| Trait Information | |
| Identifier | MONDO_0005575 |
| Description | A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma. [NCIT: C4978] | Trait categories |
Cancer
Digestive system disorder
|
| Synonyms |
39 synonyms
|
| Mapped terms |
8 mapped terms
|
| Child trait(s) | 3 child traits |
| Polygenic Score ID & Name | PGS Publication ID (PGP) | Reported Trait | Mapped Trait(s) (Ontology) | Number of Variants |
Ancestry distribution GWAS Dev Eval |
Scoring File (FTP Link) |
|---|---|---|---|---|---|---|
| PGS000055 (PRS_CRC) |
PGP000040 | Schmit SL et al. J Natl Cancer Inst (2019) |
Colorectal cancer | colorectal cancer | 76 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000055/ScoringFiles/PGS000055.txt.gz |
| PGS000074 (CC_Colorectal) |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Colorectal cancer | colorectal cancer | 103 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000074/ScoringFiles/PGS000074.txt.gz |
| PGS000146 (CRC_GRS_27) |
PGP000069 | Hsu L et al. Gastroenterology (2015) |
Colorectal cancer | colorectal cancer | 27 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000146/ScoringFiles/PGS000146.txt.gz |
| PGS000147 (CRC21) |
PGP000070 | Ibáñez-Sanz G et al. Sci Rep (2017) |
Colorectal cancer | colorectal cancer | 21 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000147/ScoringFiles/PGS000147.txt.gz |
| PGS000148 (CRC63) |
PGP000071 | Jeon J et al. Gastroenterology (2018) |
Colorectal cancer | colorectal cancer | 63 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000148/ScoringFiles/PGS000148.txt.gz | |
| PGS000149 (CRC41) |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Colorectal cancer | colorectal cancer | 41 | - - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000149/ScoringFiles/PGS000149.txt.gz |
| PGS000150 (GRS48) |
PGP000073 | Weigl K et al. Gastroenterology (2018) |
Colorectal cancer | colorectal cancer | 48 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000150/ScoringFiles/PGS000150.txt.gz |
| PGS000151 (SC_GRS) |
PGP000074 | Xin J et al. Gene (2018) |
Colorectal cancer | colorectal cancer | 14 | - - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000151/ScoringFiles/PGS000151.txt.gz |
| PGS000154 (cGRS_Colorectal) |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Colorectal cancer | colorectal cancer | 30 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000154/ScoringFiles/PGS000154.txt.gz |
| PGS000367 (PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 74 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000367/ScoringFiles/PGS000367.txt.gz | |
| PGS000368 (PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 74 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000368/ScoringFiles/PGS000368.txt.gz | |
| PGS000369 (PRSWEB_PHECODE153_CRC-Huyghe_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 81 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000369/ScoringFiles/PGS000369.txt.gz | |
| PGS000370 (PRSWEB_PHECODE153_CRC-Huyghe_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 87 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000370/ScoringFiles/PGS000370.txt.gz | |
| PGS000371 (PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 18 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000371/ScoringFiles/PGS000371.txt.gz | |
| PGS000372 (PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_PT_UKB_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 27 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000372/ScoringFiles/PGS000372.txt.gz | |
| PGS000373 (PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 1,119,238 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000373/ScoringFiles/PGS000373.txt.gz | |
| PGS000374 (PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 41 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000374/ScoringFiles/PGS000374.txt.gz | |
| PGS000375 (PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 370 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000375/ScoringFiles/PGS000375.txt.gz | |
| PGS000376 (PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colon cancer | colon carcinoma | 1,111,490 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000376/ScoringFiles/PGS000376.txt.gz | |
| PGS000377 (PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colon cancer | colon carcinoma | 5,740,814 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000377/ScoringFiles/PGS000377.txt.gz | |
| PGS000378 (PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colon cancer | colon carcinoma | 1,111,399 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000378/ScoringFiles/PGS000378.txt.gz | |
| PGS000379 (PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colon cancer | colon carcinoma | 5,715,093 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000379/ScoringFiles/PGS000379.txt.gz | |
| PGS000380 (PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colon cancer | colon carcinoma | 1,119,238 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000380/ScoringFiles/PGS000380.txt.gz | |
| PGS000381 (PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colon cancer | colon carcinoma | 12 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000381/ScoringFiles/PGS000381.txt.gz | |
| PGS000382 (PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Colon cancer | colon carcinoma | 150 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000382/ScoringFiles/PGS000382.txt.gz | |
| PGS000383 (PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Malignant neoplasm of rectum, rectosigmoid junction, and anus | rectum cancer, rectosigmoid junction neoplasm |
1,078,799 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000383/ScoringFiles/PGS000383.txt.gz | |
| PGS000384 (PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608) |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Malignant neoplasm of rectum, rectosigmoid junction, and anus | rectum cancer, rectosigmoid junction neoplasm |
1,104,018 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000384/ScoringFiles/PGS000384.txt.gz | |
| PGS000720 (PRS_Colorectal) |
PGP000135 | Jia G et al. JNCI Cancer Spectr (2020) |
Colorectal cancer | colorectal cancer | 95 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000720/ScoringFiles/PGS000720.txt.gz |
| PGS000734 (PRS95_CRC) |
PGP000142 | Archambault AN et al. Gastroenterology (2019) |
Colorectal cancer | colorectal cancer | 95 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000734/ScoringFiles/PGS000734.txt.gz | |
| PGS000765 (PRS_CRC95) |
PGP000170 | Huyghe JR et al. Nat Genet (2018) |
Colorectal cancer | colorectal cancer | 95 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000765/ScoringFiles/PGS000765.txt.gz |
| PGS000785 (CC_Colorectal_IV) |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Colorectal cancer | colorectal cancer | 103 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000785/ScoringFiles/PGS000785.txt.gz |
| PGS000801 (GRS40_CRC) |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Colorectal cancer | colorectal cancer | 40 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000801/ScoringFiles/PGS000801.txt.gz |
| PGS000802 (CRC_19) |
PGP000191 | He CY et al. Genomics (2021) |
Colorectal cancer | colorectal cancer | 19 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000802/ScoringFiles/PGS000802.txt.gz | |
| PGS001776 (PRS45_CC) |
PGP000256 | Gafni A et al. PLoS One (2021) |
Colorectal cancer | colorectal cancer | 45 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001776/ScoringFiles/PGS001776.txt.gz |
| PGS001802 (portability-PLR_153) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Colorectal cancer | colorectal cancer | 2,821 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001802/ScoringFiles/PGS001802.txt.gz |
| PGS002013 (portability-ldpred2_153) |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Colorectal cancer | colorectal cancer | 648,559 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002013/ScoringFiles/PGS002013.txt.gz |
| PGS002252 (PRS_CRC) |
PGP000279 | Archambault AN et al. J Natl Cancer Inst (2022) |
Colorectal cancer | colorectal cancer | 141 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002252/ScoringFiles/PGS002252.txt.gz |
| PGS002265 (PRS140_CRC) |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 140 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002265/ScoringFiles/PGS002265.txt.gz |
| PGS002742 (PRS115_EAS) |
PGP000354 | Ping J et al. Int J Cancer (2022) |
Colorectal cancer | colorectal cancer | 115 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002742/ScoringFiles/PGS002742.txt.gz | |
| PGS002743 (PRS115_EUR) |
PGP000354 | Ping J et al. Int J Cancer (2022) |
Colorectal cancer | colorectal cancer | 115 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002743/ScoringFiles/PGS002743.txt.gz | |
| PGS002744 (PRS115_EUR_EAS) |
PGP000354 | Ping J et al. Int J Cancer (2022) |
Colorectal cancer | colorectal cancer | 115 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002744/ScoringFiles/PGS002744.txt.gz | |
| PGS002758 (Colorectal_cancer_prscs) |
PGP000364 | Mars N et al. Am J Hum Genet (2022) |
Colorectal cancer | colorectal cancer | 1,087,843 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002758/ScoringFiles/PGS002758.txt.gz |
| PGS003386 (best_COADREAD) |
PGP000413 | Namba S et al. Cancer Res (2022) |
Colorectal cancer | colorectal carcinoma | 61 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003386/ScoringFiles/PGS003386.txt.gz |
| PGS003395 (PRScsx_CRC) |
PGP000414 | Xin J et al. Genome Med (2023) |
Colorectal cancer | colorectal cancer | 1,145,689 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003395/ScoringFiles/PGS003395.txt.gz |
| PGS003431 (LDPred2-inf) |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Colorectal cancer | colorectal cancer | 1,104,409 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003431/ScoringFiles/PGS003431.txt.gz | |
| PGS003432 (LDPred2-grid) |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Colorectal cancer | colorectal cancer | 1,104,409 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003432/ScoringFiles/PGS003432.txt.gz | |
| PGS003433 (LDPred2-grid-sp) |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Colorectal cancer | colorectal cancer | 616,956 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003433/ScoringFiles/PGS003433.txt.gz | |
| PGS003434 (SCT) |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Colorectal cancer | colorectal cancer | 194,756 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003434/ScoringFiles/PGS003434.txt.gz | |
| PGS003435 (CT) |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Colorectal cancer | colorectal cancer | 13,446 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003435/ScoringFiles/PGS003435.txt.gz | |
| PGS003436 (GWAS-sig) |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Colorectal cancer | colorectal cancer | 50 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003436/ScoringFiles/PGS003436.txt.gz | |
| PGS003439 (PRSCC_140) |
PGP000441 | Su YR et al. Cancer Epidemiol Biomarkers Prev (2023) |
Colorectal cancer | colorectal cancer | 140 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003439/ScoringFiles/PGS003439.txt.gz | |
| PGS003739 (PRS81_CoC) |
PGP000470 | Xin J et al. EBioMedicine (2023) |
Colorectal cancer | colorectal carcinoma | 81 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003739/ScoringFiles/PGS003739.txt.gz | |
| PGS003760 (PRS49_EOCRC) |
PGP000480 | Wang H et al. Genome Med (2023) |
Early onset colorectal cancer | colorectal cancer | 49 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003760/ScoringFiles/PGS003760.txt.gz |
| PGS003850 (CRC_PRS_200loci) |
PGP000491 | Fernandez-Rozadilla C et al. Nat Genet (2022) |
Colorectal cancer | colorectal cancer | 205 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003850/ScoringFiles/PGS003850.txt.gz |
| PGS003851 (CRC_PRS_EUR) |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Colorectal cancer | colorectal cancer | 1,180,765 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003851/ScoringFiles/PGS003851.txt.gz |
| PGS003852 (CRC_PRS_EUR_EAS) |
PGP000492 | Thomas M T et al. medRxiv (2023) |Pre |
Colorectal cancer | colorectal cancer | 1,016,596 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003852/ScoringFiles/PGS003852.txt.gz |
| PGS003979 (CRC_PRSCS) |
PGP000515 | Tamlander M et al. Br J Cancer (2023) |
Colorectal cancer | colorectal carcinoma | 1,088,133 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS003979/ScoringFiles/PGS003979.txt.gz |
| PGS004240 (PRS89_CRC) |
PGP000541 | Fan L et al. Int J Cancer (2023) |
Colorectal cancer | colorectal carcinoma | 89 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004240/ScoringFiles/PGS004240.txt.gz |
| PGS004243 (PRS67_colorectum) |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Colorectal cancer | colorectal carcinoma | 67 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004243/ScoringFiles/PGS004243.txt.gz |
| PGS004445 (disease.D12.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
D12 (Benign neoplasm of colon, rectum, anus and anal canal) | colorectal carcinoma | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004445/ScoringFiles/PGS004445.txt.gz |
| PGS004515 (meta.D12.score) |
PGP000561 | Jung H et al. Commun Biol (2024) |
D12 (Benign neoplasm of colon, rectum, anus and anal canal) | colorectal carcinoma | 1,059,939 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004515/ScoringFiles/PGS004515.txt.gz |
