Predisposition gene identification in common cancers by exome sequencing: insights from familial breast cancer.

ABSTRACT: The genetic component of breast cancer predisposition remains largely unexplained. Candidate gene case-control resequencing has identified predisposition genes characterised by rare, protein truncating mutations that confer moderate risks of disease. In theory, exome sequencing should yield additional genes of this class. Here, we explore the feasibility and design considerations of this approach. We performed exome sequencing in 50 individuals with familial breast cancer, applying frequency and protein function filters to identify variants most likely to be pathogenic. We identified 867,378 variants that passed the call quality filters of which 1,296 variants passed the frequency and protein truncation filters. The median number of validated, rare, protein truncating variants was 10 in in

SUBMITTER: Snape K 

PROVIDER: S-EPMC3781770 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature