Germline <i>BARD1</i> Mutation in High-Risk Chinese Breast and Ovarian Cancer Patients.

ABSTRACT:

Background

The prevalence of BARD1 mutations in breast and ovarian cancers varies across different ethnic groups. Evaluating the cancer risk and clinical significance of BARD1 mutations in the local Chinese patients with breast cancer, ovarian cancer, or both is clinically important for designing an appropriate surveillance scheme.

Methods

This study used a 30 gene panel to identify BARD1 germline mutations in 2658 breast and ovarian cancer patients.

Results

Among this cohort, the BARD1 mutation prevalence was 0.45% for breast cancer and 0.29% for ovarian cancer. In our 12 mutation carriers, we identified eight types of mutation variants, including three novel mutations. BARD1 mutation carriers were more likely to have a family histo

SUBMITTER: Kwong A 

PROVIDER: S-EPMC12346768 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature