Publication: Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers.

Information

PGS Catalog Publication (PGP) ID: PGP000033
PubMed ID: 28376175
doi: 10.1093/jnci/djw302

Publication Date: July 1, 2017

Journal: J Natl Cancer Inst

Authors: Kuchenbaecker KB, McGuffog L, Barrowdale D, Lee A, Soucy P, Dennis J, Domchek SM, Robson M, Spurdle AB, Ramus SJ, Mavaddat N, Terry MB, Neuhausen SL, Schmutzler RK, Simard J, Pharoah PDP, Offit K, Couch FJ, Chenevix-Trench G, Easton DF, Antoniou AC.

PGS Associated with PGP000033

PGS Developed By This Study

External PGS Evaluated By This Study

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
PPM000106 PGS000045 (BCPRS_Overall) PSS000070 Kuchenbaecker KB et al. (2017) Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.14 [1.11 - 1.17] C-index: 0.541 [0.53 - 0.551] Country, birth year
PPM000107 PGS000045 (BCPRS_Overall) PSS000071 Kuchenbaecker KB et al. (2017) Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.22 [1.17 - 1.28] C-index: 0.566 [0.551 - 0.581] Country, birth year
PPM000108 PGS000046 (BCPRS_ER+) PSS000070 Kuchenbaecker KB et al. (2017) Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.11 [1.08 - 1.15] C-index: 0.532 [0.522 - 0.543] Country, birth year
PPM000109 PGS000046 (BCPRS_ER+) PSS000071 Kuchenbaecker KB et al. (2017) Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.22 [1.16 - 1.27] C-index: 0.566 [0.551 - 0.581] Country, birth year
PPM000110 PGS000047 (BCPRS_ER-) PSS000070 Kuchenbaecker KB et al. (2017) Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.27 [1.23 - 1.31] C-index: 0.581 [0.571 - 0.592] Country, birth year
PPM000111 PGS000047 (BCPRS_ER-) PSS000071 Kuchenbaecker KB et al. (2017) Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.15 [1.1 - 1.2] C-index: 0.538 [0.523 - 0.553] Country, birth year
PPM000112 PGS000048 (OCPRS_Overall) PSS000072 Kuchenbaecker KB et al. (2017) Reported Trait: Ovarian cancer in BRCA1 mutation carriers HR: 1.28 [1.22 - 1.34] C-index: 0.579 [0.559 - 0.6] Country, birth year
PPM000113 PGS000048 (OCPRS_Overall) PSS000073 Kuchenbaecker KB et al. (2017) Reported Trait: Ovarian cancer in BRCA2 mutation carriers HR: 1.49 [1.34 - 1.65] C-index: 0.628 [0.592 - 0.665] Country, birth year
PPM000114 PGS000001 (PRS77_BC) PSS000070 Kuchenbaecker KB et al. (2017) Ext. Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.13 [1.1 - 1.16] Country, birth year
PPM000115 PGS000002 (PRS77_ERpos) PSS000070 Kuchenbaecker KB et al. (2017) Ext. Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.09 [1.06 - 1.12] Country, birth year
PPM000116 PGS000003 (PRS77_ERneg) PSS000070 Kuchenbaecker KB et al. (2017) Ext. Reported Trait: Breast cancer in BRCA1 mutation carriers HR: 1.24 [1.21 - 1.28] Country, birth year
PPM000117 PGS000001 (PRS77_BC) PSS000071 Kuchenbaecker KB et al. (2017) Ext. Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.22 [1.17 - 1.28] Country, birth year
PPM000118 PGS000002 (PRS77_ERpos) PSS000071 Kuchenbaecker KB et al. (2017) Ext. Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.22 [1.17 - 1.27] Country, birth year
PPM000119 PGS000003 (PRS77_ERneg) PSS000071 Kuchenbaecker KB et al. (2017) Ext. Reported Trait: Breast cancer in BRCA2 mutation carriers HR: 1.13 [1.08 - 1.18] Country, birth year

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
PSS000070 BRCA1 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. 15,252 individuals
[ 7,797 cases, 7,455 controls]
0.00 %% Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 40
PSS000071 BRCA2 mutation carriers were followed until breast or ovarian cancer diagnosis, bilateral prophylactic mastectomy, or age at last observation whichever occurred first. 8,211 individuals
[ 4,330 cases, 3,881 controls]
0.00 %% Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 43
PSS000072 BRCA1 mutation carriers were followed until the age of ovarian cancer diagnosis, age at risk-reducing salpingo-oophorectomy (RRSO) or age at last observation. Breast cancer diagnosis was not considered as a censoring event in the ovarian cancer analysis 15,252 individuals
[ 2,462 cases, 12,790 controls]
0.00 %% Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 50
PSS000073 BRCA2 mutation carriers were followed until the age of ovarian cancer diagnosis, age at risk-reducing salpingo-oophorectomy (RRSO) or age at last observation. Breast cancer diagnosis was not considered as a censoring event in the ovarian cancer analysis 8,211 individuals
[ 631 cases, 7,580 controls]
0.00 %% Male samples
European Some analyses accounted for samples part of the larger cohort with Ashkenazi Jewish ancestry CIMBA Median censoring age (cases) = 57