| PGS004580 (CRC_PRSCS) |
PGP000562 | Youssef O et al. Lab Invest (2024) |
Colorectal cancer | colorectal carcinoma | 1,099,906 | - |
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004580/ScoringFiles/PGS004580.txt.gz |
| PGS004689 (colorectal_cancer) |
PGP000596 | Hu J et al. JNCI Cancer Spectr (2024) |
Colorectal cancer | colorectal carcinoma | 1,077,789 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS004689/ScoringFiles/PGS004689.txt.gz |
|
PGS Performance Metric ID (PPM) |
Evaluated Score |
PGS Sample Set ID (PSS) |
Performance Source | Trait |
PGS Effect Sizes (per SD change) |
Classification Metrics | Other Metrics | Covariates Included in the Model |
PGS Performance: Other Relevant Information |
|---|---|---|---|---|---|---|---|---|---|
| PPM000139 | PGS000055 (PRS_CRC) |
PSS000087| European Ancestry| 61,335 individuals |
PGP000040 | Schmit SL et al. J Natl Cancer Inst (2019) |
Reported Trait: Colorectal cancer | — | — | Familial relative risk explained (%): 11.9 [9.2, 15.5] PRS percentile threshold for Odds Ratio > 2: 95.7 |
age, sex, PCs, PC*study | — |
| PPM000140 | PGS000055 (PRS_CRC) |
PSS000086| East Asian Ancestry| 21,630 individuals |
PGP000040 | Schmit SL et al. J Natl Cancer Inst (2019) |
Reported Trait: Colorectal cancer | — | — | PRS percentile threshold for Odds Ratio > 2: 99.1 | age, sex, PCs, PC*study | — |
| PPM018698 | PGS000055 (PRS_CRC) |
PSS011070| East Asian Ancestry| 332 individuals |
PGP000494 | Ho PJ et al. Elife (2023) |Ext. |
Reported Trait: Colorectal cancer | — | AUROC: 0.65 [0.62, 0.69] | Hazard ratio (HR, high vs low tertile): 2.27 [1.6, 3.21] | age at recruitment | — |
| PPM000194 | PGS000074 (CC_Colorectal) |
PSS000113| European Ancestry| 416,249 individuals |
PGP000050 | Graff RE et al. Nat Commun (2021) |
Reported Trait: Colorectal cancer | OR: 1.37 [1.33, 1.4] | — | — | Genotyping reagent kit (GERA cohort only), genotyping array (UK Biobank only), age, sex, 10 PCs. | Results from meta-analysis of GERA and UKB |
| PPM002040 | PGS000074 (CC_Colorectal) |
PSS001013| European Ancestry| 393,723 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |Ext. |
Reported Trait: Incident colorectal cancer | HR: 1.32 [1.27, 1.37] | AUROC: 0.704 C-index: 0.704 (0.006) |
— | Age at assessment, sex, family history of bowel cancer, genotyping array, PCs(1-15), wasit to hip ratio, cigarette pack years, frequency of processed meat intake (<1 per week vs. ≥1 per week), moderate and/or strenuous physical activity (days per week), alcohol intake | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
| PPM017164 | PGS000074 (CC_Colorectal) |
PSS010144| European Ancestry| 2,150 individuals |
PGP000443 | Byrne S et al. Int J Epidemiol (2023) |Ext. |
Reported Trait: Colorectal cancer | HR: 1.36 [1.31, 1.42] | — | — | age at baseline, sex (where relevant), assessment centre, 40 principal components of ancestries (PCs), Townsend Index, education, birth location, income, lifestyle index, additional cancer-specific covariates | — |
| PPM000439 | PGS000146 (CRC_GRS_27) |
PSS000252| European Ancestry| 3,269 individuals |
PGP000069 | Hsu L et al. Gastroenterology (2015) |
Reported Trait: Distal colon cancer | OR: 1.08 [1.06, 1.11] | — | — | Study, age, endoscopy, family history | — |
| PPM000438 | PGS000146 (CRC_GRS_27) |
PSS000254| European Ancestry| 3,292 individuals |
PGP000069 | Hsu L et al. Gastroenterology (2015) |
Reported Trait: Proximal colon cancer | OR: 1.07 [1.04, 1.1] | — | — | Study, age, endoscopy, family history | — |
| PPM000445 | PGS000146 (CRC_GRS_27) |
PSS000257| European Ancestry| 733 individuals |
PGP000069 | Hsu L et al. Gastroenterology (2015) |
Reported Trait: Colorectal cancer | — | AUROC: 0.56 [0.51, 0.61] | — | Age, endoscopy, family history | — |
| PPM000444 | PGS000146 (CRC_GRS_27) |
PSS000258| European Ancestry| 1,002 individuals |
PGP000069 | Hsu L et al. Gastroenterology (2015) |
Reported Trait: Colorectal cancer | — | AUROC: 0.59 [0.54, 0.64] | — | Age, endoscopy, family history | — |
| PPM000443 | PGS000146 (CRC_GRS_27) |
PSS000255| European Ancestry| 4,573 individuals |
PGP000069 | Hsu L et al. Gastroenterology (2015) |
Reported Trait: Rectal cancer | OR: 1.12 [1.08, 1.15] | — | — | Study, age, endoscopy, family history | — |
| PPM000442 | PGS000146 (CRC_GRS_27) |
PSS000251| European Ancestry| 4,886 individuals |
PGP000069 | Hsu L et al. Gastroenterology (2015) |
Reported Trait: Distal colon cancer | OR: 1.08 [1.05, 1.1] | — | — | Study, age, endoscopy, family history | — |
| PPM000441 | PGS000146 (CRC_GRS_27) |
PSS000253| European Ancestry| 5,530 individuals |
PGP000069 | Hsu L et al. Gastroenterology (2015) |
Reported Trait: Proximal colon cancer | OR: 1.06 [1.03, 1.08] | — | — | Study, age, endoscopy, family history | — |
| PPM000440 | PGS000146 (CRC_GRS_27) |
PSS000256| European Ancestry| 3,167 individuals |
PGP000069 | Hsu L et al. Gastroenterology (2015) |
Reported Trait: Rectal cancer | OR: 1.06 [1.03, 1.09] | — | — | Study, age, endoscopy, family history | — |
| PPM000448 | PGS000147 (CRC21) |
PSS000259| European Ancestry| 4,080 individuals |
PGP000070 | Ibáñez-Sanz G et al. Sci Rep (2017) |
Reported Trait: Colorectal cancer | — | AUROC: 0.63 [0.6, 0.66] | Odds Ratio (OR; per allele): 1.07 [1.04, 1.1] | environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history | — |
| PPM000447 | PGS000147 (CRC21) |
PSS000259| European Ancestry| 4,080 individuals |
PGP000070 | Ibáñez-Sanz G et al. Sci Rep (2017) |
Reported Trait: Rectal cancer | — | — | Odds Ratio (OR; per allele): 1.1 [1.06, 1.15] | environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history | — |
| PPM000446 | PGS000147 (CRC21) |
PSS000259| European Ancestry| 4,080 individuals |
PGP000070 | Ibáñez-Sanz G et al. Sci Rep (2017) |
Reported Trait: Colon cancer | — | — | Odds Ratio (OR; per allele): 1.06 [1.03, 1.09] | environmental risk factors ( alcohol consumption, obesity, physical activity, red meat and vegetable consumption, nonsteroidal anti-inflammatory drug use), family history | — |
| PPM000449 | PGS000147 (CRC21) |
PSS000259| European Ancestry| 4,080 individuals |
PGP000070 | Ibáñez-Sanz G et al. Sci Rep (2017) |
Reported Trait: Colorectal cancer | — | AUROC: 0.56 [0.54, 0.58] | — | — | — |
| PPM000452 | PGS000148 (CRC63) |
PSS000260| European Ancestry| 5,500 individuals |
PGP000071 | Jeon J et al. Gastroenterology (2018) |
Reported Trait: Colorectal cancer | — | AUROC: 0.59 [0.58, 0.6] | — | age, family history, study, endoscopy history | Risk prediction using Model III (Family History & G-score) |
| PPM000451 | PGS000148 (CRC63) |
PSS000261| European Ancestry| 4,666 individuals |
PGP000071 | Jeon J et al. Gastroenterology (2018) |
Reported Trait: Colorectal cancer | — | AUROC: 0.63 [0.62, 0.64] | — | age, family history, study, endoscopy history, E-score (height, body mass index, education, history of type 2 diabetes mellitus, smoking status, alcohol consumption, regular aspirin use, regular NSAIDs use, smoking pack-years, dietary factors, total-energy, physical activity) | Risk prediction using Model IV (Family history & E-score & G-score) |
| PPM000450 | PGS000148 (CRC63) |
PSS000261| European Ancestry| 4,666 individuals |
PGP000071 | Jeon J et al. Gastroenterology (2018) |
Reported Trait: Colorectal cancer | — | AUROC: 0.59 [0.58, 0.6] | — | age, family history, study, endoscopy history | Risk prediction using Model III (Family History & G-score) |
| PPM000453 | PGS000148 (CRC63) |
PSS000260| European Ancestry| 5,500 individuals |
PGP000071 | Jeon J et al. Gastroenterology (2018) |
Reported Trait: Colorectal cancer | — | AUROC: 0.62 [0.61, 0.63] | — | age, family history, study, endoscopy history, E-score (height, body mass index, education, history of type 2 diabetes mellitus, smoking status, alcohol consumption, regular aspirin use, regular NSAIDs use, regular use of post-menopausal hormones, smoking pack-years, dietary factors, total-energy, physical activity) | Risk prediction using Model IV (Family history & E-score & G-score) |
| PPM000464 | PGS000149 (CRC41) |
PSS000263| European Ancestry| 286,877 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer in individuals with a family history | — | C-index: 0.68 [0.67, 0.7] | — | Wells et al. model (age, diabetes, multi-vitamin usage, family history of colon cancer, years of education, body mass index, alcohol intake, physical activity, non-steroidal anti-inflammatory drug usage, red meat intake, smoking and oestrogen use [women only]) | Fully recalibrated model |
| PPM000463 | PGS000149 (CRC41) |
PSS000263| European Ancestry| 286,877 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer | — | C-index: 0.68 [0.67, 0.7] | — | Wells et al. model (age, diabetes, multi-vitamin usage, family history of colon cancer, years of education, body mass index, alcohol intake, physical activity, non-steroidal anti-inflammatory drug usage, red meat intake, smoking and oestrogen use [women only]) | Fully recalibrated model |
| PPM000459 | PGS000149 (CRC41) |
PSS000262| European Ancestry| 361,543 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer in individuals without a family history | — | C-index: 0.66 [0.62, 0.69] | — | Taylor et al. model (age-specific rates of CRC with estimated relative risks for different degrees of CRC family history) | Fully recalibrated model |
| PPM000458 | PGS000149 (CRC41) |
PSS000262| European Ancestry| 361,543 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer in individuals with a family history | — | C-index: 0.69 [0.67, 0.7] | — | Taylor et al. model (age-specific rates of CRC with estimated relative risks for different degrees of CRC family history) | Fully recalibrated model |
| PPM000457 | PGS000149 (CRC41) |
PSS000262| European Ancestry| 361,543 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer | — | C-index: 0.68 [0.67, 0.7] | — | Taylor et al. model (age-specific rates of CRC with estimated relative risks for different degrees of CRC family history) | Fully recalibrated model |
| PPM000465 | PGS000149 (CRC41) |
PSS000263| European Ancestry| 286,877 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer in individuals without a family history | — | C-index: 0.67 [0.63, 0.71] | — | Wells et al. model (age, diabetes, multi-vitamin usage, family history of colon cancer, years of education, body mass index, alcohol intake, physical activity, non-steroidal anti-inflammatory drug usage, red meat intake, smoking and oestrogen use [women only]) | Fully recalibrated model |
| PPM000462 | PGS000149 (CRC41) |
PSS000263| European Ancestry| 286,877 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer in individuals without a family history | — | C-index: 0.57 [0.53, 0.6] | — | — | — |
| PPM000461 | PGS000149 (CRC41) |
PSS000263| European Ancestry| 286,877 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer in individuals with a family history | — | C-index: 0.56 [0.55, 0.58] | — | — | — |
| PPM000460 | PGS000149 (CRC41) |
PSS000263| European Ancestry| 286,877 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer | — | C-index: 0.57 [0.55, 0.58] | — | — | — |
| PPM000456 | PGS000149 (CRC41) |
PSS000262| European Ancestry| 361,543 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer in individuals without a family history | — | C-index: 0.55 [0.52, 0.59] | — | — | — |
| PPM000455 | PGS000149 (CRC41) |
PSS000262| European Ancestry| 361,543 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer in individuals with a family history | — | C-index: 0.57 [0.55, 0.58] | — | — | — |
| PPM000454 | PGS000149 (CRC41) |
PSS000262| European Ancestry| 361,543 individuals |
PGP000072 | Smith T et al. Br J Cancer (2018) |
Reported Trait: Incident colorectal cancer | — | C-index: 0.56 [0.55, 0.58] | — | — | — |
| PPM000469 | PGS000150 (GRS48) |
PSS000269| European Ancestry| 749 individuals |
PGP000073 | Weigl K et al. Gastroenterology (2018) |
Reported Trait: advanced neoplasm (colorectal cancer) | — | C-index: 0.615 | Odds Ratio (OR; highest vs. lowest tertile of GRS): 2.74 [1.84, 4.09] | sex, age, previous colonoscopy, physical activity | — |
| PPM000468 | PGS000150 (GRS48) |
PSS000269| European Ancestry| 749 individuals |
PGP000073 | Weigl K et al. Gastroenterology (2018) |
Reported Trait: advanced neoplasm (colorectal cancer) | — | C-index: 0.599 | Odds Ratio (OR; highest vs. lowest tertile of GRS): 2.64 [1.77, 3.92] | sex, age | — |
| PPM000467 | PGS000150 (GRS48) |
PSS000268| European Ancestry| 1,043 individuals |
PGP000073 | Weigl K et al. Gastroenterology (2018) |
Reported Trait: non-advanced adenoma (colorectal) | — | C-index: 0.596 | Odds Ratio (OR; highest vs. lowest tertile of GRS): 1.05 [0.7, 1.55] | sex, age, previous colonoscopy, physical activity | — |
| PPM000466 | PGS000150 (GRS48) |
PSS000268| European Ancestry| 1,043 individuals |
PGP000073 | Weigl K et al. Gastroenterology (2018) |
Reported Trait: non-advanced adenoma (colorectal) | — | C-index: 0.584 | Odds Ratio (OR; highest vs. lowest tertile of GRS): 1.04 [0.7, 1.55] | sex, age | — |
| PPM000471 | PGS000151 (SC_GRS) |
PSS000271| East Asian Ancestry| 3,523 individuals |
PGP000074 | Xin J et al. Gene (2018) |
Reported Trait: Colorectal cancer | — | AUROC: 0.607 [0.581, 0.633] | — | smoking status | — |
| PPM000470 | PGS000151 (SC_GRS) |
PSS000271| East Asian Ancestry| 3,523 individuals |
PGP000074 | Xin J et al. Gene (2018) |
Reported Trait: Colorectal cancer | — | AUROC: 0.6 [0.579, 0.622] | — | — | — |
| PPM000474 | PGS000154 (cGRS_Colorectal) |
