Pathogenic Germline Variants in Patients With Metaplastic Breast Cancer.

ABSTRACT:

Importance

Metaplastic breast cancer (MpBC) is a rare, heterogeneous disease often associated with inferior outcomes. A growing body of literature describes the clinical and molecular features of MpBC, yet limited data describe the pathogenic germline variants (PGVs) in breast cancer susceptibility genes among affected individuals.

Objective

To examine the frequency and types of PGVs in breast cancer genes among patients with MpBC.

Design, setting, and participants

This is a descriptive retrospective cohort study of patients who received a diagnosis of MpBC at the University of Pennsylvania between January 2010 and May 2023. Electronic medical records were reviewed for demographic, clinicopathologic, and germline genetic testing information. Germline variant status wa

SUBMITTER: Demarest K 

PROVIDER: S-EPMC11836754 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature