Prevalence of BRCA1 and BRCA2 Variants in an Unselected Population of Women With Breast Cancer.

ABSTRACT:

Importance

Barriers to germline testing make it difficult to determine the prevalence of pathogenic or likely pathogenic (P/LP) variants in BRCA1 and BRCA2 in underrepresented populations.

Objective

To determine P/LP variants in BRCA1 and BRCA2 in women with breast cancer enrolled in the Implementing Next-Generation Sequencing for Precision Intervention and Risk Evaluation (INSPIRE) study.

Design, setting, and participants

This cohort study included patients from City of Hope Duarte, California, and Upland, California, with a breast cancer diagnosis of any stage (0 to IV) from July 2020 to October 2023 who were enrolled in the INSPIRE biorepository study. Blood, buccal smears, or saliva were collected for germline testing of 155 genes. Data were analyzed from October

SUBMITTER: Mortimer JE 

PROVIDER: S-EPMC12439053 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature