LP266807-9
BRAF gene.p.Val600 mutations
Active
Description
The BRAF gene (B-Raf proto-oncogene, serine/threonine kinase) [HGNC Gene ID:1097] is located on chromosome 7q34. This gene encodes a protein involved in the regulation of the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion.[NCBI Gene ID:673] Mutations in this gene are associated with various cancers, including melanoma, colorectal cancer, ovarian cancer, non-small cell lung carcinoma, and adenocarcinoma of lung. The two most prominent BRAF mutations are V600E (Val600Glu, c.1799T>A) and V600K (Val600Lys, c.1798_1799delGTinsAA), which result in increased kinase activity. Patients whose tumors contained the V600E mutation respond well to BRAF inhibitors (e.g. dabrafenib). PMID: 22608338 Both V600E or V600K mutations have increased sensitivity to MEK inhibitors (e.g. trametinib). PMID: 22663011 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- BRAF gene V600 mutations
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2018-04-11
- Construct for LOINC Short Name
- BRAF p.V600 mutations
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- CodeSystem lookup
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BRAF 基因.p.Val600 突变 |
| it-IT | Italian (Italy) | BRAF, mutazioni gene.p.Val600 Synonyms: Mutazioni gene BRAF p.Val600 |
| es-ES | Spanish (Spain) | Mutación V600 en el gen BRAF |
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