Trait: colorectal cancer

Information

Experimental Factor Ontology ID: EFO_0005842

EFO Trait Description: A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma. [NCIT: C4978]

Associated PGS

PGS 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 (PPM) ID Evaluated Score PGS Catalog Sample Set (PSS) ID Performance Source Trait PGS Effect Sizes
(per SD change)
PGS Classification Metrics Other Metrics Covariates Included in PGS Model PGS Performance: Other Relevant Information
PPM000139 PGS000055 (PRS_CRC) PSS000087 Schmit SL et al. (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 Schmit SL et al. (2019) Reported Trait: Colorectal cancer PRS percentile threshold for Odds Ratio > 2: 99.1 age, sex, PCs, PC*study

Evaluated Samples

PGS Catalog Sample Set (PSS) ID Detailed Phenotype Description (e.g. ICD/SNOMED codes used to identify cases) Sample Numbers Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS000086 21,630 individuals
[ 8,580 cases, 13,050 controls]
East Asian CORSA, COLON, DACHS, EPIC, HPFS, MGI, NHS, UKB
PSS000087 61,335 individuals
[ 12,952 cases, 48,383 controls]
European CORSA, COLON, EPIC, MGI, UKB, DACHS4, HPFS3, NHS3