Ontology highlight
ABSTRACT:
SUBMITTER: Snape K
PROVIDER: S-EPMC3781770 | biostudies-literature | 2012 Jul
REPOSITORIES: biostudies-literature
Snape Katie K Ruark Elise E Tarpey Patrick P Renwick Anthony A Turnbull Clare C Seal Sheila S Murray Anne A Hanks Sandra S Douglas Jenny J Stratton Michael R MR Rahman Nazneen N
Breast cancer research and treatment 20120418 1
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 ...[more]