PGS Publication: PGP000069

Publication Information (EuropePMC)
Title A model to determine colorectal cancer risk using common genetic susceptibility loci.
PubMed ID 25683114(Europe PMC)
doi 10.1053/j.gastro.2015.02.010
Publication Date Feb. 13, 2015
Journal Gastroenterology
Author(s) Hsu L, Jeon J, Brenner H, Gruber SB, Schoen RE, Berndt SI, Chan AT, Chang-Claude J, Du M, Gong J, Harrison TA, Hayes RB, Hoffmeister M, Hutter CM, Lin Y, Nishihara R, Ogino S, Prentice RL, Schumacher FR, Seminara D, Slattery ML, Thomas DC, Thornquist M, Newcomb PA, Potter JD, Zheng Y, White E, Peters U, Colorectal Transdisciplinary (CORECT) Study, Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO).
Released in PGS Catalog: April 29, 2020

Associated Polygenic Score(s)

PGS Developed By This Publication

Polygenic Score (PGS) ID PGS Name PGS Publication (PGP) ID Reported Trait Mapped Trait(s) (Ontology) Number of Variants PGS Scoring File (FTP Link)
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

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 ID) 		Evaluated Score PGS Sample Set ID
(PSS ID) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		PGS Classification Metrics Other Metrics Covariates Included in the Model PGS Performance: Other Relevant Information
PPM000439 PGS000146
(CRC_GRS_27)
 PSS000252 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 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 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 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 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 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 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 PGP000069
Hsu L et al. Gastroenterology (2015)
 Reported Trait: Rectal cancer OR: 1.06 [1.03, 1.09] — — Study, age, endoscopy, family history —

Evaluated Samples

PGS Sample Set ID
(PSS ID) 		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
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