Parameter
| Biomarker | BRCA1/2 | Full name | Breast cancer susceptibility gene 1/2 | Molecular Type | Nucleic acid（DNA） |
|---|---|---|---|---|---|
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease | Breast Cancer | Disease Subtypes | / | ||
| Organ | Breast | Test Sample / Technology Platform | All subtypes | ||
| Pathobiological Mechanisms | BRCA1/2 are key genes involved in DNA double-strand break repair. Mutations in these genes lead to defects in DNA repair function, making tumors sensitive to DNA-damaging drugs (such as platinum compounds, PARP inhibitors). | ||||
| Clinical Availability Status | Clinical application (risk assessment + treatment guidance): Germline mutation testing is used for genetic risk assessment; somatic mutations guide PARP inhibitor therapy. | ||||
| Notes and Dynamics | PARP inhibitors (such as olaparib, talazoparib) have been approved for the treatment of advanced triple-negative breast cancer with BRCA1/2 mutations; liquid biopsy (ctDNA) can dynamically monitor the status of BRCA1/2 mutations. | ||||