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 | Ovarian Cancer | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Whole blood / Peripheral blood mononuclear cells (NGS, Sanger sequencing, MLPA) | ||
| Pathobiological Mechanisms | Participating in the homologous recombination repair (HR) pathway, mutations lead to genomic instability (HRD), increasing the risk of ovarian cancer, and are sensitive to PARP inhibitors. | ||||
| Clinical Availability Status | Clinically applicable (routine genetic testing): Included as a mandatory test for newly diagnosed ovarian cancer patients, serving as a companion diagnostic for PARP inhibitors. | ||||
| Notes and Dynamics | HRD positive patients who received maintenance treatment with PARP inhibitors showed a significant prolongation in progression-free survival; it is a core biomarker for genetic counseling and family risk screening. | ||||