Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

ABSTRACT:

Background

Prostate cancer (PrCa) is one of the most common diseases to affect men worldwide and among the leading causes of cancer-related death. The purpose of this study was to use second-generation sequencing technology to assess the frequency of deleterious mutations in 22 tumour suppressor genes in familial PrCa and estimate the relative risk of PrCa if these genes are mutated.

Methods

Germline DNA samples from 191 men with 3 or more cases of PrCa in their family were sequenced for 22 tumour suppressor genes using Agilent target enrichment and Illumina technology. Analysis for genetic variation was carried out by using a pipeline consisting of BWA, Genome Analysis Toolkit (GATK) and ANNOVAR. Clinical features were correlated with mutation status using standard statisti

SUBMITTER: Leongamornlert D 

PROVIDER: S-EPMC3960610 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature