Trait: colonic neoplasm

Trait Information
Identifier MONDO_0005401
Description A benign or malignant neoplasm that affects the colon. Representative examples of benign neoplasms include lipoma and leiomyoma. Representative examples of malignant neoplasms include carcinoma, lymphoma, and sarcoma. Colonic adenomas always exhibit epithelial dysplasia and are considered premalignant neoplasms. [NCIT: C2953]
Trait category
Other trait
Synonyms 13 synonyms
  • colon neoplasm
  • colon neoplasm (disease)
  • colon tumor
  • colon tumour
  • colonic neoplasm
  • colonic tumor
  • colonic tumour
  • neoplasm of colon
  • neoplasm of the colon
  • tumor of colon
  • tumor of the colon
  • tumour of colon
  • tumour of the colon
Child trait(s) 4 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 PGS for child terms of "colonic neoplasm" in the EFO hierarchy.
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)
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 rectosigmoid junction neoplasm,
rectal cancer		 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 rectosigmoid junction neoplasm,
rectal cancer		 1,104,018
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000384/ScoringFiles/PGS000384.txt.gz
PGS001811
(portability-PLR_208)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Benign neoplasm of colon benign colon neoplasm 2,231
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS001811/ScoringFiles/PGS001811.txt.gz
PGS002019
(portability-ldpred2_208)
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Benign neoplasm of colon benign colon neoplasm 667,546
-
 https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS002019/ScoringFiles/PGS002019.txt.gz
PGS018490
(TPMI_153.2_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 13,140
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018490/ScoringFiles/PGS018490.txt.gz
PGS018491
(TPMI_153.2_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 939,847
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018491/ScoringFiles/PGS018491.txt.gz
PGS018492
(TPMI_153.2_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 32,744
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018492/ScoringFiles/PGS018492.txt.gz
PGS018493
(TPMI_153.2_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 983,802
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018493/ScoringFiles/PGS018493.txt.gz
PGS018494
(TPMI_153.2_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Colon cancer malignant colon neoplasm 996,354
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018494/ScoringFiles/PGS018494.txt.gz
PGS018495
(TPMI_153.3_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 133,830
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018495/ScoringFiles/PGS018495.txt.gz
PGS018496
(TPMI_153.3_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 939,895
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018496/ScoringFiles/PGS018496.txt.gz
PGS018497
(TPMI_153.3_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 21,604
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018497/ScoringFiles/PGS018497.txt.gz
PGS018498
(TPMI_153.3_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 983,831
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018498/ScoringFiles/PGS018498.txt.gz
PGS018499
(TPMI_153.3_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Malignant neoplasm of rectum rectosigmoid junction and anus rectosigmoid junction neoplasm 1,000,378
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018499/ScoringFiles/PGS018499.txt.gz
PGS018610
(TPMI_208_Lassosum2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 1,006
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018610/ScoringFiles/PGS018610.txt.gz
PGS018611
(TPMI_208_LDpred2)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 939,899
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018611/ScoringFiles/PGS018611.txt.gz
PGS018612
(TPMI_208_MegaPRS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 474,603
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018612/ScoringFiles/PGS018612.txt.gz
PGS018613
(TPMI_208_PRS-CS)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 983,832
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018613/ScoringFiles/PGS018613.txt.gz
PGS018614
(TPMI_208_SBayesR)
 PGP000835 |
Chen HH et al. Nature (2025)
