To delineate the landscape of BRCA1/2 variants in high-risk breast cancer patients in eastern China and provide evidence for risk-adapted clinical practice.
Approach:
Variant Interpretation: Clinical significance of variants was interpreted based on ClinVar annotations within the ACMG–AMP 2015 framework, with population frequency and in silico prediction results used as supporting evidence.
Key Findings:
9.8% of patients carried BRCA1/2 P/LP variants, with 5.5% carrying BRCA1 and 4.3% carrying BRCA2 variants.
P/LP carriers were more frequent in patients aged ≤45 years.
60 cases of BRCA1/2 P/LP variants were identified among 336 patients with triple-negative breast cancer.
A total of 124 cases were identified as carriers of 81 BRCA1/2 P/LP variants.
Interpretation:
This study provides a comprehensive characterization of the BRCA1/2 variant landscape in a high-risk Chinese breast cancer cohort.
Limitations:
The study is limited to a specific geographic region (eastern China) and may not represent the entire Chinese population, which could affect the generalizability of the findings.
BRCA1/2 testing is not covered by medical insurance in China, limiting accessibility for patients.
Conclusion:
The findings provide insights for refining genetic counseling, screening prioritization, and risk management in high-risk breast cancer patients in China.
