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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.

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

LOINC Names Get Info

Fully-Specified Name
BRAF gene.p.Val600 mutations:Prid:Pt:Plas.cfDNA:Nom:Molgen
Long Common Name
BRAF gene V600 mutations [Identifier] in Plasma cell-free DNA by Molecular genetics method Nominal
Short Name
BRAF p.V600 Mut Plas.cfDNA
Display Name
BRAF gene V600 mutations found Molgen Nom (cfDNA)
Consumer Name Alpha Get Info
BRAF gene V600 Mutations

Part Model Get Info

  • Component
    BRAF gene.p.Val600 mutations
    LP266807-9
    • Analyte
      BRAF gene.p.Val600 mutations
      LP266807-9
      • Component Numerator
        BRAF gene.p.Val600 mutations
        LP266807-9
        • Component Numerator Core
          BRAF gene.p.Val600
          LP453368-5
        • Component Numerator Core Suffix
          mutations
          LP452208-4
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Plas.cfDNA
    LP185795-4
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Example Answer List: LL4972-7

Source: bioMerieux
AnswerCodeScoreAnswer ID
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value)LA6577-6
V600E mutationLA28872-2
V600K mutationLA28873-0
V600E and V600K mutationsLA28874-8
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 2.83 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen BRAF mutace V600:Přítomnost nebo identita:Časový bod:DNA volná cirkulující (cfDNA):Nominální:Molekulární genetika
el-GRGreek (Greece)Μεταλλάξεις p.Val600 γονιδίου BRAF:Prid:Pt:Πλάσμα.cfDNA:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom P Prid Pt Γονίδιο Γονίδιο BRAF Μεταλλάξεις Μεταλλάξεις p.Val600 γονιδίου BRAF Μοριακή γενετική Πλάσμα Πλάσμα.cfDNA
es-MXSpanish (Mexico)Mutaciones del gen BRAF p. Val600:Presencia o identidad:Punto temporal:ADN libre de células plasmáticas:Nominal:Genética molecular
es-ESSpanish (Spain)Mutación V600 en el gen BRAF:Presencia o identidad:Punto temporal:ADN en plasma libre de células:Nom:Genética molecular
fr-FRFrench (France)BRAF gène mutations p.Val600:Identification:Ponctuel:Plasma avec ADN libre circulant:Résultat nominal:Biologie moléculaire
it-ITItalian (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)
pl-PLPolish (Poland)BRAF gen.p.Val600 mutacje:obecność lub identyfikacja:punkt w czasie:osocze.cfDNA:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen BRAF Mutacje p.Val600 genu BRAF wolnokrążące DNA w osoczu wynik kategorialny
zh-CNChinese (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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=93690-6