PGS Publication: PGP000142

Publication Information (EuropePMC)
Title Cumulative Burden of Colorectal Cancer-Associated Genetic Variants Is More Strongly Associated With Early-Onset vs Late-Onset Cancer.
PubMed ID 31866242(Europe PMC)
doi 10.1053/j.gastro.2019.12.012
Publication Date Dec. 19, 2019
Journal Gastroenterology
Author(s) Archambault AN, Su YR, Jeon J, Thomas M, Lin Y, Conti DV, Win AK, Sakoda LC, Lansdorp-Vogelaar I, Peterse EFP, Zauber AG, Duggan D, Holowatyj AN, Huyghe JR, Brenner H, Cotterchio M, Bézieau S, Schmit SL, Edlund CK, Southey MC, MacInnis RJ, Campbell PT, Chang-Claude J, Slattery ML, Chan AT, Joshi AD, Song M, Cao Y, Woods MO, White E, Weinstein SJ, Ulrich CM, Hoffmeister M, Bien SA, Harrison TA, Hampe J, Li CI, Schafmayer C, Offit K, Pharoah PD, Moreno V, Lindblom A, Wolk A, Wu AH, Li L, Gunter MJ, Gsur A, Keku TO, Pearlman R, Bishop DT, Castellví-Bel S, Moreira L, Vodicka P, Kampman E, Giles GG, Albanes D, Baron JA, Berndt SI, Brezina S, Buch S, Buchanan DD, Trichopoulou A, Severi G, Chirlaque MD, Sánchez MJ, Palli D, Kühn T, Murphy N, Cross AJ, Burnett-Hartman AN, Chanock SJ, de la Chapelle A, Easton DF, Elliott F, English DR, Feskens EJM, FitzGerald LM, Goodman PJ, Hopper JL, Hudson TJ, Hunter DJ, Jacobs EJ, Joshu CE, Küry S, Markowitz SD, Milne RL, Platz EA, Rennert G, Rennert HS, Schumacher FR, Sandler RS, Seminara D, Tangen CM, Thibodeau SN, Toland AE, van Duijnhoven FJB, Visvanathan K, Vodickova L, Potter JD, Männistö S, Weigl K, Figueiredo J, Martín V, Larsson SC, Parfrey PS, Huang WY, Lenz HJ, Castelao JE, Gago-Dominguez M, Muñoz-Garzón V, Mancao C, Haiman CA, Wilkens LR, Siegel E, Barry E, Younghusband B, Van Guelpen B, Harlid S, Zeleniuch-Jacquotte A, Liang PS, Du M, Casey G, Lindor NM, Le Marchand L, Gallinger SJ, Jenkins MA, Newcomb PA, Gruber SB, Schoen RE, Hampel H, Corley DA, Hsu L, Peters U, Hayes RB.
Released in PGS Catalog: Feb. 23, 2021

Associated Polygenic Score(s)

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Individuals included in:
G - Source of Variant Associations (GWAS)
D - Score Development/Training
E - PGS Evaluation
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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 PGS Scoring File (FTP Link)
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

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
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

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
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
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