Clinical Scorecard: Identifying Clinical Indicators of BRCA1/2 Pathogenic Variants in High-Risk Breast Cancer Patients in China: A Study on HBRCA Risk Assessment
At a Glance
Category
Detail
Condition
BRCA1/2 pathogenic or likely pathogenic variants in breast cancer
Key Mechanisms
Germline variant identification guiding surgical and systemic therapy
Target Population
High-risk breast cancer patients in China
Care Setting
Zhejiang Cancer Hospital, eastern China
Key Highlights
BRCA1/2 P/LP variants detected in 8.5% of high-risk patients
Strong association with triple-negative breast cancer (TNBC) and invasive ductal carcinoma (IDC)
Model achieved AUC of 0.758 and low Brier score of 0.071
Decision Curve Analysis showed net clinical benefit over test-all and test-none strategies
Model incorporates histology, molecular subtype, age, and family history
Guideline-Based Recommendations
Diagnosis
Offer BRCA1/2 testing to all newly diagnosed patients ≤65 years
Testing for selected patients >65 years based on personal/family history
Management
Use of PARP inhibitors in BRCA1/2 carriers across disease stages
Monitoring & Follow-up
Internal validation of predictive models with bootstrap resampling
Risks
Underutilization of germline testing in eligible patients
Patient & Prescribing Data
High-risk breast cancer patients diagnosed from 2017 to 2021
Olaparib shows clinically meaningful benefits in BRCA1/2 carriers
Clinical Best Practices
Develop population-specific and pathology-informed models for risk prediction
Incorporate clinicopathological characteristics in genetic counseling