PSS000274| European Ancestry| 13,814 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Colorectal cancer | — | — | Mean realative risk: 1.08 [1.04, 1.12] Wilcoxon test (case vs. control) p-value: 8.29e-06 |
— | — |
| PPM000485 | PGS000154 (cGRS_Colorectal) |
PSS000274| European Ancestry| 13,814 individuals |
PGP000075 | Shi Z et al. Cancer Med (2019) |
Reported Trait: Colorectal cancer | — | — | Odds Ratio (OR; high vs. average risk groups): 1.18 [0.87, 1.61] | — | — |
| PPM001052 | PGS000367 (PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_MGI_20200608) |
PSS000540| European Ancestry| 6,633 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | OR: 1.198 [1.102, 1.302] β: 0.181 (0.0425) |
AUROC: 0.55 [0.522, 0.574] | Nagelkerke's Pseudo-R²: 0.00586 Brier score: 0.0828 Odds Ratio (OR, top 1% vs. Rest): 2.2 [1.21, 4.0] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_MGI_20200608 |
| PPM001053 | PGS000368 (PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_UKB_20200608) |
PSS000564| European Ancestry| 24,996 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | OR: 1.516 [1.451, 1.585] β: 0.416 (0.0225) |
AUROC: 0.612 [0.6, 0.625] | Nagelkerke's Pseudo-R²: 0.0304 Brier score: 0.0813 Odds Ratio (OR, top 1% vs. Rest): 3.85 [2.99, 4.96] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_CRC-Huyghe_P_5e-08_UKB_20200608 |
| PPM001054 | PGS000369 (PRSWEB_PHECODE153_CRC-Huyghe_PT_MGI_20200608) |
PSS000540| European Ancestry| 6,633 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | OR: 1.214 [1.117, 1.32] β: 0.194 (0.0426) |
AUROC: 0.553 [0.525, 0.577] | Nagelkerke's Pseudo-R²: 0.00671 Brier score: 0.0828 Odds Ratio (OR, top 1% vs. Rest): 3.04 [1.79, 5.17] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_CRC-Huyghe_PT_MGI_20200608 |
| PPM012887 | PGS000370 (PRSWEB_PHECODE153_CRC-Huyghe_PT_UKB_20200608) |
PSS009593| Ancestry Not Reported| 9,666 individuals |
PGP000292 | Saad M et al. Lancet Oncol (2022) |Ext. |
Reported Trait: Colorectal cancer | OR: 1.543 [1.411, 1.686] | AUROC: 0.621 [0.597, 0.645] | — | — | — |
| PPM001055 | PGS000370 (PRSWEB_PHECODE153_CRC-Huyghe_PT_UKB_20200608) |
PSS000564| European Ancestry| 24,996 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | OR: 1.547 [1.48, 1.617] β: 0.436 (0.0226) |
AUROC: 0.617 [0.605, 0.63] | Nagelkerke's Pseudo-R²: 0.0332 Brier score: 0.0812 Odds Ratio (OR, top 1% vs. Rest): 4.0 [3.11, 5.13] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_CRC-Huyghe_PT_UKB_20200608 |
| PPM001056 | PGS000371 (PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608) |
PSS000564| European Ancestry| 24,996 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | OR: 1.254 [1.202, 1.309] β: 0.226 (0.0217) |
AUROC: 0.561 [0.548, 0.573] | Nagelkerke's Pseudo-R²: 0.00946 Brier score: 0.0822 Odds Ratio (OR, top 1% vs. Rest): 1.79 [1.28, 2.51] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_P_5e-08_UKB_20200608 |
| PPM001057 | PGS000372 (PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_PT_UKB_20200608) |
PSS000564| European Ancestry| 24,996 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | OR: 1.279 [1.225, 1.335] β: 0.246 (0.0218) |
AUROC: 0.565 [0.551, 0.577] | Nagelkerke's Pseudo-R²: 0.0111 Brier score: 0.0822 Odds Ratio (OR, top 1% vs. Rest): 2.1 [1.53, 2.89] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_GWAS-Catalog-r2019-05-03-X153_PT_UKB_20200608 |
| PPM001058 | PGS000373 (PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PRS-CS_MGI_20200608) |
PSS000540| European Ancestry| 6,633 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | OR: 1.189 [1.093, 1.293] β: 0.173 (0.0428) |
AUROC: 0.548 [0.523, 0.572] | Nagelkerke's Pseudo-R²: 0.00529 Brier score: 0.0829 Odds Ratio (OR, top 1% vs. Rest): 1.71 [0.882, 3.33] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PRS-CS_MGI_20200608 |
| PPM001059 | PGS000374 (PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PT_MGI_20200608) |
PSS000540| European Ancestry| 6,633 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | OR: 1.091 [1.004, 1.185] β: 0.0872 (0.0423) |
AUROC: 0.517 [0.493, 0.541] | Nagelkerke's Pseudo-R²: 0.00134 Brier score: 0.083 Odds Ratio (OR, top 1% vs. Rest): 1.88 [0.99, 3.55] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_PT_MGI_20200608 |
| PPM001060 | PGS000375 (PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_LASSOSUM_MGI_20200608) |
PSS000540| European Ancestry| 6,633 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | OR: 1.113 [1.024, 1.21] β: 0.107 (0.0425) |
AUROC: 0.53 [0.503, 0.555] | Nagelkerke's Pseudo-R²: 0.00205 Brier score: 0.083 Odds Ratio (OR, top 1% vs. Rest): 2.76 [1.59, 4.81] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153_UKBB-SAIGE-HRC-X153_LASSOSUM_MGI_20200608 |
| PPM001061 | PGS000376 (PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608) |
PSS000538| European Ancestry| 5,031 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colon cancer | OR: 1.177 [1.069, 1.297] β: 0.163 (0.0491) |
AUROC: 0.547 [0.518, 0.576] | Nagelkerke's Pseudo-R²: 0.0046 Brier score: 0.0832 Odds Ratio (OR, top 1% vs. Rest): 1.65 [0.753, 3.61] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_PRS-CS_MGI_20200608 |
| PPM001062 | PGS000377 (PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608) |
PSS000538| European Ancestry| 5,031 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colon cancer | OR: 1.174 [1.066, 1.292] β: 0.16 (0.049) |
AUROC: 0.545 [0.518, 0.574] | Nagelkerke's Pseudo-R²: 0.00441 Brier score: 0.0831 Odds Ratio (OR, top 1% vs. Rest): 1.4 [0.607, 3.22] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C18_LASSOSUM_MGI_20200608 |
| PPM001063 | PGS000378 (PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608) |
PSS000538| European Ancestry| 5,031 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colon cancer | OR: 1.141 [1.038, 1.254] β: 0.132 (0.0484) |
AUROC: 0.536 [0.509, 0.565] | Nagelkerke's Pseudo-R²: 0.00301 Brier score: 0.0832 Odds Ratio (OR, top 1% vs. Rest): 1.82 [0.867, 3.84] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_PRS-CS_MGI_20200608 |
| PPM001064 | PGS000379 (PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608) |
PSS000538| European Ancestry| 5,031 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colon cancer | OR: 1.143 [1.038, 1.258] β: 0.134 (0.049) |
AUROC: 0.536 [0.51, 0.567] | Nagelkerke's Pseudo-R²: 0.00302 Brier score: 0.0832 Odds Ratio (OR, top 1% vs. Rest): 0.757 [0.252, 2.28] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_C3-COLON_LASSOSUM_MGI_20200608 |
| PPM001065 | PGS000380 (PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608) |
PSS000538| European Ancestry| 5,031 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colon cancer | OR: 1.324 [1.203, 1.457] β: 0.281 (0.0489) |
AUROC: 0.569 [0.539, 0.599] | Nagelkerke's Pseudo-R²: 0.0138 Brier score: 0.0827 Odds Ratio (OR, top 1% vs. Rest): 3.85 [2.19, 6.77] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PRS-CS_MGI_20200608 |
| PPM001066 | PGS000381 (PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608) |
PSS000538| European Ancestry| 5,031 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colon cancer | OR: 1.212 [1.105, 1.33] β: 0.193 (0.0472) |
AUROC: 0.55 [0.522, 0.577] | Nagelkerke's Pseudo-R²: 0.00703 Brier score: 0.0831 Odds Ratio (OR, top 1% vs. Rest): 1.6 [0.733, 3.51] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_PT_MGI_20200608 |
| PPM001067 | PGS000382 (PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608) |
PSS000538| European Ancestry| 5,031 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Colon cancer | OR: 1.247 [1.134, 1.371] β: 0.221 (0.0483) |
AUROC: 0.567 [0.54, 0.594] | Nagelkerke's Pseudo-R²: 0.00899 Brier score: 0.083 Odds Ratio (OR, top 1% vs. Rest): 1.17 [0.477, 2.87] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.2_UKBB-SAIGE-HRC-X153.2_LASSOSUM_MGI_20200608 |
| PPM001068 | PGS000383 (PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608) |
PSS000539| European Ancestry| 3,557 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Malignant neoplasm of rectum, rectosigmoid junction, and anus | OR: 1.126 [1.005, 1.262] β: 0.119 (0.0579) |
AUROC: 0.533 [0.5, 0.567] | Nagelkerke's Pseudo-R²: 0.00257 Brier score: 0.0829 Odds Ratio (OR, top 1% vs. Rest): 1.34 [0.491, 3.65] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.3_C19_PRS-CS_MGI_20200608 |
| PPM001069 | PGS000384 (PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608) |
PSS000539| European Ancestry| 3,557 individuals |
PGP000118 | Fritsche LG et al. Am J Hum Genet (2020) |
Reported Trait: Malignant neoplasm of rectum, rectosigmoid junction, and anus | OR: 1.122 [1.001, 1.257] β: 0.115 (0.058) |
AUROC: 0.531 [0.495, 0.563] | Nagelkerke's Pseudo-R²: 0.00251 Brier score: 0.0829 Odds Ratio (OR, top 1% vs. Rest): 1.02 [0.334, 3.14] |
age, sex, batch PCs 1-4 | Cancer PRSweb PheWAS Results: PRSWEB_PHECODE153.3_C3-RECTUM_PRS-CS_MGI_20200608 |
| PPM001648 | PGS000720 (PRS_Colorectal) |
PSS000855| European Ancestry| 400,812 individuals |
PGP000135 | Jia G et al. JNCI Cancer Spectr (2020) |
Reported Trait: Incident colorectal cancer | — | AUROC: 0.609 [0.598, 0.62] | — | Genotyping array | — |
| PPM001649 | PGS000720 (PRS_Colorectal) |
PSS000855| European Ancestry| 400,812 individuals |
PGP000135 | Jia G et al. JNCI Cancer Spectr (2020) |
Reported Trait: Incident colorectal cancer | — | AUROC: 0.613 [0.602, 0.624] | — | family history of cancer (in first-degree relatives), genotyping array | — |
| PPM001742 | PGS000734 (PRS95_CRC) |
PSS000896| European Ancestry| 24,472 individuals |
PGP000142 | Archambault AN et al. Gastroenterology (2019) |
Reported Trait: Early-onset colorectal cancer in individuals with no family history of colorectal cancer | HR: 1.76 [1.11, 2.78] | — | — | Sex, PCs | — |
| PPM001743 | PGS000734 (PRS95_CRC) |
PSS000895| European Ancestry| 61,129 individuals |
PGP000142 | Archambault AN et al. Gastroenterology (2019) |
Reported Trait: Late-onset colorectal cancer in individuals with no family history of colorectal cancer | HR: 1.42 [1.33, 1.52] | — | — | Sex, PCs | — |
| PPM001744 | PGS000734 (PRS95_CRC) |
PSS000897| European Ancestry| 6,668 individuals |
PGP000142 | Archambault AN et al. Gastroenterology (2019) |
Reported Trait: Late-onset colorectal cancer in individuals with a family history of colorectal cancer | HR: 1.34 [1.17, 1.54] | — | — | Sex, PCs | — |
| PPM001740 | PGS000734 (PRS95_CRC) |
PSS000894| European Ancestry| 26,938 individuals |
PGP000142 | Archambault AN et al. Gastroenterology (2019) |
Reported Trait: Early-onset colorectal cancer | HR: 1.73 [1.17, 2.56] | — | — | Sex, PCs | — |
| PPM001741 | PGS000734 (PRS95_CRC) |
PSS000893| European Ancestry| 67,792 individuals |
PGP000142 | Archambault AN et al. Gastroenterology (2019) |
Reported Trait: Late-onset colorectal cancer | HR: 1.43 [1.34, 1.51] | — | — | Sex, PCs | — |
| PPM018699 | PGS000734 (PRS95_CRC) |
PSS011071| East Asian Ancestry| 409 individuals |
PGP000494 | Ho PJ et al. Elife (2023) |Ext. |
Reported Trait: Colorectal cancer | — | AUROC: 0.66 [0.63, 0.69] | Hazard ratio (HR, high vs low tertile): 3.25 [2.24, 4.73] | age at recruitment | — |
| PPM001961 | PGS000765 (PRS_CRC95) |
PSS000981| Multi-ancestry (including European)| 48,807 individuals |
PGP000171 | Fahed AC et al. Nat Commun (2020) |Ext. |
Reported Trait: Prevalent colorectal cancer | OR: 1.65 [1.48, 1.85] | — | — | Age, sex, PCs (1-4) | — |
| PPM015518 | PGS000765 (PRS_CRC95) |
PSS009971| Multi-ancestry (including European)| 36,422 individuals |
PGP000381 | Hao L et al. Nat Med (2022) |Ext. |
Reported Trait: Colorectal cancer | OR: 2.37 [1.74, 3.24] | — | — | 4 genetic PCs | — |
| PPM018551 | PGS000765 (PRS_CRC95) |
PSS011020| Multi-ancestry (including European)| 163,516 individuals |
PGP000482 | Hassanin E et al. BMC Med Genomics (2023) |Ext. |
Reported Trait: Colorectal cancer with pathogenic variant carriers | — | AUROC: 0.693 [0.66, 0.71] C-index: 0.646 |
Odds ratio (OR, high vs low tertile): 17.5 [9.0, 32.4] | — | — |
| PPM018552 | PGS000765 (PRS_CRC95) |
PSS011020| Multi-ancestry (including European)| 163,516 individuals |
PGP000482 | Hassanin E et al. BMC Med Genomics (2023) |Ext. |
Reported Trait: Incident colorectal cancer with pathogenic variant carriers | — | — | Odds ratio (OR, high vs low tertile): 7.0 [2.04, 23.7] | — | — |
| PPM018553 | PGS000765 (PRS_CRC95) |
PSS011020| Multi-ancestry (including European)| 163,516 individuals |
PGP000482 | Hassanin E et al. BMC Med Genomics (2023) |Ext. |
Reported Trait: Colorectal cancer with family history of cancer | — | AUROC: 0.698 [0.67, 0.72] C-index: 0.652 |
Odds ratio (OR, high vs low tertile): 3.1 [2.6, 3.8] | — | — |
| PPM018554 | PGS000765 (PRS_CRC95) |
PSS011020| Multi-ancestry (including European)| 163,516 individuals |
PGP000482 | Hassanin E et al. BMC Med Genomics (2023) |Ext. |
Reported Trait: Colorectal cancer with family history of cancer and pathogenic variant carriers | — | AUROC: 0.704 [0.68, 0.73] C-index: 0.657 |
Odds ratio (OR, high vs low tertile): 39.9 [12.69, 125.41] | — | — |
| PPM018555 | PGS000765 (PRS_CRC95) |
PSS011020| Multi-ancestry (including European)| 163,516 individuals |
PGP000482 | Hassanin E et al. BMC Med Genomics (2023) |Ext. |
Reported Trait: Colorectal cancer | — | AUROC: 0.688 [0.66, 0.71] C-index: 0.64 |
— | — | — |
| PPM020769 | PGS000765 (PRS_CRC95) |
PSS011399| European Ancestry| 1,428 individuals |
PGP000583 | Dueñas N et al. J Med Genet (2023) |Ext. |
