Trait: colorectal cancer

Experimental Factor Ontology (EFO) Information
Identifier EFO_0005842
Description A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma. [NCIT: C4978]
Trait category
Cancer
Digestive system disorder
Synonyms 27 synonyms
  • Cancer, Colorectal
  • Cancers, Colorectal
  • Colorectal Cancer
  • Colorectal Cancers
  • Malignant Colorectal Neoplasm
  • cancer of colorectum
  • cancer of large bowel
  • cancer of large intestine
  • cancer of the large bowel
  • colorectal cancer
  • colorectum cancer
  • malignant colorectal neoplasm
  • malignant colorectal tumor
  • malignant colorectum neoplasm
  • malignant large bowel neoplasm
  • malignant large bowel tumor
  • malignant large intestine neoplasm
  • malignant large intestine tumor
  • malignant neoplasm of colorectum
  • malignant neoplasm of large bowel
  • malignant neoplasm of large intestine
  • malignant neoplasm of the large bowel
  • malignant neoplasm of the large intestine
  • malignant tumor of large bowel
  • malignant tumor of large intestine
  • malignant tumor of the large bowel
  • malignant tumor of the large intestine
Mapped term(s) 14 mapped terms
  • DOID:5672
  • DOID:9256
  • ICD10:C18.9
  • KEGG:05210
  • MONDO:0005575
  • NCIT:C4978
  • NCIt:C4978
  • OMIM:114500
  • OMIM:608812
  • OMIM:612229
  • OMIM:612591
  • OMIM:615083
  • SCTID:363510005
  • UMLS:C1527249
Child trait(s) 2 child traits

Associated Polygenic Score(s)

Filter PGS by Participant Ancestry
Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
List of ancestries includes:
Display options:
Ancestry legend
Multi-ancestry (including European)
Multi-ancestry (excluding European)
African
East Asian
South Asian
Additional Asian Ancestries
European
Greater Middle Eastern
Hispanic or Latin American
Additional Diverse Ancestries
Not Reported
Note: This table shows all PGS for "colorectal cancer" and any child terms of this trait in the EFO hierarchy by default.
Polygenic Score ID & Name PGS Publication ID (PGP) Reported Trait Mapped Trait(s) (Ontology) Number of Variants Ancestry distribution PGS Scoring File (FTP Link)
PGS000055
(PRS_CRC)
PGP000040 |
Schmit SL et al. J Natl Cancer Inst (2019)
Colorectal cancer colorectal cancer 76
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000055/ScoringFiles/PGS000055.txt.gz
PGS000074
(CC_Colorectal)
PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre
Colorectal cancer colorectal cancer 103
-
http://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 risk colorectal cancer 27
-
http://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
-
http://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
http://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
-
-
http://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
-
http://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
-
-
http://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
-
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
http://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
-
http://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
http://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
-
http://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000765/ScoringFiles/PGS000765.txt.gz

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

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
PPM000194 PGS000074
(CC_Colorectal)
PSS000113|
European Ancestry|
416,249 individuals
PGP000050 |
Graff RE et al. bioRxiv (2020)
|Pre
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
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
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
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
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)
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
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)
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
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
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
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
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
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]
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]
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]
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]
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)

