| 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. |
| 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) |
|---|---|---|---|---|---|---|
| PGS000734 (PRS95_CRC) |
PGP000142 | Archambault AN et al. Gastroenterology (2019) |
Colorectal cancer | colorectal cancer | 95 | https://ftp.ebi.ac.uk/pub/databases/spot/pgs/scores/PGS000734/ScoringFiles/PGS000734.txt.gz |
|
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 |
|---|---|---|---|---|---|---|---|---|---|
| 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 | — |
| 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 | — |
|
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. | — | [
|
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. | — | [
|
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. | — | [
|
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. | — | [
|
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. | — | [
|
Range = [50.0, 100.0] years | European | — | RPGEH | — |