Reported Trait: Colorectal cancer or advanced adenoma in individuals with Lynch syndrome | HR: 1.019 [1.005, 1.032] | — | — | Sex, birth cohort, other Lynch syndrome-related cancers | — |
| PPM020782 | PGS000765 (PRS_CRC95) |
PSS011409| European Ancestry| 2,059 individuals |
PGP000589 | Mur P et al. Cancers (Basel) (2021) |Ext. |
Reported Trait: Familial / early-onset colorectal cancer | OR: 1.12 [1.09, 1.14] | — | — | Age, sex | Only 92 SNPs were included. 3 SNPs had an R^2 lower than 0.3 and were excluded |
| PPM020783 | PGS000765 (PRS_CRC95) |
PSS011410| European Ancestry| 2,719 individuals |
PGP000589 | Mur P et al. Cancers (Basel) (2021) |Ext. |
Reported Trait: Sporadic colorectal cancer | OR: 1.08 [1.06, 1.09] | — | — | Age, sex | Only 92 SNPs were included. 3 SNPs had an R^2 lower than 0.3 and were excluded |
| PPM020784 | PGS000765 (PRS_CRC95) |
PSS011409| European Ancestry| 2,059 individuals |
PGP000589 | Mur P et al. Cancers (Basel) (2021) |Ext. |
Reported Trait: Familial / early-onset colorectal cancer | — | AUROC: 0.833 | R²: 0.373 | Age at cancer diagnosis, sex | Only 92 SNPs were included. 3 SNPs had an R^2 lower than 0.3 and were excluded |
| PPM020785 | PGS000765 (PRS_CRC95) |
PSS011409| European Ancestry| 2,059 individuals |
PGP000589 | Mur P et al. Cancers (Basel) (2021) |Ext. |
Reported Trait: Familial / early-onset colorectal cancer | — | AUROC: 0.905 | R²: 0.598 | Age at cancer diagnosis, sex, family history of colorectal cancer | Only 92 SNPs were included. 3 SNPs had an R^2 lower than 0.3 and were excluded. Only 405 cases and 1,094 controls were included in this analysis |
| PPM002056 | PGS000785 (CC_Colorectal_IV) |
PSS001013| European Ancestry| 393,723 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident colorectal cancer | HR: 1.48 [1.43, 1.54] | AUROC: 0.716 C-index: 0.716 (0.006) |
R²: 0.345 | Age at assessment, sex, family history of bowel cancer, genotyping array, PCs(1-15), wasit to hip ratio, cigarette pack years, frequency of processed meat intake (<1 per week vs. ≥1 per week), moderate and/or strenuous physical activity (days per week), alcohol intake | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
| PPM002071 | PGS000785 (CC_Colorectal_IV) |
PSS001013| European Ancestry| 393,723 individuals |
PGP000186 | Kachuri L et al. Nat Commun (2020) |
Reported Trait: Incident colorectal cancer | — | AUROC: 0.708 C-index: 0.708 (0.006) |
R²: 0.319 | Age, sex, genotyping array, PCs(1-15) | C-index calculated as a weighted average between 1 and 5 years and AUC at 5 years. |
| PPM002087 | PGS000801 (GRS40_CRC) |
PSS001030| European Ancestry| 27,426 individuals |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Reported Trait: Advanced conventional adenoma | OR: 1.22 [1.16, 1.28] | — | Odds Ratio (OR, top 20% vs bottom 20%): 1.91 [1.59, 2.29] | Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) | Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score. |
| PPM002092 | PGS000801 (GRS40_CRC) |
PSS001030| European Ancestry| 27,426 individuals |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Reported Trait: Multiple conventional adenomas | OR: 1.25 [1.17, 1.34] | — | — | Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) | Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score. |
| PPM002093 | PGS000801 (GRS40_CRC) |
PSS001030| European Ancestry| 27,426 individuals |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Reported Trait: Multiple serrated polyps | OR: 1.09 [1.01, 1.18] | — | — | Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) | Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score. |
| PPM002085 | PGS000801 (GRS40_CRC) |
PSS001030| European Ancestry| 27,426 individuals |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Reported Trait: Conventional adeonma | OR: 1.17 [1.12, 1.21] | — | Odds Ratio (OR, top 20% vs bottom 20%): 1.63 [1.44, 1.83] | Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) | Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score. |
| PPM002086 | PGS000801 (GRS40_CRC) |
PSS001030| European Ancestry| 27,426 individuals |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Reported Trait: Non-advanced conventional adenoma | OR: 1.12 [1.07, 1.18] | — | Odds Ratio (OR, top 20% vs bottom 20%): 1.44 [1.23, 1.68] | Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) | Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score. |
| PPM002088 | PGS000801 (GRS40_CRC) |
PSS001030| European Ancestry| 27,426 individuals |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Reported Trait: Serrated polyp | OR: 1.09 [1.03, 1.14] | — | Odds Ratio (OR, top 20% vs bottom 20%): 1.24 [1.06, 1.45] | Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) | Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score. |
| PPM002089 | PGS000801 (GRS40_CRC) |
PSS001030| European Ancestry| 27,426 individuals |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Reported Trait: Serrated polyp with high risk of malignancy | OR: 1.1 [1.01, 1.19] | — | — | Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) | Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score. |
| PPM002090 | PGS000801 (GRS40_CRC) |
PSS001030| European Ancestry| 27,426 individuals |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Reported Trait: Serrated polyp with low risk of malignancy | OR: 1.08 [1.02, 1.15] | — | Odds Ratio (OR, top 20% vs bottom 20%): 1.25 [1.03, 1.53] | Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) | Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score. |
| PPM002091 | PGS000801 (GRS40_CRC) |
PSS001030| European Ancestry| 27,426 individuals |
PGP000190 | Hang D et al. Int J Epidemiol (2020) |
Reported Trait: Synchronous conventional adenoma and serrated polyp | OR: 1.24 [1.16, 1.32] | — | Odds Ratio (OR, top 20% vs bottom 20%): 1.96 [1.54, 2.49] | Study cohort (NHS, NHSII, HPFS), time period of endoscopy (in 2-year interval), number of previous endoscopies, time in years since the most recent endoscopy, age, PCs(1-3) | Effect weights for SNPs within the PGS were obtained using the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO) dataset. The GECCO dataset had no overlap with the dataset used to evaluate the score. |
| PPM002098 | PGS000802 (CRC_19) |
PSS001032| East Asian Ancestry| 2,566 individuals |
PGP000191 | He CY et al. Genomics (2021) |
Reported Trait: Colorectal cancer | — | — | Odds Ratio (OR, top 75% vs bottom 25%): 2.53 [1.99, 3.22] | Gender, age | — |
| PPM002099 | PGS000802 (CRC_19) |
PSS001031| East Asian Ancestry| 2,269 individuals |
PGP000191 | He CY et al. Genomics (2021) |
Reported Trait: Colorectal cancer | — | — | Odds Ratio (OR, top 75% vs bottom 25%): 2.12 [1.63, 2.77] | Gender, age | — |
| PPM002094 | PGS000802 (CRC_19) |
PSS001033| East Asian Ancestry| 5,465 individuals |
PGP000191 | He CY et al. Genomics (2021) |
Reported Trait: Colorectal cancer | — | AUROC: 0.59 [0.57, 0.6] | — | — | Possible overlap with score development samples |
| PPM002095 | PGS000802 (CRC_19) |
PSS001032| East Asian Ancestry| 2,566 individuals |
PGP000191 | He CY et al. Genomics (2021) |
Reported Trait: Colorectal cancer | — | AUROC: 0.61 [0.59, 0.63] | — | — | — |
| PPM002096 | PGS000802 (CRC_19) |
PSS001031| East Asian Ancestry| 2,269 individuals |
PGP000191 | He CY et al. Genomics (2021) |
Reported Trait: Colorectal cancer | — | AUROC: 0.59 [0.57, 0.61] | — | — | — |
| PPM002097 | PGS000802 (CRC_19) |
PSS001033| East Asian Ancestry| 5,465 individuals |
PGP000191 | He CY et al. Genomics (2021) |
Reported Trait: Colorectal cancer | — | — | Odds Ratio (OR, top 75% vs bottom 25%): 2.27 [1.95, 2.64] | Gender, age | possible overlap with score development samples |
| PPM009239 | PGS001776 (PRS45_CC) |
PSS007664| European Ancestry| 403,998 individuals |
PGP000256 | Gafni A et al. PLoS One (2021) |
Reported Trait: Full lifetime risk of colorectal cancer | β: 1.848 | AUROC: 0.673 [0.664, 0.682] | — | Family history | — |
| PPM009240 | PGS001776 (PRS45_CC) |
PSS007664| European Ancestry| 403,998 individuals |
PGP000256 | Gafni A et al. PLoS One (2021) |
Reported Trait: 10-year risk of colorectal cancer | β: 1.088 | AUROC: 0.674 [0.665, 0.683] | — | Family history | — |
| PPM009322 | PGS001802 (portability-PLR_153) |
PSS009272| European Ancestry| 18,722 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0376 [0.0233, 0.0519] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009323 | PGS001802 (portability-PLR_153) |
PSS009046| European Ancestry| 3,922 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0422 [0.0108, 0.0735] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009324 | PGS001802 (portability-PLR_153) |
PSS008600| European Ancestry| 6,241 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0237 [-0.0012, 0.0485] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009325 | PGS001802 (portability-PLR_153) |
PSS008378| Greater Middle Eastern Ancestry| 1,123 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0416 [-0.0175, 0.1004] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009326 | PGS001802 (portability-PLR_153) |
PSS008154| South Asian Ancestry| 6,010 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0135 [-0.0118, 0.0389] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009327 | PGS001802 (portability-PLR_153) |
PSS007942| East Asian Ancestry| 1,719 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0226 [-0.025, 0.0701] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009328 | PGS001802 (portability-PLR_153) |
PSS007724| African Ancestry| 2,362 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0193 [-0.0212, 0.0598] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM009329 | PGS001802 (portability-PLR_153) |
PSS008826| African Ancestry| 3,757 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0259 [-0.0062, 0.0579] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010978 | PGS002013 (portability-ldpred2_153) |
PSS009272| European Ancestry| 18,722 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0397 [0.0254, 0.054] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010979 | PGS002013 (portability-ldpred2_153) |
PSS009046| European Ancestry| 3,922 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0419 [0.0105, 0.0732] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010980 | PGS002013 (portability-ldpred2_153) |
PSS008600| European Ancestry| 6,241 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0234 [-0.0015, 0.0482] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010981 | PGS002013 (portability-ldpred2_153) |
PSS008378| Greater Middle Eastern Ancestry| 1,123 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0315 [-0.0276, 0.0904] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010982 | PGS002013 (portability-ldpred2_153) |
PSS008154| South Asian Ancestry| 6,010 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0275 [0.0021, 0.0528] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010983 | PGS002013 (portability-ldpred2_153) |
PSS007942| East Asian Ancestry| 1,719 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.026 [-0.0215, 0.0735] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010984 | PGS002013 (portability-ldpred2_153) |
PSS007724| African Ancestry| 2,362 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0053 [-0.0352, 0.0458] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM010985 | PGS002013 (portability-ldpred2_153) |
PSS008826| African Ancestry| 3,757 individuals |
PGP000263 | Privé F et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | — | — | Partial Correlation (partial-r): 0.0265 [-0.0056, 0.0585] | sex, age, birth date, deprivation index, 16 PCs | — |
| PPM012805 | PGS002252 (PRS_CRC) |
PSS009566| European Ancestry| 7,376 individuals |
PGP000279 | Archambault AN et al. J Natl Cancer Inst (2022) |
Reported Trait: Early-onset colorectal cancer | OR: 1.59 [1.51, 1.68] | AUROC: 0.628 [0.613, 0.644] | — | Age, sex, genotype platform, family history, principal components | — |
| PPM012806 | PGS002252 (PRS_CRC) |
PSS009566| European Ancestry| 7,376 individuals |
PGP000279 | Archambault AN et al. J Natl Cancer Inst (2022) |
Reported Trait: Early-onset colorectal cancer (men) | — | AUROC: 0.61 [0.592, 0.651] | — | Age, family history, genotype platform, principal components | — |
| PPM012807 | PGS002252 (PRS_CRC) |
PSS009566| European Ancestry| 7,376 individuals |
PGP000279 | Archambault AN et al. J Natl Cancer Inst (2022) |
Reported Trait: Early-onset colorectal cancer (women) | — | AUROC: 0.633 [0.612, 0.655] | — | Age, family history, genotype platform, principal components | — |
| PPM012808 | PGS002252 (PRS_CRC) |
PSS009566| European Ancestry| 7,376 individuals |
PGP000279 | Archambault AN et al. J Natl Cancer Inst (2022) |
Reported Trait: Proximal colon cancer | OR: 1.38 [1.27, 1.5] | AUROC: 0.592 [0.554, 0.63] | — | Age, family history, genotype platform, principal components | — |
| PPM012809 | PGS002252 (PRS_CRC) |
PSS009566| European Ancestry| 7,376 individuals |
PGP000279 | Archambault AN et al. J Natl Cancer Inst (2022) |
Reported Trait: Distal colon cancer | OR: 1.73 [1.6, 1.87] | AUROC: 0.643 [0.614, 0.671] | — | Age, family history, genotype platform, principal components | — |
| PPM012810 | PGS002252 (PRS_CRC) |
PSS009566| European Ancestry| 7,376 individuals |
PGP000279 | Archambault AN et al. J Natl Cancer Inst (2022) |
Reported Trait: Rectal cancer | OR: 1.67 [1.55, 1.8] | AUROC: 0.654 [0.63, 0.68] | — | Age, family history, genotype platform, principal components | — |
| PPM013009 | PGS002265 (PRS140_CRC) |
PSS009645| Ancestry Not Reported| 8,405 individuals |
PGP000319 | Guo F et al. Clin Gastroenterol Hepatol (2022) |Ext. |
Reported Trait: Risk of colorectal cancer | — | — | Odds ratio (OR, high vs low): 2.61 [2.33, 2.93] | Age, sex, education, body mass index, participation in a health check-up, family history of colorectal cancer, smoking, ever regular use of nonsteroidal anti-inflammatory drugs, and ever regular use of hormone replacement therapy | — |
| PPM014884 | PGS002265 (PRS140_CRC) |
PSS009918| European Ancestry| 5,306 individuals |
PGP000350 | Niedermaier T et al. Cancer Prev Res (Phila) (2022) |Ext. |
Reported Trait: Advanced colorectal neoplasia (Ridascreen model) | OR: 1.025 β: 0.02451 |
AUROC: 0.524 [0.499, 0.55] | — | — | — |
| PPM014885 | PGS002265 (PRS140_CRC) |
PSS009918| European Ancestry| 5,306 individuals |
PGP000350 | Niedermaier T et al. Cancer Prev Res (Phila) (2022) |Ext. |
Reported Trait: Advanced colorectal neoplasia (FOB Gold model) | OR: 1.036 β: 0.03518 |
AUROC: 0.53 [0.516, 0.545] | — | — | — |
| PPM018664 | PGS002265 (PRS140_CRC) |
PSS011059| European Ancestry| 72,791 individuals |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | — | AUROC: 0.629 [0.613, 0.645] | Hazard Ratio (HR, top 30% of PGS vs. remainder): 1.92 [1.75, 2.23] | age, sex | — |
| PPM018665 | PGS002265 (PRS140_CRC) |
PSS011058| East Asian Ancestry| 6,966 individuals |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | — | AUROC: 0.591 [0.536, 0.625] | — | age, sex | — |
| PPM018666 | PGS002265 (PRS140_CRC) |
PSS011060| Hispanic or Latin American Ancestry| 6,660 individuals |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | — | AUROC: 0.592 [0.531, 0.652] | — | age, sex | — |
| PPM018667 | PGS002265 (PRS140_CRC) |
PSS011057| African Ancestry| 5,249 individuals |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | — | AUROC: 0.581 [0.5, 0.645] | — | age, sex | — |
| PPM018668 | PGS002265 (PRS140_CRC) |
PSS011061| European Ancestry| 38,214 individuals |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | — | AUROC: 0.591 | — | age, sex | — |
| PPM020729 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Colorectal cancer | — | AUROC: 0.615 [0.529, 0.7] | — | — | — |
| PPM020730 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Advanced adenoma | — | AUROC: 0.589 [0.562, 0.616] | — | — | — |
| PPM020731 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Non-advanced adenoma | — | AUROC: 0.555 [0.534, 0.576] | — | — | — |
| PPM020732 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Any advanced neoplasms | — | AUROC: 0.591 [0.564, 0.617] | — | — | — |
| PPM020733 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Any advanced neoplasms (50 - 59 years) | — | AUROC: 0.586 [0.544, 0.628] | — | — | — |
| PPM020734 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Any advanced neoplasms (60 - 79 years) | — | AUROC: 0.597 [0.563, 0.631] | — | — | — |
| PPM020735 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Any advanced neoplasms (men) | — | AUROC: 0.593 [0.558, 0.629] | — | — | — |
| PPM020736 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Any advanced neoplasms (women) | — | AUROC: 0.593 [0.553, 0.633] | — | — | — |
| PPM020737 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Any advanced neoplasms (family history) | — | AUROC: 0.555 [0.471 - 0.639 | — | — | — |
| PPM020738 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Any advanced neoplasms (non family history) | — | AUROC: 0.599 [0.57, 0.627] | — | — | — |
| PPM020739 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Any advanced neoplasms (previous colonoscopy) | — | AUROC: 0.607 [0.551, 0.663] | — | — | — |
| PPM020740 | PGS002265 (PRS140_CRC) |
PSS011386| Ancestry Not Reported| 3,025 individuals |
PGP000573 | Niedermaier T et al. Cancer Commun (Lond) (2023) |Ext. |
Reported Trait: Any advanced neoplasms (no previous colonoscopy) | — | AUROC: 0.585 [0.555, 0.616] | — | — | — |
| PPM020902 | PGS002265 (PRS140_CRC) |
PSS011444| Multi-ancestry (including European)| 4,035 individuals |
PGP000601 | Niedermaier T et al. Clin Transl Gastroenterol (2022) |Ext. |
Reported Trait: Advanced neoplasia (colorectal cancer or advanced adenoma) | — | — | Positive predictive value (PPV, highest PRS tertile): 39.0 [36.0, 42.0] | — | Intermediate (90% specificity) FIT cutoff. |
| PPM020901 | PGS002265 (PRS140_CRC) |
PSS011445| Multi-ancestry (including European)| 1,271 individuals |
PGP000601 | Niedermaier T et al. Clin Transl Gastroenterol (2022) |Ext. |
Reported Trait: Advanced neoplasia (colorectal cancer or advanced adenoma) | — | — | Positive predictive value (PPV, highest PRS tertile): 37.0 [31.0, 43.0] | — | Intermediate (90% specificity) FIT cutoff. |
| PPM014906 | PGS002742 (PRS115_EAS) |
PSS009924| East Asian Ancestry| 1,454 individuals |
PGP000354 | Ping J et al. Int J Cancer (2022) |
Reported Trait: Colorectal cancer | OR: 1.63 [1.46, 1.83] | AUROC: 0.63 [0.6, 0.66] | — | — | — |
| PPM014909 | PGS002742 (PRS115_EAS) |
PSS009923| East Asian Ancestry| 1,736 individuals |
PGP000354 | Ping J et al. Int J Cancer (2022) |
Reported Trait: Colorectal cancer | OR: 1.51 [1.37, 1.67] | AUROC: 0.61 [0.59, 0.64] | — | — | — |
| PPM014907 | PGS002743 (PRS115_EUR) |
PSS009924| East Asian Ancestry| 1,454 individuals |
PGP000354 | Ping J et al. Int J Cancer (2022) |
Reported Trait: Colorectal cancer | OR: 1.44 [1.29, 1.6] | AUROC: 0.6 [0.57, 0.63] | — | — | — |
| PPM014910 | PGS002743 (PRS115_EUR) |
PSS009923| East Asian Ancestry| 1,736 individuals |
PGP000354 | Ping J et al. Int J Cancer (2022) |
Reported Trait: Colorectal cancer | OR: 1.39 [1.26, 1.53] | AUROC: 0.59 [0.56, 0.61] | — | — | — |
| PPM014908 | PGS002744 (PRS115_EUR_EAS) |
PSS009924| East Asian Ancestry| 1,454 individuals |
PGP000354 | Ping J et al. Int J Cancer (2022) |
Reported Trait: Colorectal cancer | OR: 1.68 [1.5, 1.89] | AUROC: 0.64 [0.61, 0.67] | — | — | — |
| PPM014911 | PGS002744 (PRS115_EUR_EAS) |
PSS009923| East Asian Ancestry| 1,736 individuals |
PGP000354 | Ping J et al. Int J Cancer (2022) |
Reported Trait: Colorectal cancer | OR: 1.5 [1.36, 1.66] | AUROC: 0.61 [0.58, 0.64] | — | — | — |
| PPM014958 | PGS002758 (Colorectal_cancer_prscs) |
PSS009939| European Ancestry| 39,444 individuals |
PGP000364 | Mars N et al. Am J Hum Genet (2022) |
Reported Trait: Colorectal cancer | OR: 1.61 [1.46, 1.77] | — | — | age, sex, 10 PCs, technical covariates | — |
| PPM016261 | PGS003386 (best_COADREAD) |
PSS010076| European Ancestry| 274,069 individuals |
PGP000413 | Namba S et al. Cancer Res (2022) |
Reported Trait: colorectal cancer | — | AUROC: 0.724 | R²: 0.0115 | age, sex, top 20 genetic principal components | — |
| PPM016277 | PGS003395 (PRScsx_CRC) |
PSS010093| East Asian Ancestry| 2,179 individuals |
PGP000414 | Xin J et al. Genome Med (2023) |
Reported Trait: Incident colorectal cancer | OR: 1.73 [1.56, 1.91] | AUROC: 0.646 | — | sex, age and principal components | — |
| PPM016278 | PGS003395 (PRScsx_CRC) |
PSS010092| European Ancestry| 2,573 individuals |
PGP000414 | Xin J et al. Genome Med (2023) |
Reported Trait: Incident colorectal cancer | OR: 1.48 [1.36, 1.62] | AUROC: 0.608 | — | sex, age and principal components | — |
| PPM016279 | PGS003395 (PRScsx_CRC) |
PSS010094| European Ancestry| 355,543 individuals |
PGP000414 | Xin J et al. Genome Med (2023) |
Reported Trait: Incident colorectal cancer | HR: 1.42 [1.37, 1.48] | AUROC: 0.597 | — | sex, age, center and principal components | — |
| PPM017117 | PGS003431 (LDPred2-inf) |
PSS010132| European Ancestry| 34,152 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.726 [0.704, 0.748] | R²: 7.0 [5.7, 8.4] | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017123 | PGS003431 (LDPred2-inf) |
PSS010133| European Ancestry| 33,893 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.715 [0.686, 0.743] | R²: 27.0 [21.7, 32.1] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017129 | PGS003431 (LDPred2-inf) |
PSS010134| Multi-ancestry (excluding European)| 27,503 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.588 [0.545, 0.627] | — | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017135 | PGS003431 (LDPred2-inf) |
PSS010135| Multi-ancestry (excluding European)| 27,310 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.647 [0.593, 0.7] | R²: 17.2 [9.2, 27.9] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017105 | PGS003431 (LDPred2-inf) |
PSS010130| European Ancestry| 280,664 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | OR: 1.435 [1.391, 1.48] | AUROC: 0.704 [0.697, 0.712] | R²: 5.5 [5.1, 5.9] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy and scaled Brier available in source publication |
| PPM017111 | PGS003431 (LDPred2-inf) |
PSS010131| European Ancestry| 278,493 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: incident Colorectal cancer | HR: 1.368 [1.31, 1.428] | C-index: 0.696 [0.685, 0.707] | R²: 22.0 [20.1, 24.0] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017106 | PGS003432 (LDPred2-grid) |
PSS010130| European Ancestry| 280,664 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | OR: 1.584 [1.536, 1.633] | AUROC: 0.717 [0.711, 0.725] | R²: 6.3 [5.9, 6.8] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy and scaled Brier available in source publication |
| PPM017118 | PGS003432 (LDPred2-grid) |
PSS010132| European Ancestry| 34,152 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.732 [0.71, 0.752] | R²: 7.6 [6.1, 8.9] | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017124 | PGS003432 (LDPred2-grid) |
PSS010133| European Ancestry| 33,893 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.724 [0.696, 0.751] | R²: 28.3 [23.2, 33.3] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017130 | PGS003432 (LDPred2-grid) |
PSS010134| Multi-ancestry (excluding European)| 27,503 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.602 [0.558, 0.64] | — | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017136 | PGS003432 (LDPred2-grid) |
PSS010135| Multi-ancestry (excluding European)| 27,310 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.666 [0.61, 0.72] | R²: 20.3 [11.5, 31.1] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017112 | PGS003432 (LDPred2-grid) |
PSS010131| European Ancestry| 278,493 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: incident Colorectal cancer | HR: 1.563 [1.498, 1.631] | C-index: 0.714 [0.704, 0.726] | R²: 25.6 [23.8, 27.8] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017107 | PGS003433 (LDPred2-grid-sp) |
PSS010130| European Ancestry| 280,664 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | OR: 1.571 [1.524, 1.62] | AUROC: 0.716 [0.71, 0.723] | R²: 6.2 [5.8, 6.7] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy and scaled Brier available in source publication |
| PPM017119 | PGS003433 (LDPred2-grid-sp) |
PSS010132| European Ancestry| 34,152 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.733 [0.71, 0.753] | R²: 7.6 [6.1, 8.9] | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017125 | PGS003433 (LDPred2-grid-sp) |
PSS010133| European Ancestry| 33,893 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.725 [0.696, 0.752] | R²: 28.5 [23.4, 33.7] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017131 | PGS003433 (LDPred2-grid-sp) |
PSS010134| Multi-ancestry (excluding European)| 27,503 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.601 [0.559, 0.64] | — | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017137 | PGS003433 (LDPred2-grid-sp) |
PSS010135| Multi-ancestry (excluding European)| 27,310 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.664 [0.609, 0.718] | R²: 20.2 [11.4, 30.7] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017141 | PGS003433 (LDPred2-grid-sp) |
PSS010129| Multi-ancestry (excluding European)| 196,091 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer in men | — | C-index: 0.73 [0.72, 0.741] | R²: 28.2 [26.3, 30.1] For top 20% absolute risk sensitivity: 47.8 % specificty: 80.3 % |
QCancer-10 score | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017142 | PGS003433 (LDPred2-grid-sp) |
PSS010128| Multi-ancestry (excluding European)| 238,496 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: incident Colorectal cancer in females | — | C-index: 0.687 [0.673, 0.702] | R²: 21.0 [18.7, 23.7] For top 20% absolute risk sensitivity: 42.7 % specificty: 80.1 % |
QCancer-10 score | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017113 | PGS003433 (LDPred2-grid-sp) |
PSS010131| European Ancestry| 278,493 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: incident Colorectal cancer | HR: 1.545 [1.48, 1.612] | C-index: 0.712 [0.702, 0.723] | R²: 25.3 [23.4, 27.3] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017108 | PGS003434 (SCT) |
PSS010130| European Ancestry| 280,664 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | OR: 1.417 [1.375, 1.461] | AUROC: 0.702 [0.695, 0.711] | R²: 5.4 [5.0, 5.9] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy and scaled Brier available in source publication |
| PPM017114 | PGS003434 (SCT) |
PSS010131| European Ancestry| 278,493 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: incident Colorectal cancer | HR: 1.378 [1.321, 1.438] | C-index: 0.695 [0.685, 0.706] | R²: 22.3 [20.3, 24.4] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017120 | PGS003434 (SCT) |
