Clinical Report: Characterization of BRCA1/2 Variants in High-Risk Breast Cancer
Overview
This study characterizes the landscape of BRCA1/2 variants in 1,262 high-risk breast cancer patients from eastern China, identifying 124 carriers of pathogenic or likely pathogenic variants.
Background
Breast cancer is a significant health issue in China, with rising incidence and mortality rates. Identifying BRCA1/2 pathogenic variants is associated with an increased risk of breast and ovarian cancers.
Data Highlights
Variant Type
Frequency
BRCA1 P/LP variants
5.5%
BRCA2 P/LP variants
4.3%
Overall P/LP variant carriers
9.8%
BRCA1/2 P/LP variants in TNBC
60 cases
Key Findings
124 out of 1,262 patients were identified as carriers of BRCA1/2 P/LP variants.
9.8% of the cohort carried BRCA1/2 P/LP variants, with 5.5% being BRCA1 and 4.3% BRCA2.
Patients aged ≤45 years had a higher frequency of P/LP variants.
Among 336 patients with triple-negative breast cancer, 60 carried BRCA1/2 P/LP variants.
21 variants were observed in more than one participant, including a founder mutation in Chinese populations.
Clinical Implications
This study provides data for genetic counseling and testing strategies in high-risk breast cancer patients in China.
Conclusion
This characterization of BRCA1/2 variants in high-risk breast cancer patients in eastern China provides data for managing breast cancer risk.
