BRAF V600E mutation
Детермінований перегляд YAML-сутності з джерельної бази. Клінічний авторитет лишається за вказаними source ID та статусом клінічного sign-off.
| ID | BIO-BRAF-V600E |
|---|---|
| Тип | Біомаркер |
| Синоніми | BRAF V600EМутація BRAF V600E |
| Статус | переглянуто 2026-04-25 | очікує клінічного підпису |
| Хвороби | DIS-AML DIS-CHOLANGIOCARCINOMA DIS-CLL DIS-CRC DIS-DLBCL-NOS DIS-GBM DIS-HCC DIS-HCL DIS-MELANOMA DIS-MM DIS-NSCLC DIS-OVARIAN DIS-PDAC DIS-THYROID-ANAPLASTIC DIS-THYROID-PAPILLARY |
| Джерела | SRC-NCCN-BCELL-2025 |
Дані про біомаркер
| Тип біомаркера | gene_mutation |
|---|---|
| Деталі мутації | {"functional_impact": "activating", "gene": "BRAF", "hgvs_protein": "p.V600E", "variant_type": "missense"} |
| Вимірювання | MethodPCR / sequencing on bone marrow or peripheral blood (HCL); FFPE tumor (melanoma) Unitscategorical (positive | negative) |
| Пошук клінічної застосовності | {"gene": "BRAF", "variant": "V600E"} |
| Пов’язані біомаркери | Не вказано |
Нотатки
визначальна ознака HCL (~100%). таргетується BRAF інгібітори (вемурафеніб, дабрафеніб) — useful in рецидивний/рефрактерний HCL when кладрибін fails. Also relevant in меланома, some thyroid, colorectal cancers (відмінний терапевтичний context).
Де використовується
Algorithms
ALGO-HCL-2L- ALGO-HCL-2L
Diseases
DIS-CHOLANGIOCARCINOMA- Cholangiocarcinoma (bile duct cancer)DIS-THYROID-ANAPLASTIC- Anaplastic thyroid carcinoma (ATC)DIS-THYROID-PAPILLARY- Papillary thyroid carcinoma (PTC)
Handbook Chapters
HB-CRC-METASTATIC-1L- Metastatic colorectal cancer: first-line biomarker reasoningHB-MELANOMA-METASTATIC-1L- Metastatic melanoma: BRAF / IO first-line reasoningHB-NSCLC-METASTATIC-1L- Metastatic NSCLC: driver-first treatment reasoning
Handbook Questions
HQ-CRC-MET-1L-003- HQ-CRC-MET-1L-003HQ-MELANOMA-MET-1L-003- HQ-MELANOMA-MET-1L-003
Indications
IND-ATC-BRAF-V600E-DAB-TRAM- IND-ATC-BRAF-V600E-DAB-TRAMIND-CRC-3L-FRUQUINTINIB- IND-CRC-3L-FRUQUINTINIBIND-CRC-METASTATIC-1L-RAS-WT-LEFT- IND-CRC-METASTATIC-1L-RAS-WT-LEFTIND-CRC-METASTATIC-2L-BRAF-BEACON- IND-CRC-METASTATIC-2L-BRAF-BEACONIND-CRC-METASTATIC-2L-EGFRI-RECHALLENGE- IND-CRC-METASTATIC-2L-EGFRI-RECHALLENGEIND-CRC-METASTATIC-3L-RECHALLENGE-EGFRI- IND-CRC-METASTATIC-3L-RECHALLENGE-EGFRIIND-CRC-METASTATIC-3L-REGORAFENIB- IND-CRC-METASTATIC-3L-REGORAFENIBIND-CRC-METASTATIC-3L-TAS102-BEV- IND-CRC-METASTATIC-3L-TAS102-BEVIND-CRC-METASTATIC-3L-TRIFLURIDINE-TIPIRACIL-MONO- IND-CRC-METASTATIC-3L-TRIFLURIDINE-TIPIRACIL-MONOIND-MELANOMA-2L-POST-IO-BRAFI-MEKI- IND-MELANOMA-2L-POST-IO-BRAFI-MEKIIND-MELANOMA-BRAF-METASTATIC-1L-DABRA-TRAME- IND-MELANOMA-BRAF-METASTATIC-1L-DABRA-TRAMEIND-NSCLC-2L-BRAF-V600E-DAB-TRAM- IND-NSCLC-2L-BRAF-V600E-DAB-TRAMIND-NSCLC-2L-PD-L1-POST-IO-DOCETAXEL- IND-NSCLC-2L-PD-L1-POST-IO-DOCETAXELIND-NSCLC-BRAF-V600E-1L-DAB-TRAM- IND-NSCLC-BRAF-V600E-1L-DAB-TRAMIND-NSCLC-DRIVER-NEG-MET-1L-NIVO-IPI-CHEMO- IND-NSCLC-DRIVER-NEG-MET-1L-NIVO-IPI-CHEMO
Questionnaires
QUEST-CRC-1L-STUB- Colorectal carcinoma — first lineQUEST-MELANOMA-1L-STUB- Cutaneous melanoma — first lineQUEST-NSCLC-1L-STUB- Non-small cell lung cancer — first line
Tests
TEST-NSCLC-NGS-PANEL- NSCLC comprehensive NGS panel (DNA + RNA fusion)
Біомаркер
BIO-BRAF-CLASS-II-III- BRAF non-V600 mutation (Class II / Class III)BIO-BRAF-V600K- BRAF V600K mutationBIO-MAP2K1- MAP2K1 activating mutation (MEK1)BIO-NF1-MUTATION- NF1 loss-of-function mutationBIO-NRAS-Q61R- NRAS Q61R mutationBIO-RAS-MUTATION- RAS mutation status (KRAS / NRAS exons 2-4)BIO-TERT- TERT promoter mutation (C228T / C250T)
Клінічна застосовність
BMA-BRAF-CLASS3-NSCLC- Class 2 BRAF (e.g., K601E, L597, fusions) — RAS-independent, signal as dimers. Class 3 BR...BMA-BRAF-V600E-AML- BRAF V600E in AML is rare (<1%, more in histiocytic disorders / mixed-phenotype acute leu...BMA-BRAF-V600E-CHOLANGIO- BRAF V600E in cholangiocarcinoma (mainly intrahepatic, ~5%) is a tumor-agnostic FDA Level...BMA-BRAF-V600E-CLL- BRAF V600E in CLL is very rare (~1-3%); does not change standard management (BTKi or vene...BMA-BRAF-V600E-CRC- BRAF V600E in metastatic CRC: encorafenib + cetuximab (with or without binimetinib) impro...BMA-BRAF-V600E-DLBCL-NOS- BRAF V600E in DLBCL is exceptional. Tissue-agnostic dabrafenib + trametinib could be cons...BMA-BRAF-V600E-GBM- BRAF V600E in adult-type glioblastoma is rare (~1-3%) but more common in epithelioid GBM...BMA-BRAF-V600E-HCC- BRAF V600E in HCC is exceptional (<1%). Tissue-agnostic dabrafenib + trametinib could be...BMA-BRAF-V600E-HCL- BRAF V600E is the defining molecular lesion of classic hairy cell leukemia (~100% of cHCL...BMA-BRAF-V600E-MELANOMA- BRAF V600E (and V600K) in cutaneous melanoma is the prototypical driver: combination BRAF...BMA-BRAF-V600E-MM- BRAF V600E is found in ~4% of multiple myeloma at diagnosis (more in extramedullary / pla...BMA-BRAF-V600E-NSCLC- BRAF V600E in advanced NSCLC (≈1-2% of adenocarcinomas): dabrafenib + trametinib gives OR...BMA-BRAF-V600E-OVARIAN- BRAF V600E is a recurrent driver in low-grade serous ovarian carcinoma (LGSOC) — ~30% of...BMA-BRAF-V600E-PDAC- BRAF V600E in PDAC (~1-3%, often in KRAS-WT subset). Tissue- agnostic dabrafenib + tramet...BMA-BRAF-V600E-THYROID-ANAPLASTIC- BRAF V600E in anaplastic thyroid carcinoma (ATC, ~25-50% of cases): dabrafenib + trametin...BMA-BRAF-V600K-MELANOMA- BRAF V600K (~10-20% of BRAF-mutant melanomas) shares all BRAF/MEKi approvals with V600E....
Тривожна ознака
RF-CHOLANGIOCARCINOMA-HIGH-RISK-BIOLOGY- Actionable molecular alteration in cholangiocarcinoma — FGFR2 fusion / rearrangement, IDH...RF-MELANOMA-HIGH-RISK-BIOLOGY- BRAF V600E/K OR NRAS mutation — drives BRAFi+MEKi vs ICI doublet decision.RF-NSCLC-HIGH-RISK-BIOLOGY- Actionable molecular driver detected (EGFR / ALK / ROS1 / KRAS G12C / BRAF V600E / MET ex...RF-THYROID-ANAPLASTIC-HIGH-RISK-BIOLOGY- Anaplastic thyroid carcinoma with actionable driver mutation: BRAF V600E (~25-40% ATC; da...RF-THYROID-PAPILLARY-HIGH-RISK-BIOLOGY- Papillary thyroid carcinoma with adverse molecular / clinical features: BRAF V600E (~60%...