PSS010132| European Ancestry| 34,152 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.718 [0.696, 0.739] | R²: 6.4 [5.0, 7.7] | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017126 | PGS003434 (SCT) |
PSS010133| European Ancestry| 33,893 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.713 [0.686, 0.74] | R²: 25.1 [20.2, 30.2] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017132 | PGS003434 (SCT) |
PSS010134| Multi-ancestry (excluding European)| 27,503 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.589 [0.546, 0.626] | — | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017138 | PGS003434 (SCT) |
PSS010135| Multi-ancestry (excluding European)| 27,310 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.65 [0.596, 0.705] | R²: 17.4 [8.9, 28.1] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017109 | PGS003435 (CT) |
PSS010130| European Ancestry| 280,664 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | OR: 1.425 [1.382, 1.47] | AUROC: 0.704 [0.697, 0.711] | R²: 5.4 [5.1, 5.9] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy and scaled Brier available in source publication |
| PPM017115 | PGS003435 (CT) |
PSS010131| European Ancestry| 278,493 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: incident Colorectal cancer | HR: 1.397 [1.338, 1.459] | C-index: 0.698 [0.689, 0.709] | R²: 22.4 [20.6, 24.4] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017121 | PGS003435 (CT) |
PSS010132| European Ancestry| 34,152 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.719 [0.696, 0.74] | R²: 6.6 [5.2, 7.9] | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017127 | PGS003435 (CT) |
PSS010133| European Ancestry| 33,893 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.707 [0.681, 0.734] | R²: 25.1 [20.0, 30.3] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017133 | PGS003435 (CT) |
PSS010134| Multi-ancestry (excluding European)| 27,503 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.597 [0.554, 0.636] | — | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017139 | PGS003435 (CT) |
PSS010135| Multi-ancestry (excluding European)| 27,310 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.658 [0.606, 0.71] | R²: 18.7 [10.0, 29.4] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017110 | PGS003436 (GWAS-sig) |
PSS010130| European Ancestry| 280,664 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | OR: 1.39 [1.348, 1.433] | AUROC: 0.7 [0.693, 0.707] | R²: 5.3 [4.9, 5.7] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy and scaled Brier available in source publication |
| PPM017116 | PGS003436 (GWAS-sig) |
PSS010131| European Ancestry| 278,493 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: incident Colorectal cancer | HR: 1.377 [1.32, 1.436] | C-index: 0.695 [0.685, 0.706] | R²: 22.2 [20.2, 24.4] | age, sex, PC1-4, array | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017122 | PGS003436 (GWAS-sig) |
PSS010132| European Ancestry| 34,152 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.703 [0.679, 0.724] | R²: 5.4 [4.0, 6.7] | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017128 | PGS003436 (GWAS-sig) |
PSS010133| European Ancestry| 33,893 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.701 [0.675, 0.729] | R²: 23.8 [19.0, 29.4] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017134 | PGS003436 (GWAS-sig) |
PSS010134| Multi-ancestry (excluding European)| 27,503 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Colorectal cancer | — | AUROC: 0.587 [0.543, 0.624] | — | age, sex, PC1-4, array | Dxy, scaled Brier, calibration slope and CITL available in source publication |
| PPM017140 | PGS003436 (GWAS-sig) |
PSS010135| Multi-ancestry (excluding European)| 27,310 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer | — | C-index: 0.659 [0.605, 0.715] | R²: 19.1 [10.3, 29.9] | age, sex, PC1-4, array | Dxy, D statistic, scaled Brier, calibration slope, available in source publication |
| PPM017143 | PGS003436 (GWAS-sig) |
PSS010129| Multi-ancestry (excluding European)| 196,091 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: Incident Colorectal cancer in men | — | C-index: 0.715 [0.706, 0.726] | R²: 25.6 [23.9, 27.5] For top 20% absolute risk sensitivity: 44.4 % specificty: 80.2 % |
QCancer-10 score | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017144 | PGS003436 (GWAS-sig) |
PSS010128| Multi-ancestry (excluding European)| 238,496 individuals |
PGP000438 | Briggs SEW et al. BMJ (2022) |
Reported Trait: incident Colorectal cancer in females | — | C-index: 0.669 [0.655, 0.683] | R²: 17.0 [14.8, 19.3] For top 20% absolute risk sensitivity: 39.2 % specificty: 80.1 % |
QCancer-10 score | Apparent performance presented, results for internal validation presented in source publication. Dxy, D statistic, and scaled Brier available in source publication |
| PPM017158 | PGS003439 (PRSCC_140) |
PSS010138| European Ancestry| 66,282 individuals |
PGP000441 | Su YR et al. Cancer Epidemiol Biomarkers Prev (2023) |
Reported Trait: 5 year colorectal cancer risk | — | AUROC: 0.73 [0.71, 0.76] | — | age, first-degree CRC family history, sex, endoscopy history | — |
| PPM017159 | PGS003439 (PRSCC_140) |
PSS010138| European Ancestry| 66,282 individuals |
PGP000441 | Su YR et al. Cancer Epidemiol Biomarkers Prev (2023) |
Reported Trait: 10 year colorectal cancer risk | — | AUROC: 0.72 [0.7, 0.74] | — | age, first-degree CRC family history, sex, endoscopy history | — |
| PPM018495 | PGS003739 (PRS81_CoC) |
PSS010988| European Ancestry| 470 individuals |
PGP000470 | Xin J et al. EBioMedicine (2023) |
Reported Trait: Colorectal cancer | OR: 1.37 [1.24, 1.51] | — | — | — | — |
| PPM018549 | PGS003760 (PRS49_EOCRC) |
PSS011018| Multi-ancestry (including European)| 25,150 individuals |
PGP000480 | Wang H et al. Genome Med (2023) |
Reported Trait: Early onset colorectal cancer | — | — | Odds ratio (OR, Quartile 4 vs Quartile 1): 1.64 [1.32, 2.03] | Sex, ethnicity, drinking frequency, smoke status, and family history | — |
| PPM018677 | PGS003850 (CRC_PRS_200loci) |
PSS011062| Additional Asian Ancestries| 12,025 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Ext.|Pre |
Reported Trait: Colorectal cancer | OR: 1.3 | AUROC: 0.6 [0.59, 0.62] | — | Age, sex, PCs 1-4 | — |
| PPM018678 | PGS003850 (CRC_PRS_200loci) |
PSS011063| African Ancestry| 13,823 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Ext.|Pre |
Reported Trait: Colorectal cancer | OR: 1.25 | AUROC: 0.58 [0.56, 0.59] | — | Age, sex, PCs 1-4 | — |
| PPM018679 | PGS003850 (CRC_PRS_200loci) |
PSS011064| Hispanic or Latin American Ancestry| 10,377 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Ext.|Pre |
Reported Trait: Colorectal cancer | OR: 1.37 | AUROC: 0.59 [0.57, 0.6] | — | Age, sex, PCs 1-4 | — |
| PPM018680 | PGS003850 (CRC_PRS_200loci) |
PSS011065| European Ancestry| 118,756 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Ext.|Pre |
Reported Trait: Colorectal cancer | OR: 1.62 | AUROC: 0.61 [0.6, 0.62] | — | Age, sex, PCs 1-4 | — |
| PPM018681 | PGS003851 (CRC_PRS_EUR) |
PSS011062| Additional Asian Ancestries| 12,025 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Ext.|Pre |
Reported Trait: Colorectal cancer | — | AUROC: 0.619 [0.547, 0.689] | — | Age, sex, PCs 1-10 | — |
| PPM018682 | PGS003851 (CRC_PRS_EUR) |
PSS011063| African Ancestry| 13,823 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Ext.|Pre |
Reported Trait: Colorectal cancer | — | AUROC: 0.526 [0.419, 0.62] | — | Age, sex, PCs 1-10 | — |
| PPM018683 | PGS003851 (CRC_PRS_EUR) |
PSS011064| Hispanic or Latin American Ancestry| 10,377 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Ext.|Pre |
Reported Trait: Colorectal cancer | — | AUROC: 0.584 [0.511, 0.656] | — | Age, sex, PCs 1-10 | — |
| PPM018684 | PGS003851 (CRC_PRS_EUR) |
PSS011065| European Ancestry| 118,756 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Ext.|Pre |
Reported Trait: Colorectal cancer | — | AUROC: 0.638 [0.624, 0.652] | — | Age, sex, PCs 1-10 | — |
| PPM018669 | PGS003851 (CRC_PRS_EUR) |
PSS011059| European Ancestry| 72,791 individuals |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | — | AUROC: 0.654 [0.639, 0.669] | — | age, sex | — |
| PPM018670 | PGS003851 (CRC_PRS_EUR) |
PSS011058| East Asian Ancestry| 6,966 individuals |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | — | AUROC: 0.601 [0.538, 0.664] | — | age, sex | — |
| PPM018671 | PGS003851 (CRC_PRS_EUR) |
PSS011057| African Ancestry| 5,249 individuals |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | — | AUROC: 0.543 [0.5, 0.6241] | — | age, sex | — |
| PPM018672 | PGS003851 (CRC_PRS_EUR) |
PSS011060| Hispanic or Latin American Ancestry| 6,660 individuals |
PGP000294 | Thomas M et al. Am J Hum Genet (2020) |
Reported Trait: Colorectal cancer | — | AUROC: 0.602 [0.542, 0.662] | — | age, sex | — |
| PPM018673 | PGS003852 (CRC_PRS_EUR_EAS) |
PSS011062| Additional Asian Ancestries| 12,025 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Pre |
Reported Trait: Colorectal cancer | OR: 1.64 [1.55, 1.74] | AUROC: 0.63 [0.62, 0.64] | — | Age, sex, PCs 1-4 | — |
| PPM018674 | PGS003852 (CRC_PRS_EUR_EAS) |
PSS011063| African Ancestry| 13,823 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Pre |
Reported Trait: Colorectal cancer | OR: 1.39 [1.31, 1.47] | AUROC: 0.59 [0.57, 0.61] | — | Age, sex, PCs 1-4 | — |
| PPM018675 | PGS003852 (CRC_PRS_EUR_EAS) |
PSS011064| Hispanic or Latin American Ancestry| 10,377 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Pre |
Reported Trait: Colorectal cancer | OR: 1.62 [1.51, 1.73] | AUROC: 0.62 [0.6, 0.63] | — | Age, sex, PCs 1-4 | — |
| PPM018676 | PGS003852 (CRC_PRS_EUR_EAS) |
PSS011065| European Ancestry| 118,756 individuals |
PGP000492 | Thomas M T et al. medRxiv (2023) |Pre |
Reported Trait: Colorectal cancer | OR: 1.67 [1.6, 1.75] | AUROC: 0.65 [0.64, 0.66] | — | Age, sex, PCs 1-4 | — |
| PPM019147 | PGS003979 (CRC_PRSCS) |
PSS011211| European Ancestry| 453,733 individuals |
PGP000515 | Tamlander M et al. Br J Cancer (2023) |
Reported Trait: Colorectal cancer | OR: 1.63 [1.6, 1.67] | AUROC: 0.795 [0.791, 0.799] | — | year of birth, sex, ten first principal components of ancestry, genotyping batch, genotyping array | — |
| PPM020292 | PGS004240 (PRS89_CRC) |
PSS011326| Multi-ancestry (including European)| 3,809 individuals |
PGP000541 | Fan L et al. Int J Cancer (2023) |
Reported Trait: Colorectal cancer | — | — | Hazard ratio (HR, high vs low PRS tertile): 2.51 [2.04, 3.09] | Age, sex, red meat intake, BMI, family history of CRC, smoking status, alcohol intake, townsend deprivation index, race, education (College or University degree, vocational qualifications, optional national exams at ages 17 to 18 years, national exams at age 16 years, none of the above, unknown), other common diseases (hypertension, heart diseases, diabetes) | — |
| PPM020293 | PGS004240 (PRS89_CRC) |
PSS011327| Multi-ancestry (including European)| 125,021 individuals |
PGP000541 | Fan L et al. Int J Cancer (2023) |
Reported Trait: Colorectal cancer | — | — | Hazard ratio (HR, high vs low PRS tertile): 2.48 [2.11, 2.91] | Age, sex, red meat intake, BMI, family history of CRC, smoking status, alcohol intake, townsend deprivation index, race, education (College or University degree, vocational qualifications, optional national exams at ages 17 to 18 years, national exams at age 16 years, none of the above, unknown), other common diseases (hypertension, heart diseases, diabetes) | — |
| PPM020294 | PGS004240 (PRS89_CRC) |
PSS011327| Multi-ancestry (including European)| 125,021 individuals |
PGP000541 | Fan L et al. Int J Cancer (2023) |
Reported Trait: Colorectal cancer x Saturated fatty acids interaction | HR: 1.14 [1.11, 1.18] | — | — | Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) | — |
| PPM020295 | PGS004240 (PRS89_CRC) |
PSS011326| Multi-ancestry (including European)| 3,809 individuals |
PGP000541 | Fan L et al. Int J Cancer (2023) |
Reported Trait: Colorectal cancer x Saturated fatty acids interaction | HR: 1.17 [1.12, 1.22] | — | — | Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) | — |
| PPM020296 | PGS004240 (PRS89_CRC) |
PSS011327| Multi-ancestry (including European)| 125,021 individuals |
PGP000541 | Fan L et al. Int J Cancer (2023) |
Reported Trait: Colorectal cancer (with saturated fatty acid and clinical risk factors) | — | AUROC: 0.734 [0.72, 0.749] | — | Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) | — |
| PPM020297 | PGS004240 (PRS89_CRC) |
PSS011326| Multi-ancestry (including European)| 3,809 individuals |
PGP000541 | Fan L et al. Int J Cancer (2023) |
Reported Trait: Colorectal cancer (with saturated fatty acid and clinical risk factors) | — | AUROC: 0.662 [0.64, 0.683] | — | Age, sex, race, BMI, family history, red meat intake, smoking status, alcohol intake, townsend deprivation index, education level, other common diseases (hypertension, heart diseases, diabetes) | — |
| PPM020300 | PGS004243 (PRS67_colorectum) |
PSS011328| European Ancestry| 133,830 individuals |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Reported Trait: Colorectal cancer | HR: 1.49 [1.39, 1.61] | — | — | first 10 genetic principal components | — |
| PPM020309 | PGS004243 (PRS67_colorectum) |
PSS011329| European Ancestry| 115,207 individuals |
PGP000542 | Kim ES et al. NPJ Precis Oncol (2023) |
Reported Trait: Colorectal cancer | HR: 1.51 [1.42, 1.61] | — | — | first 10 genetic principal components | — |
| PPM020560 | PGS004445 (disease.D12.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: D12 (Benign neoplasm of colon, rectum, anus and anal canal) | OR: 1.19821 | — | — | — | — |
