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The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant
- Source :
- Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 9
- Publication Year :
- 2021
- Publisher :
- eScholarship, University of California, 2021.
-
Abstract
- PurposeTo evaluate the association between a previously published 313 variant-based breast cancer (BC) polygenic risk score (PRS313) and contralateral breast cancer (CBC) risk, in BRCA1 and BRCA2 pathogenic variant heterozygotes.MethodsWe included women of European ancestry with a prevalent first primary invasive BC (BRCA1 = 6,591 with 1,402 prevalent CBC cases; BRCA2 = 4,208 with 647 prevalent CBC cases) from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), a large international retrospective series. Cox regression analysis was performed to assess the association between overall and ER-specific PRS313 and CBC risk.ResultsFor BRCA1 heterozygotes the estrogen receptor (ER)-negative PRS313 showed the largest association with CBC risk, hazard ratio (HR) per SD = 1.12, 95% confidence interval (CI) (1.06-1.18), C-index = 0.53; for BRCA2 heterozygotes, this was the ER-positive PRS313, HR = 1.15, 95% CI (1.07-1.25), C-index = 0.57. Adjusting for family history, age at diagnosis, treatment, or pathological characteristics for the first BC did not change association effect sizes. For women developing first BC
- Subjects :
- Adult
Heterozygote
Aging
Clinical Sciences
Breast Neoplasms
GEMO Study Collaborators
KconFab Investigators
Risk Factors
Breast Cancer
Genetics
Humans
2.1 Biological and endogenous factors
Genetic Predisposition to Disease
Aetiology
skin and connective tissue diseases
EMBRACE Collaborators
HEBON Investigators
Retrospective Studies
Cancer
BRCA2 Protein
Genetics & Heredity
BRCA1 Protein
Prevention
Mutation
OCGN Investigators
Female
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics, vol 23, iss 9
- Accession number :
- edsair.dedup.wf.001..30da48d36b3803e9b3cbc98355d23b83