LP99239-3
BRAF gene.p.Val600Glu
Active
Description
The BRAF gene (B-Raf proto-oncogene, serine/threonine kinase) [HGNC Gene ID:1097] Val600Glu mutation is the most common BRAF mutation detected in human cancer and causes a conformational change in the BRAF protein's G-loop activation segment that makes it constitutively active and resistant to negative feedback signals. The identification of this mutation and its effects have led to the creation of targeted therapeutics that inhibit BRAF activity and have been associated with short-term improvement, but long-term remission usually does not occur due to acquired resistance to BRAF inhibitors. However, the combination of BRAF inhibitors with other medications, such as mitogen-activated protein kinase pathway inhibitors, may improve outcomes. BRAF mutations have been associated with a range of cancers, including malignant melanoma, colorectal cancer (CRC), non-small-cell lung cancer (NSCLC), thyroid cancer, hairy cell leukemia (HCL), and multiple myeloma. PMID: 24955706 Source: Regenstrief LOINC, PMID: 24955706
Basic Part Properties
- Part Display Name
- BRAF gene p.Val600Glu
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2010-01-14
- Construct for LOINC Short Name
- BRAF p.V600E
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP99239-3
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BRAF 基因 p.V600E Synonyms: BRAF基因V600E; |
| et-EE | Estonian (Estonia) | BRAF geen.p.V600E |
| es-ES | Spanish (Spain) | Gen BRAF p.V600E |
| it-IT | Italian (Italy) | BRAF, gene.p.Val600Glu Synonyms: Gene BRAF p.Val600Glu |
| tr-TR | Turkish (Turkey) | BRAF geni.p.V600E |
| ru-RU | Russian (Russian Federation) | BRAF ген.p.V600E |
| nl-NL | Dutch (Netherlands) | BRAF-gen.p.V600E Synonyms: BRAF gen.p.V600E |
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