Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

ABSTRACT:

Purpose

Genetic predisposition to male breast cancer (MBC) is not well understood. The aim of this study was to better define the predisposition genes contributing to MBC and the utility of germline multi-gene panel testing (MGPT) for explaining the etiology of MBCs.

Methods

Clinical histories and molecular results were retrospectively reviewed for 715 MBC patients who underwent MGPT from March 2012 to June 2016.

Results

The detection rate of MGPT was 18.1% for patients tested for variants in 16 breast cancer susceptibility genes and with no prior BRCA1/2 testing. BRCA2 and CHEK2 were the most frequently mutated genes (11.0 and 4.1% of patients with no prior BRCA1/2 testing, respectively). Pathogenic variants in BRCA2 [odds ratio (OR) = 13.9; p = 1.92 × 10^-16

SUBMITTER: Pritzlaff M 

PROVIDER: S-EPMC5241330 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature