Hereditary syndromes and molecular oncology pathways
Interactive Mendelian transmission modeling matched to FDA/EMA targeted therapeutics and surveillance protocols.
| Biomarker Mutation | Associated Neoplasm | First-Line Targeted Agent | Resistance Mechanism |
|---|---|---|---|
| BRCA1 / BRCA2 | Hereditary Breast & Ovarian Cancer | Olaparib (PARP Inhibitor) | Reversion mutations restoring homologous recombination |
| EGFR Exon 19 del / L858R | Non-Small Cell Lung Cancer (NSCLC) | Osimertinib (3rd-gen TKI) | C797S mutation in kinase domain / MET amplification |
| HER2 (ERBB2) Amplification | Breast & Gastric Adenocarcinoma | Trastuzumab + Pertuzumab | Upregulation of downstream PI3K/AKT pathway |
Mismatch repair gene mutations (MLH1, MSH2, MSH6, PMS2) and surveillance
Tumors display microsatellite instability (MSI-H) and respond dramatically to immune checkpoint inhibitors (anti-PD-1).
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