Germline Mutations in DNA Repair Genes in Patients With Metastatic Castration-resistant Prostate Cancer.

ABSTRACT:

Background/aim

The aim of this study was to analyse the genetic profiles of metastatic castration-resistant prostate cancer (mCRPC) by using next generation sequencing to identify variants with pathogenic potential in nine DNA repair genes - BRCA1, BRCA2, RAD50, RAD51, RAD51C/D, ATM and ATR.

Materials and methods

Isolated genomic DNA from peripheral blood of 50 patients with mCRPC was used for the sequencing of 111 genes associated with hereditary cancer on an Illumina platform. Identified variants were tested in Integrative Genomic Viewer, their clinical significance confirmed in databases and their potential impact on protein function predicted by in silico tools.

Results

From nine analysed DNA repair genes, we identified 14 relevant variants; three pathogenic varia

SUBMITTER: Holeckova K 

PROVIDER: S-EPMC7439863 | biostudies-literature | 2020 Jul-Aug

REPOSITORIES: biostudies-literature