Genome sequencing enhances the diagnostic yield and expands the genetic landscape of male breast cancer.

ABSTRACT:

Purpose

To understand the broader genetic landscape of male breast cancer (MBC), focusing on the utility of genome sequencing (GS) beyond BRCA1/2 (HGNC: 1100, 1101) variants.

Methods

Twenty-four patients with MBC underwent a multistep genetic analysis. Initial screening targeted BRCA1/2 variants followed by GS to identify pathogenic/likely pathogenic germline variants through a 3-tiered classification. Polygenic risk score analysis was further incorporated using a model for female breast cancer with 2666 noncancer controls. Exome sequencing was used to transition from germline to somatic investigations, assessing second-hit variant and mutational signatures.

Results

The GS analysis unveiled previously unrecognized pathogenic/likely pathogenic germline va

SUBMITTER: Wen W 

PROVIDER: S-EPMC11840214 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature