Germline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.

ABSTRACT:

Purpose

To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.

Methods

This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.

Results

We identified 36 women who underwent multigene panel testing: 8 (22.2%) had a pathogenic variant, with or without other variants of uncertain significance (VUSs); 15 (41.7%) had VUSs only; and 13 (36.1%) had negative genetic test results. Of the eight pathogenic variants, five were BRCA2 variants and one each were BRCA1, MLH1, and RINT1 variants. The VUSs included BRCA1

SUBMITTER: Togashi Y 

PROVIDER: S-EPMC12339588 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature