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ð äžé éé»
- 22E: PARP inhibitor expansion, tumor agnostic targeted therapies, polygenic risk score
- Taiwan: å¥ä¿ BRCA testing for breast/ovarian, MSI testing for CRC
ð Pearls (10)
- PARP inhibitor: olaparib, talazoparib, niraparib, rucaparib for BRCA + HRD tumors
- Tumor agnostic: pembrolizumab MSI-H, dabrafenib BRAF V600E, larotrectinib NTRK fusion
- Comprehensive genomic profiling (CGP) standard for advanced
- Liquid biopsy ctDNA for resistance monitoring
- VUS (variant of uncertain significance) â caution in counseling
- PALB2 moderate breast cancer risk
- CHEK2 1100delC moderate breast risk
- Cascade family testing important
- Polygenic risk score (PRS) emerging for breast/CRC/prostate
- Mismatch repair deficiency in 15% of CRC, predicts immunotherapy
ð Taiwan
- å¥ä¿ BRCA1/2 panel for breast/ovarian (æ¢ä»¶)
- å¥ä¿ MSI/IHC for CRC
- å¥ä¿ EGFR/ALK/PD-L1 for lung
- HER2 for breast/gastric
- å家粟æºé«çèšç«
- å¥ä¿ CGP æ¢ä»¶çµŠä»
ð å
§å°éé»
- Hallmarks
- Oncogene/tumor suppressor
- Inherited syndromesïŒå¿
è spectrumïŒ
- PARP inhibitor + immunotherapy
- Tumor agnostic therapies (22E)
- Genetic counseling
â ïž AI èçš¿ã