Version 2.78

Term Description

Detection of BRAF V600 variants, including V600E (Val600Glu, c.1799T>A) and V600K (Val600Lys, c.1798_1799delGTinsAA), in cell-free DNA. Using cell-free DNA is alternative to invasive tissue biopsies. The most prevalent mutations are V600E (70−90%) and V600K (5−30%); other mutations are rare. A positive result indicates the presence of an activating BRAF mutation and may be useful for guiding the treatment of individuals with melanoma.
Source: Regenstrief LOINC

Part Description

LP266807-9   BRAF gene.p.Val600 mutations
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

Fully-Specified Name

Component
BRAF gene.p.Val600 mutations
Property
Prid
Time
Pt
System
Plas.cfDNA
Scale
Nom
Method
Molgen

Additional Names

Short Name
BRAF p.V600 mutations Plas.cfDNA
Display Name
BRAF gene V600 mutations Molgen Nom (cfDNA)
Consumer Name Alpha Get Info
BRAF gene V600 Mutations

Example Answer List: LL4972-7

Source: bioMerieux
Answer Code Score Answer ID
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6
V600E mutation LA28872-2
V600K mutation LA28873-0
V600E and V600K mutations LA28874-8
InvalidCopyright http://snomed.info/sct ID:455371000124106 Invalid result (qualifier value) LA15841-2

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Mutación V600 en el gen BRAF:Presencia o identidad:Punto temporal:ADN en plasma libre de células:Nom:Genética molecular
es-MX Spanish (Mexico) Mutaciones del gen BRAF p. Val600:Presencia o identidad:Punto temporal:ADN libre de células plasmáticas:Nominal:Genética molecular
fr-FR French (France) BRAF gène mutations p.Val600:Identification:Ponctuel:Plasma avec ADN libre circulant:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) BRAF, mutazioni gene.p.Val600:Prid:Pt:Plasma.DNA libero circolante:Nom:Molgen
Synonyms: DNA libero circolante nel plasma Gene BRAF Genetica molecolare Mutazione genica Mutazioni gene BRAF p.Val600 Patologia molecolare Plasma Presenza o Identità Punto nel tempo (episodio)
zh-CN Chinese (China) BRAF 基因.p.Val600 突变:存在与否或特征标识:时间点:血浆.cfDNA:名义型:分子遗传学类实验室方法
Synonyms: B-Raf;原癌基因 B-Raf;proto-oncogene B-Raf;v-Raf murine sarcoma viral oncogene homolog B1;v-Raf 鼠科肉瘤病毒癌基因同源物 B1;v-Raf 小鼠肉瘤病毒癌基因同源物 B1;serine/threonine-protein kinase B-Raf;丝氨酸/苏氨酸蛋白激酶 B-Raf;丝氨酸-苏氨酸蛋白激酶 B-Raf;甲状腺癌;消化道肿瘤;皮肤黑色素瘤 P 型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 突变 突变类;基因突变 血浆循环 cfDNA;血浆循环 DNA;循环游离核酸;血浆游离 DNA;血浆无细胞 DNA;Free circulating/Cell-free DNA;Free circulating DNA 遗传基因;遗传因子;吉恩;生物基因

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