| PPM020630 | PGS004515 (meta.D12.score) |
PSS011364| European Ancestry| 56,192 individuals |
PGP000561 | Jung H et al. Commun Biol (2024) |
Reported Trait: D12 (Benign neoplasm of colon, rectum, anus and anal canal) | OR: 1.20806 | — | — | — | — |
| PPM020695 | PGS004580 (CRC_PRSCS) |
PSS011366| European Ancestry| 342,499 individuals |
PGP000562 | Youssef O et al. Lab Invest (2024) |
Reported Trait: Colorectal cancer | OR: 1.5 [1.46, 1.55] | — | — | — | — |
| PPM020874 | PGS004689 (colorectal_cancer) |
PSS011433| European Ancestry| 40,648 individuals |
PGP000596 | Hu J et al. JNCI Cancer Spectr (2024) |
Reported Trait: Colorectal cancer | — | AUROC: 0.556 | — | — | — |
|
PGS Sample Set ID (PSS) |
Phenotype Definitions and Methods | Participant Follow-up Time | Sample Numbers | Age of Study Participants | Sample Ancestry | Additional Ancestry Description | Cohort(s) | Additional Sample/Cohort Information |
|---|---|---|---|---|---|---|---|---|
| PSS008154 | — | — | 6,010 individuals | — | South Asian | India (South Asia) | UKB | — |
| PSS011433 | — | — | [
|
— | European | — | UKB | — |
| PSS010128 | Colorectal cancer identified through self-report at UK Biobank study enrolment visit and ICD-9 (153, 154.0, 154.1) and ICD-10 (C18-C20) codes in linked cancer and death registries and hospital data. | Median = 7.0 years | [
|
Median = 57.0 years | Other, NR | All ancestral backgrounds within UKB | UKB | Cohort for integrated model development in women |
| PSS011444 | Participants were classified according to the most advanced finding at colonoscopy (CRC, AA, non-advanced adenoma, other or none of above). Fecal hemoglobin concentrations were measured using Ridascreen Haemoglobin which is based on an enzyme immunoassay (participants recruited until December 2008), and FOB Gold which is based on a latex agglutination assay (participants recruited from December 2008 on). In both groups of participants, fully automated FIT analyses were conducted, blinded with respect to colonoscopy results, using Tecan Freedom Evolyzer (Ridascreen Haemoglobin) and Abbott Architect c8000 (FOB Gold), respectively. | — | [ ,
51.4 % Male samples |
Mean = 61.8 years | European, Not reported | — | BLITZ | — |
| PSS011445 | Participants were classified according to the most advanced finding at colonoscopy (CRC, AA, non-advanced adenoma, other or none of above). Fecal hemoglobin concentrations were measured using Ridascreen Haemoglobin which is based on an enzyme immunoassay (participants recruited until December 2008), and FOB Gold which is based on a latex agglutination assay (participants recruited from December 2008 on). In both groups of participants, fully automated FIT analyses were conducted, blinded with respect to colonoscopy results, using Tecan Freedom Evolyzer (Ridascreen Haemoglobin) and Abbott Architect c8000 (FOB Gold), respectively. | — | [ ,
53.5 % Male samples |
Mean = 63.1 years | European, Not reported | — | BLITZ | — |
| PSS009593 | — | — | [
|
— | Not reported | — | TCGA | — |
| PSS011057 | — | — | [ ,
65.5 % Male samples |
Mean = 61.6 years Range = [20.0, 90.0] years |
African American or Afro-Caribbean (African American) |
— | GERA | — |
| PSS011059 | — | — | [ ,
41.6 % Male samples |
Mean = 62.3 years Range = [20.0, 90.0] years |
European | — | GERA | — |
| PSS011058 | — | — | [ ,
42.1 % Male samples |
Mean = 55.8 years Range = [20.0, 90.0] years |
East Asian | — | GERA | — |
| PSS011060 | — | — | [ ,
38.7 % Male samples |
Mean = 55.0 years Range = [20.0, 90.0] years |
Hispanic or Latin American | — | GERA | — |
| PSS011061 | The colorectal cancer case subjects were defined as those who had at least two ICD9/10 codes for CRC. Control sub- jects had zero ICD9/10 codes for CRC. Participants with a single ICD9/10 code for CRC were excluded from analysis. | — | [
|
— | European | — | eMERGE | — |
| PSS011062 | — | — | [ ,
50.5 % Male samples |
Mean = 64.5 years | Asian unspecified | — | GERA, MG-JPN | — |
| PSS011063 | — | — | [ ,
44.0 % Male samples |
Mean = 61.33 years | African American or Afro-Caribbean | — | GERA, MG-AA, eMERGE | — |
| PSS011064 | — | — | [ ,
47.5 % Male samples |
Mean = 64.0 years | Hispanic or Latin American | — | GERA, HCCS | — |
| PSS011065 | — | — | [ ,
52.75 % Male samples |
Mean = 65.75 years | European | — | BCC, CPSII, GERA, eMERGE | — |
| PSS011070 | — | — | 332 individuals, 0.0 % Male samples |
Median = 58.0 years IQR = [52.0, 64.0] years |
East Asian (Chinese) |
— | SCHS | — |
| PSS011071 | — | — | 409 individuals, 100.0 % Male samples |
Median = 59.0 years IQR = [52.0, 65.0] years |
East Asian (Chinese) |
— | SCHS | — |
| PSS007724 | — | — | 2,362 individuals | — | African American or Afro-Caribbean | Carribean | UKB | — |
| PSS009272 | — | — | 18,722 individuals | — | European | UK (+ Ireland) | UKB | — |
| PSS009918 | — | — | 5,306 individuals, 51.9 % Male samples |
Mean = 62.1 years | European | — | BLITZ | — |
| PSS009923 | — | — | [
|
— | East Asian (Chinese) |
— | NR | — |
| PSS009924 | — | — | [
|
— | East Asian (Korean) |
— | NR | — |
| PSS008826 | — | — | 3,757 individuals | — | African unspecified | Nigeria (West Africa) | UKB | — |
| PSS009645 | — | — | [
|
— | Not reported | — | DACHS | — |
| PSS000855 | Data and diagnoses on site-specific incident cancers were provided by the National Health Service Information Centre for participants from England and Wales (follow-up through March 31, 2016) and by the NHS Central Register Scotland for participants from Scotland (follow-up through October 31, 2015). Cancers were coded by the International Classification of Diseases, Ninth Revision (ICD-9) or the International Classification of Diseases, Tenth Revision (ICD-10). Colorectal Cancer=(ICD-9 = 153, 154.1 or ICD-10 = C18, C20) | Median = 5.8 years | [ ,
46.5 % Male samples |
— | European | — | UKB | — |
| PSS010076 | C18, C19, C20 | — | [
|
— | European (British) |
— | UKB | Controls were samples without any cancer diagnosis or self-reported cancer |
| PSS009939 | — | — | 39,444 individuals | — | European (Finnish) |
— | FinnGen | — |
| PSS010092 | — | — | [
|
— | European | — | CORSA | — |
| PSS010093 | — | — | [
|
— | East Asian (Chinese) |
— | NR | JSCRC |
| PSS010094 | — | — | 355,543 individuals | — | European | — | UKB | — |
| PSS000538 | PheCode:153.2; ICD9CM:153.0, 153.1, 153.2, 153.3, 153.4, 153.5, 153.6, 153.7, 153.8, 153.9, 159.0, 209.10, 209.11, 209.12, 209.13, 209.14, 209.15, 209.16, 230.3, V10.05; ICD10CM:C18, C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0 | — | [
|
— | European | — | MGI | — |
| PSS000539 | PheCode:153.3; ICD9CM:154.0, 154.1, 154.2, 154.3, 209.17, 230.4, 230.5, 230.6, 796.70, 796.71, 796.72, 796.73, 796.74, 796.76, V10.06; ICD10CM:C19, C20, C21.0, C21.1, C7A.026, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619 | — | [
|
— | European | — | MGI | — |
| PSS001013 | Individuals with at least one recorded incident diagnosis of a borderline, in situ, or malignant primary cancer were defined as cases. | — | [
|
— | European | — | UKB | — |
| PSS000540 | PheCode:153; ICD9CM:153.0, 153.1, 153.2, 153.3, 153.4, 153.5, 153.6, 153.7, 153.8, 153.9, 154.0, 154.1, 154.2, 154.3, 154.8, 159.0, 209.10, 209.11, 209.12, 209.13, 209.14, 209.15, 209.16, 209.17, 230.3, 230.4, 230.5, 230.6, 796.70, 796.71, 796.72, 796.73, 796.74, 796.76, V10.05, V10.06; ICD10CM:C18, C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C19, C20, C21.0, C21.1, C21.2, C21.8, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.026, C7A.029, D01.0, D01.1, D01.2, D01.3, R85.610, R85.611, R85.612, R85.613, R85.614, R85.619 | — | [
|
— | European | — | MGI | — |
| PSS008378 | — | — | 1,123 individuals | — | Greater Middle Eastern (Middle Eastern, North African or Persian) | Iran (Middle East) | UKB | — |
| PSS011326 | — | — | [ ,
56.4 % Male samples |
Mean = 60.9 years Sd = 6.15 years |
European, Asian unspecified, African unspecified, East Asian, Not reported | European (>97%), Asian unspecified, African unspecified, East Asian, Not reported | UKB | — |
| PSS011327 | — | — | [ ,
44.9 % Male samples |
Mean = 54.9 years Sd = 7.9 years |
European, Asian unspecified, African unspecified, East Asian, Not reported | European (>95%), Asian unspecified, African unspecified, East Asian, Not reported | UKB | — |
| PSS000893 | Participants were 50 years of age or older. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection. | — | [
|
Range = [50.0, 100.0] years | European | — | RPGEH | — |
| PSS000894 | Participants were under 50 years of age. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection. | — | [
|
Range = [0.0, 50.0] years | European | — | RPGEH | — |
| PSS000251 | Colorectal adenocarcinoma located in the distal colon confirmed by medical records, pathology reports, or death certificate | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Training and test split not relevant to PGS |
| PSS000252 | Colorectal adenocarcinoma located in the distal colon confirmed by medical records, pathology reports, or death certificate | — | [ ,
100.0 % Male samples |
— | European | — | 6 cohorts
|
Training and test split not relevant to PGS |
| PSS000253 | Colorectal adenocarcinoma located in the proximal colon confirmed by medical records, pathology reports, or death certificate | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Training and test split not relevant to PGS |
| PSS000254 | Colorectal adenocarcinoma located in the proximal colon confirmed by medical records, pathology reports, or death certificate | — | [ ,
100.0 % Male samples |
— | European | — | 6 cohorts
|
Training and test split not relevant to PGS |
| PSS000255 | Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or death certificate | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Training and test split not relevant to PGS |
| PSS000256 | Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or death certificate | — | [ ,
100.0 % Male samples |
— | European | — | 6 cohorts
|
Training and test split not relevant to PGS |
| PSS000257 | Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate | — | [ ,
0.0 % Male samples |
— | European | — | 6 cohorts
|
Training and test split not relevant to PGS |
| PSS000258 | Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate | — | [ ,
100.0 % Male samples |
— | European | — | 6 cohorts
|
Training and test split not relevant to PGS |
| PSS000564 | PheCode:153; ICD9:154.8; ICD10:C18.0, C18.1, C18.2, C18.3, C18.4, C18.5, C18.6, C18.7, C18.8, C18.9, C19, C20, C21.0, C21.1, C21.8, C26.0, D01.0, D01.1, D01.2, D01.3 | — | [
|
— | European | — | UKB | — |
| PSS000259 | — | — | [ ,
57.21 % Male samples |
Range = [25.0, 90.0] years | European (Spanish) |
— | MCC-Spain | — |
| PSS000897 | Participants were 50 years of age or older with a history of colorectal cancer. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection. | — | [
|
Range = [50.0, 100.0] years | European | — | RPGEH | — |
| PSS011328 | — | — | 133,830 individuals, 0.0 % Male samples |
— | European (British) |
— | UKB | — |
| PSS011329 | — | — | 115,207 individuals, 100.0 % Male samples |
— | European (British) |
— | UKB | — |
| PSS000086 | — | — | [
|
— | East Asian | — | 8 cohorts
|
— |
| PSS000087 | — | — | [
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— | European | — | 8 cohorts
|
— |
| PSS001030 | Cases included individuals with polyps. Of the 5331 cases, 2952 had conventional adenomas (CAs), 1585 had serrated polyps (SAs) and 794 had sychronous CAs and SPs. CAs were defined as tubular, tubulovillous and villous adenomas and adenomas with high-grade dysplasia. Advanced CAs were defined by at least one CA ≥10 mm in diameter or with advanced histology (tubulovillous/villous histological features or high-grade/severe dysplasia) or ≥3 CAs regardless of histology or size. SPs were defined as hyperplastic polyps and mixed/serrated adenomas. Individuals at high risk of malignancy were defined as having SPs located in the proximal colon or with a size of ≥10 mm. Mixed/serrated ademonas were defined as both mixed polyps (those with both adenomatous and hyperplastic changes in histology) and polyps with any serrated diagnosis (e.g. serrated adenomas, serrated polyps and SSA/Ps). If a participant had both CAs and SPs in an endoscopy, each type of the polyps were recorded separately, and considered the patient as a synchronous SP and CA case. | — | [ ,
30.0 % Male samples |
Mean = 63.2 years Sd = 10.0 years |
European | — | HPFS, NHS, NHS2 | — |
| PSS001031 | Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases related to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations. | — | [ ,
51.39 % Male samples |
— | East Asian (Han-Chinese) |
— | NR | Subects obtained from First Hospital of China Medical University (CMU) |
| PSS001032 | Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases related to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations. | — | [ ,
53.86 % Male samples |
— | East Asian (Han-Chinese) |
— | NR | Subjects obtained from Fudan University Shanghai Cancer Center (FUSCC) |
| PSS001033 | Exclusion criteria for healthy controls included subjects with polyposis, adenomas, and diseases related to or causing a predisposition for cancer. Cases included subjects with colorectal cancer, confirmed by endoscopic and histological examinations. | — | [ ,
53.72 % Male samples |
— | East Asian (Han-Chinese) |
— | NR | Subjects obtained from Sun Yat-Sen University Cancer Center (SYSUCC) |