 Benign neoplasm of colon benign colon neoplasm 933,825
https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS018614/ScoringFiles/PGS018614.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
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
PPM009388 PGS001811
(portability-PLR_208)
 PSS009281|
European Ancestry|
19,812 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0643 [0.0504, 0.0782] sex, age, birth date, deprivation index, 16 PCs —
PPM009389 PGS001811
(portability-PLR_208)
 PSS009055|
European Ancestry|
4,121 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0651 [0.0345, 0.0955] sex, age, birth date, deprivation index, 16 PCs —
PPM009390 PGS001811
(portability-PLR_208)
 PSS008609|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0584 [0.0343, 0.0824] sex, age, birth date, deprivation index, 16 PCs —
PPM009391 PGS001811
(portability-PLR_208)
 PSS008385|
Greater Middle Eastern Ancestry|
1,194 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0914 [0.0344, 0.1478] sex, age, birth date, deprivation index, 16 PCs —
PPM009392 PGS001811
(portability-PLR_208)
 PSS008163|
South Asian Ancestry|
6,307 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.023 [-0.0017, 0.0477] sex, age, birth date, deprivation index, 16 PCs —
PPM009393 PGS001811
(portability-PLR_208)
 PSS007950|
East Asian Ancestry|
1,800 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0293 [-0.0171, 0.0757] sex, age, birth date, deprivation index, 16 PCs —
PPM009394 PGS001811
(portability-PLR_208)
 PSS007731|
African Ancestry|
2,469 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0518 [0.0122, 0.0912] sex, age, birth date, deprivation index, 16 PCs —
PPM009395 PGS001811
(portability-PLR_208)
 PSS008834|
African Ancestry|
3,905 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0459 [0.0145, 0.0772] sex, age, birth date, deprivation index, 16 PCs —
PPM011026 PGS002019
(portability-ldpred2_208)
 PSS009281|
European Ancestry|
19,812 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0716 [0.0577, 0.0854] sex, age, birth date, deprivation index, 16 PCs —
PPM011027 PGS002019
(portability-ldpred2_208)
 PSS009055|
European Ancestry|
4,121 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0761 [0.0456, 0.1065] sex, age, birth date, deprivation index, 16 PCs —
PPM011028 PGS002019
(portability-ldpred2_208)
 PSS008609|
European Ancestry|
6,617 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0659 [0.0418, 0.0899] sex, age, birth date, deprivation index, 16 PCs —
PPM011029 PGS002019
(portability-ldpred2_208)
 PSS008385|
Greater Middle Eastern Ancestry|
1,194 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0966 [0.0396, 0.153] sex, age, birth date, deprivation index, 16 PCs —
PPM011030 PGS002019
(portability-ldpred2_208)
 PSS008163|
South Asian Ancestry|
6,307 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0398 [0.0151, 0.0645] sex, age, birth date, deprivation index, 16 PCs —
PPM011031 PGS002019
(portability-ldpred2_208)
 PSS007950|
East Asian Ancestry|
1,800 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0601 [0.0137, 0.1063] sex, age, birth date, deprivation index, 16 PCs —
PPM011032 PGS002019
(portability-ldpred2_208)
 PSS007731|
African Ancestry|
2,469 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0409 [0.0012, 0.0803] sex, age, birth date, deprivation index, 16 PCs —
PPM011033 PGS002019
(portability-ldpred2_208)
 PSS008834|
African Ancestry|
3,905 individuals
 PGP000263 |
Privé F et al. Am J Hum Genet (2022)
 Reported Trait: Benign neoplasm of colon — — Partial Correlation (partial-r): 0.0603 [0.0289, 0.0916] sex, age, birth date, deprivation index, 16 PCs —
PPM036672 PGS018490
(TPMI_153.2_Lassosum2)
 PSS012388|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.62822 R²: 0.0152 sex, age, array, PCs 1-10 —
PPM036673 PGS018491
(TPMI_153.2_LDpred2)
 PSS012387|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.63975 R²: 0.01799 sex, age, array, PCs 1-10 —
PPM036674 PGS018492
(TPMI_153.2_MegaPRS)
 PSS012389|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.62461 R²: 0.01543 sex, age, array, PCs 1-10 —
PPM036675 PGS018493
(TPMI_153.2_PRS-CS)
 PSS012390|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.63049 R²: 0.01696 sex, age, array, PCs 1-10 —
PPM036676 PGS018494
(TPMI_153.2_SBayesR)
 PSS012391|
East Asian Ancestry|
17,023 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Colon cancer — AUROC: 0.6282 R²: 0.0159 sex, age, array, PCs 1-10 —
PPM036677 PGS018495
(TPMI_153.3_Lassosum2)
 PSS012393|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64845 R²: 0.01445 sex, age, array, PCs 1-10 —
PPM036678 PGS018496
(TPMI_153.3_LDpred2)
 PSS012392|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64998 R²: 0.01477 sex, age, array, PCs 1-10 —
PPM036679 PGS018497
(TPMI_153.3_MegaPRS)
 PSS012394|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.6481 R²: 0.01452 sex, age, array, PCs 1-10 —
PPM036680 PGS018498
(TPMI_153.3_PRS-CS)
 PSS012395|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64899 R²: 0.01469 sex, age, array, PCs 1-10 —
PPM036681 PGS018499
(TPMI_153.3_SBayesR)
 PSS012396|
East Asian Ancestry|
16,918 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Malignant neoplasm of rectum rectosigmoid junction and anus — AUROC: 0.64811 R²: 0.01447 sex, age, array, PCs 1-10 —
PPM036792 PGS018610
(TPMI_208_Lassosum2)
 PSS012513|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.594 R²: 0.02719 sex, age, array, PCs 1-10 —
PPM036793 PGS018611
(TPMI_208_LDpred2)
 PSS012512|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.59584 R²: 0.02821 sex, age, array, PCs 1-10 —
PPM036794 PGS018612
(TPMI_208_MegaPRS)
 PSS012514|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.59631 R²: 0.02871 sex, age, array, PCs 1-10 —
PPM036795 PGS018613
(TPMI_208_PRS-CS)
 PSS012515|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.59443 R²: 0.02741 sex, age, array, PCs 1-10 —
PPM036796 PGS018614
(TPMI_208_SBayesR)
 PSS012516|
East Asian Ancestry|
18,707 individuals
 PGP000835 |
Chen HH et al. Nature (2025)
 Reported Trait: Benign neoplasm of colon — AUROC: 0.59494 R²: 0.02796 sex, age, array, PCs 1-10 —

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
PSS012515 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012516 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS009055 — — 4,121 individuals — European Poland (NE Europe) UKB —
PSS008163 — — 6,307 individuals — South Asian India (South Asia) UKB —
PSS009281 — — 19,812 individuals — European UK (+ Ireland) UKB —
PSS008834 — — 3,905 individuals — African unspecified Nigeria (West Africa) UKB —
PSS007950 — — 1,800 individuals — East Asian China (East Asia) UKB —
PSS008609 — — 6,617 individuals — European Italy (South Europe) UKB —
PSS012512 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012513 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012514 209.5, 211.3, 211.4, V12.72,D12, D3A, K63.5, Z86.010 —
[
  • 1,308 cases
  • , 17,399 controls
]
,
45.56 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012387 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012388 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012389 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012390 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012391 153, 159.0, 209.1, 230.3, V10.05,C18, C26.0, C7A.020, C7A.021, C7A.022, C7A.023, C7A.024, C7A.025, C7A.029, D01.0, Z85.03 —
[
  • 442 cases
  • , 16,581 controls
]
,
44.12 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012392 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,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, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012393 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,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, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012394 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,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, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS012395 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,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, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS007731 — — 2,469 individuals — African American or Afro-Caribbean Carribean 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 —
PSS012396 154, 209.17, 230.4, 230.5, 230.6, 796.7, V10.06,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, Z85.04 —
[
  • 337 cases
  • , 16,581 controls
]
,
44.24 % Male samples
 — East Asian
(Han Chinese)		 — TPMI —
PSS008385 — — 1,194 individuals — Greater Middle Eastern (Middle Eastern, North African or Persian) Iran (Middle East) UKB —