Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.

ABSTRACT:

Objectives

To determine the frequency of pathogenic inherited mutations in 157 select genes from patients with metastatic castrate-resistant prostate cancer (mCRPC).

Design

Observational.

Setting

Multisite US-based cohort.

Participants

Seventy-one adult male patients with histological confirmation of prostate cancer, and had progressive disease while on androgen deprivation therapy.

Results

Twelve patients (17.4%) showed evidence of carrying pathogenic or likely pathogenic germline variants in the ATM, ATR, BRCA2, FANCL, MSR1, MUTYH, RB1, TSHR and WRN genes. All but one patient opted in to receive clinically actionable results at the time of study initiation. We also found that pathogenic germline BRCA2 variants appear to be enriched in mCRPC compared to

SUBMITTER: Hart SN 

PROVIDER: S-EPMC4838679 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature