To develop a clinicopathology-based model to predict BRCA1/2 pathogenic or likely pathogenic (P/LP) carrier status in high-risk breast cancer patients in China.
Key Findings:
BRCA1/2 P/LP variants were detected in 102 out of 1,204 patients (8.5%).
Strong associations were found between P/LP variants and triple-negative breast cancer (55.9%) and invasive ductal carcinoma (94.1%).
Older age was associated with a reduced risk of carrying P/LP variants.
The final model achieved an AUC of 0.758, indicating good discrimination.
Interpretation:
The developed model supports clinical implementation by extending testing beyond current guidelines and optimizing genetic resource use.
Limitations:
The study was conducted in a single center, which may limit generalizability.
Potential biases in data collection and patient selection may affect results.
Conclusion:
A clinicopathology-based model was successfully developed to predict BRCA1/2 P/LP carrier probability in a high-risk Chinese breast cancer cohort.