| PSS009971 | — | — | 30,716 individuals | — | European | — | MGBB | — |
| PSS009971 | — | — | 1,807 individuals | — | African unspecified (Black) |
— | MGBB | — |
| PSS009971 | — | — | 786 individuals | — | Asian unspecified | — | MGBB | — |
| PSS009971 | — | — | 3,113 individuals | — | Other | — | MGBB | — |
| PSS010129 | Colorectal cancer identified through self-report at UK Biobank study enrolment visit and ICD-9 (153, 154.0, 154.1) and ICD-10 (C18-C20) codes in linked cancer and death registries and hospital data. | Median = 7.0 years | [
|
Median = 58.0 years | Other, NR | All ancestral backgrounds within UKB | UKB | Cohort for integrated model development in men |
| PSS010130 | Colorectal cancer identified through self-report at UK Biobank study enrolment visit and ICD-9 (153, 154.0, 154.1) and ICD-10 (C18-C20) codes in linked cancer and death registries and hospital data. | — | [
|
— | European (British) |
— | UKB | Cohort for logistic regression model testing |
| PSS010131 | Colorectal cancer identified through self-report at UK Biobank study enrolment visit and ICD-9 (153, 154.0, 154.1) and ICD-10 (C18-C20) codes in linked cancer and death registries and hospital data. | — | [
|
— | European (British) |
— | UKB | Cohort for logistic regression model testing |
| PSS010132 | Colorectal cancer identified through self-report at UK Biobank study enrolment visit and ICD-9 (153, 154.0, 154.1) and ICD-10 (C18-C20) codes in linked cancer and death registries and hospital data. | — | [
|
— | European | Scottish UKB participants self-identifying as "British", "Irish", "white" or "any other white background|" | UKB | Cohort for logistic regression model validation (European populations) |
| PSS010133 | Colorectal cancer identified through self-report at UK Biobank study enrolment visit and ICD-9 (153, 154.0, 154.1) and ICD-10 (C18-C20) codes in linked cancer and death registries and hospital data. | Median = 7.0 years | [
|
— | European | Scottish UKB participants self-identifying as "British", "Irish", "white" or "any other white background|" | UKB | Cohort for cox regression model validation (European populations) |
| PSS000260 | — | — | [ ,
0.0 % Male samples |
Mean (Cases) = 68.8 years Sd (Cases) = 9.7 years |
European | — | 14 cohorts
|
— |
| PSS000261 | — | — | [ ,
100.0 % Male samples |
Mean (Cases) = 67.8 years Sd (Cases) = 9.7 years |
European | — | 14 cohorts
|
— |
| PSS000262 | Excluding participants with prevalent cancer at recruitment colorectal cancer was defined as ICD codes: C18 (except C18.1, Appendix), C19 and C20 | — | [ ,
45.0 % Male samples |
Mean = 57.0 years IQR = [50.0, 63.0] years |
European | — | UKB | Follow-up time = 1,751,445 person years |
| PSS000263 | Excluding participants with prevalent cancer at recruitment colorectal cancer was defined as ICD codes: C18 (except C18.1, Appendix), C19 and C20 | — | [ ,
46.0 % Male samples |
Mean = 57.0 years IQR = [50.0, 63.0] years |
European | — | UKB | Follow-up time = 1,388,191 person years |
| PSS007942 | — | — | 1,719 individuals | — | East Asian | China (East Asia) | UKB | — |
| PSS010134 | Colorectal cancer identified through self-report at UK Biobank study enrolment visit and ICD-9 (153, 154.0, 154.1) and ICD-10 (C18-C20) codes in linked cancer and death registries and hospital data. | — | [
|
— | Other, NR | Scottish UKB participants self-identifying as diverse ethnic groups other than "British", "Irish", "white" or "any other white background|" | UKB | Cohort for logistic regression model validation (minority ethnic population) |
| PSS010135 | Colorectal cancer identified through self-report at UK Biobank study enrolment visit and ICD-9 (153, 154.0, 154.1) and ICD-10 (C18-C20) codes in linked cancer and death registries and hospital data. | Median = 7.0 years | [
|
— | Other, NR | Scottish UKB participants self-identifying as diverse ethnic groups other than "British", "Irish", "white" or "any other white background|" | UKB | Cohort for cox regression model validation (minority ethnic population) |
| PSS010138 | — | — | 66,282 individuals, 42.3 % Male samples |
Median = 63.0 years | European | — | GERA | — |
| PSS010144 | — | — | [
|
— | European | — | UKB | — |
| PSS011364 | — | — | 56,192 individuals | — | European | — | UKB | — |
| PSS011366 | — | — | [ ,
44.0 % Male samples |
— | European (Finnish) |
— | FinnGen | — |
| PSS000268 | Unselected participants of the German screening colonoscopy program are recruited by gastroenterology practices in southern Germany in this multicenter study.Colonoscopy and histology reports are collected and information from these reports is extracted independently in a standardized way by two trained investigators, who are blinded with respect to questionnaire and genotype data and who resolve discrepancies by consensus after further review and discussion. Based on colonoscopy reports, participants are categorized with respect to the most advanced lesion: CRC, advanced adenoma (AA), non-advanced adenoma (NAA), hyperplastic polyp, or undefined polyp. Advanced adenomas are defined as adenomas ≥1 cm or adenomas with cellular or structural atypia. | — | [ ,
61.74 % Male samples |
Range = [50.0, 79.0] years | European | — | BLITZ | — |
| PSS000269 | Unselected participants of the German screening colonoscopy program are recruited by gastroenterology practices in southern Germany in this multicenter study.Colonoscopy and histology reports are collected and information from these reports is extracted independently in a standardized way by two trained investigators, who are blinded with respect to questionnaire and genotype data and who resolve discrepancies by consensus after further review and discussion. Based on colonoscopy reports, participants are categorized with respect to the most advanced lesion: CRC, advanced adenoma (AA), non-advanced adenoma (NAA), hyperplastic polyp, or undefined polyp. Advanced adenomas are defined as adenomas ≥1 cm or adenomas with cellular or structural atypia. | — | [ ,
60.48 % Male samples |
Range = [50.0, 79.0] years | European | — | BLITZ | — |
| PSS000271 | — | — | [ ,
40.85 % Male samples |
Mean (Cases) = 58.34 years Sd (Cases) = 12.85 years |
East Asian (Han Chinese) |
— | NCRCC | — |
| PSS011386 | — | — | 3,025 individuals | — | Not reported | — | BLITZ | — |
| PSS010988 | — | — | 470 individuals | Mean = 67.3 years | European | — | TCGA | — |
| PSS009046 | — | — | 3,922 individuals | — | European | Poland (NE Europe) | UKB | — |
| PSS011211 | Colorectal cancer cases were identified through the Finnish Cancer Registry with International Classification of Diseases for Oncology, 3rd Edition (ICD-O-3) codes C18-C20 and from the death registry with ICD-10 codes C18-C20, or ICD-9 codes of 153, 1540 and 154, or ICD-8 codes of 153, 1540 and 1541. | Median = 4.1 years | [ ,
43.9 % Male samples |
Mean = 52.9 years Sd = 18.0 years |
European (Finnish) |
— | FinnGen | — |
| PSS011399 | — | — | [
|
— | European | — | ICO, UKBonn | — |
| PSS000895 | Participants were 50 years of age or older with no family history of colorectal cancer. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection. | — | [
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Range = [50.0, 100.0] years | European | — | RPGEH | — |
| PSS000896 | Participants were under 50 years of age with no family history of colorectal cancer. Cases included individuals with colorectal cancer. For cases, reference age was defined as the age of diagnosis of first primary CRC. For controls, reference age was defined as the age at selection. | — | [
|
Range = [0.0, 50.0] years | European | — | RPGEH | — |
| PSS011409 | Cases were individuals with familial/early-onset mismatch repair (MMR)-proficient unrelated colorectal cancer (CRC). Cases fulfilled either the Amsterdam I/ Amsterdam II criteria or the Bethesda guidelines for hereditary nonpolyposis CRC. For the Amsterdam I criteria, individuals had to fulfil the following: have at least three relatives affected with CRC, have at least two successive generations are affected, have at least one person diagnosed before the age of 50 years, have familial adenomatous polyposis excluded and have tumors verified by pathologic examination. For the Amsterdam II criteria, individuals had to fulfil the following: have at least three relatives with an HNPCC-associated cancer (large bowel, endometrium, small bowel, ureter, or renal pelvis, though not including stomach, ovary, brain, bladder, or skin), have one affected person who is a first-degree relative of the other two, have at least two successive generations affected, have at least one person diagnosed before the age of 50 years, have familial adenomatous polyposis excluded and tumors verified by pathologic examination. For the Bethesda guidelines for hereditary nonpolyposis CRC criteria, inidividuals had to fulfil at least one of the following: CRC < age 50 years, synchronous or metachronous colorectal or other HNPCC-associated tumors regardless of age, CRC with microsatellite instability-positive morphology < age 60 years, CRC with one or more first-degree relatives with CRC or other HNPCC-related tumor, with one of the cancers < age 50 years or CRC with two or more first- or second-degree relatives with CRC or other hereditary nonpolyposis colon cancer-related tumor (endometrial, stomach, ovarian, cervical, esophageal, leukemia, thyroid, bladder, ureter and renal pelvis, biliary tract, small bowel, breast, pancreas, liver, larynx, bronchus, lung, and brain (glioblastoma), sebaceous gland adenomas, and keratoacanthomas), regardless of age. | — | [ ,
51.97 % Male samples |
— | European | — | CRCGEN | Cases were obtained from the Hereditary Cancer Program of the Catalan Institute of Oncology |
| PSS011410 | Cases were individuals with sporadic colorectal cancer (CRC). | — | [ ,
56.53 % Male samples |
— | European | — | CRCGEN | — |
| PSS007664 | Cases were individuals with (incident) invasive colorectal cancer diagnosed after a baseline assessment. Colorectal cancer was identified using linkedc cancer registry data using ICD-9 (1530–1539, 1540–1541), ICD-10 (C18–C20) codes or self-reported disease). | — | [ ,
45.85 % Male samples |
— | European | — | UKB | — |
| PSS000274 | Primary tumor samples from TCGA | — | [
|
Mean = 68.0 years Sd = 13.0 years |
European | — | TCGA | — |
| PSS000274 | — | — | [
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— | European | — | eMERGE | — |
| PSS008600 | — | — | 6,241 individuals | — | European | Italy (South Europe) | UKB | — |
| PSS011018 | — | — | [
|
— | European | — | UKB | — |
| PSS011018 | — | — | [
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— | Asian unspecified | — | UKB | — |
| PSS011018 | — | — | [
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— | African unspecified | — | UKB | — |
| PSS011018 | — | — | [
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— | Not reported | — | UKB | — |
| PSS011018 | — | — | [
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— | European, African American or Afro-Caribbean, African unspecified, Asian unspecified, NR | European and African Caribbean, European and Black African, European and Asian, NR | UKB | — |
| PSS011020 | ICD-10: C18.X or C20.X, D01.[0,1,2], D37.[4, 5] | — | [
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— | European, Not reported | — | UKB | — |
| PSS000981 | Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2. | — | [
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— | European | — | UKB | — |
| PSS000981 | Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2. | — | [
|
— | African unspecified | — | UKB | — |
| PSS000981 | Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2. | — | [
|
— | Asian unspecified | — | UKB | — |
| PSS000981 | Cases were individuals with colorectal cancer based on self-reporting at the baseline (Coding IDs: 10,221,023), primary cause of death (ICD-10) from the death registry (Coding IDsC180,C182,C183,C184,C185,C186,C187,C188,C189), secondary cause of death (ICD-10) from the death registry (Coding IDs: C180,C182,C183,C184,C185,C186,C187,C188,C189), type of cancer (ICD-10) from the cancer registry (Coding IDs: C18,C180,C181,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375, 153,154,1530,1531,1532,1533,1534,1535,1536,1537,1538,1539,1540,1541,1 548,2303,2304), primary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), primary diagnoses (ICD-9) from hopsitalization records (Coding IDs: 153,154,1530,1532,1533,1534,1536,1537,1539,1540,1541), secondary diagnoses (ICD-10) from hospitalization records (Coding IDs: C18,C180,C182,C183,C184,C185,C186,C187,C188,C189,C19,C20,D010,D011,D012,D374,D375), secondary diagnoses (ICD-9) from hospitialization records (Coding IDs: 153,153,154,1532,1533,1541). Of the total number of cases and controls, 76 were carriers of a pathogenic or likely pathogenic variant in any of the following genes: MLH1, MSH2, MSH6 and PMS2. | — | [
|
— | Not reported | — | UKB | — |
| PSS009566 | — | — | [
|
Maximum = 50.0 years | European | — | 9 cohorts
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CRCGEN, Kentucky, LCCS |
| PSS000113 | Cancer diagnoses were obtained from reigstry data in GERA, and ICD-9/10 codes mapped to ICD-O-3 codes in UK Biobank. Cancers for this phenotype were classified using the following SEER site recode(s): 21041 - 21049, 21051, 21052, and 21060 | — | [ ,
46.0 % Male samples |
Mean = 58.0 years | European | — | GERA, UKB | — |