Evaluated Samples

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
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.
[
  • 294 cases
  • , 749 controls
]
,
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.
[
  • 249 cases
  • , 500 controls
]
,
60.48 % Male samples
Range = [50.0, 79.0] years European BLITZ
PSS000251 Colorectal adenocarcinoma located in the distal colon confirmed by medical records, pathology reports, or death certificate
[
  • 1,026 cases
  • , 3,860 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
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
[
  • 827 cases
  • , 2,442 controls
]
,
100.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
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
[
  • 1,670 cases
  • , 3,860 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
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
[
  • 850 cases
  • , 2,442 controls
]
,
100.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000255 Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or death certificate
[
  • 713 cases
  • , 3,860 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000256 Colorectal adenocarcinoma located in the rectum confirmed by medical records, pathology reports, or death certificate
[
  • 725 cases
  • , 2,442 controls
]
,
100.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000257 Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate
[
  • 380 cases
  • , 353 controls
]
,
0.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000258 Colorectal adenocarcinoma confirmed by medical records, pathology reports, or death certificate
[
  • 486 cases
  • , 516 controls
]
,
100.0 % Male samples
European 6 cohorts
  • DACHS
  • ,DALS
  • ,HPFS
  • ,NHS
  • ,VITAL
  • ,WHI
Training and test split not relevant to PGS
PSS000271
[
  • 1,316 cases
  • , 2,207 controls
]
,
40.85 % Male samples
Mean (Cases) = 58.34 years
Sd (Cases) = 12.85 years
East Asian
(Han Chinese)
NCRCC
PSS000259
[
  • 1,336 cases
  • , 2,744 controls
]
,
57.21 % Male samples
Range = [25.0, 90.0] years European
(Spanish)
MCC-Spain
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
[
  • 2,271 cases
  • , 22,725 controls
]
European UKB
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.
[
  • 202 cases
  • , 6,466 controls
]
Range = [50.0, 100.0] years European RPGEH
PSS000086
[
  • 8,580 cases
  • , 13,050 controls
]
East Asian 8 cohorts
  • COLON
  • ,CORSA
  • ,DACHS
  • ,EPIC
  • ,HPFS
  • ,MGI
  • ,NHS
  • ,UKB
PSS000087
[
  • 12,952 cases
  • , 48,383 controls
]
European 8 cohorts
  • COLON
  • ,CORSA
  • ,DACHS
  • ,EPIC
  • ,HPFS3
  • ,MGI
  • ,NHS3
  • ,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.
[
  • 1,068 cases
  • , 66,724 controls
]
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.
[
  • 25 cases
  • , 26,913 controls
]
Range = [0.0, 50.0] years European RPGEH
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.
[
  • 871 cases
  • , 60,258 controls
]
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.
[
  • 18 cases
  • , 24,454 controls
]
Range = [0.0, 50.0] years European RPGEH
PSS000260
[
  • 2,568 cases
  • , 2,932 controls
]
,
0.0 % Male samples
Mean (Cases) = 68.8 years
Sd (Cases) = 9.7 years
European 14 cohorts
  • CPSII
  • ,DACHS
  • ,DALS
  • ,HPFS
  • ,Hawaiian Colo2&3
  • ,KCCS
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,NFCCR
  • ,NHS
  • ,PLCO
  • ,VITAL
  • ,WHI
PSS000261
[
  • 2,307 cases
  • , 2,359 controls
]
,
100.0 % Male samples
Mean (Cases) = 67.8 years
Sd (Cases) = 9.7 years
European 14 cohorts
  • CPSII
  • ,DACHS
  • ,DALS
  • ,HPFS
  • ,Hawaiian Colo2&3
  • ,KCCS
  • ,MCCS
  • ,MEC
  • ,MECC
  • ,NFCCR
  • ,NHS
  • ,PLCO
  • ,VITAL
  • ,WHI
PSS000262 Excluding participants with prevalent cancer at recruitment colorectal cancer was defined as ICD codes: C18 (except C18.1, Appendix), C19 and C20
[
  • 1,623 cases
  • , 359,920 controls
]
,
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
[
  • 1,294 cases
  • , 285,583 controls
]
,
46.0 % Male samples
Mean = 57.0 years
Iqr = [50.0, 63.0] years
European UKB Follow-up time = 1,388,191 person years
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
[
  • 2,458 cases
  • , 398,354 controls
]
,
46.5 % Male samples
European UKB
PSS000274 Primary tumor samples from TCGA
[
  • 387 cases
  • , 0 controls
]
Mean = 68.0 years
Sd = 13.0 years
European TCGA
PSS000274
[
  • 0 cases
  • , 13,427 controls
]
European eMERGE
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.
[
  • 303 cases
  • , 45,233 controls
]
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.
[
  • 6 cases
  • , 993 controls
]
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.
[
  • 3 cases
  • , 1,216 controls
]
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.
[
  • 3 cases
  • , 1,050 controls
]
Not reported 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
[
  • 462 cases
  • , 4,569 controls
]
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
[
  • 325 cases
  • , 3,232 controls
]
European MGI
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
[
  • 607 cases
  • , 6,026 controls
]
European MGI
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
[
  • 5,895 cases
  • , 410,354 controls
]
,
46.0 % Male samples
Mean = 58.0 years European GERA, UKB