Germline missense variants in the BTNL2 gene are associated with prostate cancer susceptibility.

ABSTRACT:

Background

Rare, inherited mutations account for 5% to 10% of all prostate cancer cases. However, to date, few causative mutations have been identified.

Methods

To identify rare mutations for prostate cancer, we conducted whole-exome sequencing (WES) in multiple kindreds (n = 91) from 19 hereditary prostate cancer (HPC) families characterized by aggressive or early-onset phenotypes. Candidate variants (n = 130) identified through family- and bioinformatics-based filtering of WES data were then genotyped in an independent set of 270 HPC families (n = 819 prostate cancer cases; n = 496 unaffected relatives) for replication. Two variants with supportive evidence were subsequently genotyped in a population-based case-control study (n = 1,155 incident prostate cancer cases; n = 1

SUBMITTER: Fitzgerald LM 

PROVIDER: S-EPMC3769499 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature