Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

Volume: 1, Issue: 5, Pages: e182140 - e182140
Published: Sep 21, 2018
Abstract
Detection of disease-associated variants in the BRCA1 and BRCA2 (BRCA1/2) genes allows for cancer prevention and early diagnosis in high-risk individuals.To identify pathogenic and likely pathogenic (P/LP) BRCA1/2 variants in an unselected research cohort, and to characterize the features associated with P/LP variants.This is a cross-sectional study of adult volunteers (n = 50 726) who underwent exome sequencing at a single health care system...
Paper Details
Title
Exome Sequencing–Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants
Published Date
Sep 21, 2018
Volume
1
Issue
5
Pages
e182140 - e182140
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