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)

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:
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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

PGS Developed By This Publication

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)
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

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
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 —

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
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