58415-1
BRAF gene p.Val600Glu [Presence] in Tissue by Molecular genetics method
Active
Part Description
LP99239-3 BRAF gene.p.Val600Glu
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
Fully-Specified Name
- Component
- BRAF gene.p.Val600Glu
- Property
- PrThr
- Time
- Pt
- System
- Tiss
- Scale
- Ord
- Method
- Molgen
Additional Names
- Short Name
- BRAF p.V600E Tiss Ql
- Display Name
- BRAF gene p.Val600Glu Molgen Ql (Tiss)
- Consumer Name Alpha Get Info
- BRAF gene p.Val600Glu, Tissue
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.30
- Last Updated
- Version 2.73
- Change Reason
- Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 9534
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| de-AT | German (Austria) | Synonyms: BRAF Val600Glu Mutationsanalyse |
| es-ES | Spanish (Spain) | Gen BRAF p.V600E: |
| es-MX | Spanish (Mexico) | BRAF gene.p.Val600Glu: |
| fr-FR | French (France) | BRAF gène p.Val600Glu: |
| it-IT | Italian (Italy) | BRAF, gene.p.Val600Glu: Synonyms: Gene BRAF Gene BRAF p.Val600Glu Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Tessuto & |
| nl-NL | Dutch (Netherlands) | BRAF-gen.p.V600E: Synonyms: BRAF gen BRAF gen.p.V600E molgen |
| pt-BR | Portuguese (Brazil) | BRAF gene.p.V600E: Synonyms: ; |
| ru-RU | Russian (Russian Federation) | BRAF ген.p.V600E: Synonyms: Порядковый Ткань и мазки Точка во времени; |
| tr-TR | Turkish (Turkey) | BRAF geni.p.V600E: Synonyms: Mevcut |
| zh-CN | Chinese (China) | BRAF 基因 p.V600E: Synonyms: B-Raf; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=58415-1
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright