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Term Description

The EGFR gene mutation c.2369C>T leads to a mutation that interferes with the treatment of patients with non-small cell lung cancer. The mutation is detected in the plasma as free floating cell-free DNA and is present in 50-60% of patients resistant to treatment with first and second generation tyrosine kinase inhibitors.

Part Description

LP95044-1   EGFR gene.c.2369C>T
Epidermal growth factor receptor (EGFR) is a protein that spans the cell membrane so is part outside of and part inside of the cell. The external portion of the EGFR is able to bind individually to at least seven different ligands.The EGFR-ligand complex then can bind to an adjacent receptor protein which then activates the EGFR-ligand complex and signals intercellular processes to promote cell growth, proliferation and survival. [MedlinePlus Gene: EGFR#normalfunction] The EGFR gene c.2369C>T mutation causes a substitution of threonine for methionine in the EGFR protein at position 790. https://targetedcancercare.massgeneral.org/My-Trial-Guide/Diseases/Colorectal-Cancer/EGFR/T790M-(c-2369C-T).aspx EGFR T790M mutation is present in 50-60% of patients resistant to the first and second generation of tyrosine kinase inhibitors (TK1) that are used heavily in patients with advanced non-small cell lung cancer (NSCLC). Once the EGFR T790M mutation is discovered the median survival of the patient is less than two years.https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830020/ Source: Regenstrief LOINC

LOINC Names Get Info

Fully-Specified Name
EGFR gene.c.2369C>T actual/normal:RelRto:Pt:Plas.cfDNA:Qn:Molgen
Long Common Name
EGFR gene c.2369C>T actual/normal in Plasma cell-free DNA by Molecular genetics method
Short Name
EGFR c.2369C>T Act/Nor Plas.cfDNA
Display Name
EGFR gene c.2369C>T actual/normal Molgen (cfDNA) [Relative ratio]
Consumer Name Alpha Get Info
EGFR gene c.2369C>T actual/normal

Part Model Get Info

  • Component
    EGFR gene.c.2369C>T actual/normal
    LP247696-0
    • Analyte
      EGFR gene.c.2369C>T actual/normal
      LP247696-0
      • Component Numerator
        EGFR gene.c.2369C>T actual/normal
        LP247696-0
        • Component Numerator Core
          EGFR gene.c.2369C>T
          LP95044-1
        • Component Numerator Core Suffix
          actual/normal
          LP29333-9
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    RelRto
    LP6854-6
  • Time
    Pt
    LP6960-1
  • System
    Plas.cfDNA
    LP185795-4
  • Scale
    Qn
    LP7753-9
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.61
Last Updated
Version 2.61 (ADD)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen EGFR.c.2369C>T skutečný/normální:Relativní poměr:Časový bod:DNA volná cirkulující (cfDNA):Kvantitativní:Molekulární genetika
el-GRGreek (Greece)Γονίδιο EGFR c.2369C>T πραγματικό/φυσιολογικό:RelRto:Pt:Πλάσμα.cfDNA:Qn:Μοριακή γενετική
Synonyms: C MOLPATH MOLPATH.MUT Pt Qn RelRto Γονίδιο Γονίδιο EGFR Γονίδιο EGFR c.2369C>T Μοριακή γενετική Πλάσμα Πλάσμα.cfDNA πραγματικό/φυσιολογικό
es-ESSpanish (Spain)Gen EGFR c.2369C>T actual/normal:Ratio relativo:Punto temporal:ADN en plasma libre de células:Qn:Genética molecular
Synonyms: Cuantitativo
es-MXSpanish (Mexico)Gen EGFR c.2369C> T real / normal:Razón relativa:Punto temporal:ADN libre de células plasmáticas:Cuantitativo:Genética molecular
fr-FRFrench (France)EGFR gène mutation c.2369C>T patient/témoin:Ratio relatif:Ponctuel:Plasma avec ADN libre circulant:Numérique:Biologie moléculaire
it-ITItalian (Italy)EGFR, gene.c.C2369T effettivo/normale:RelRto:Pt:Plasma.DNA libero circolante:Qn:Molgen
Synonyms: DNA libero circolante nel plasma Gene EGFR Gene EGFR c.2369C>T Genetica molecolare Mutazione genica Patologia molecolare Plasma Punto nel tempo (episodio) Rapporto Relativo
nl-NLDutch (Netherlands)EGFR-gen.c.2369C>T gemeten/normaal:relatieve verhouding:moment:plasma.celvrij DNA:kwantitatief:moleculair genetisch onderzoek
Synonyms: circulerend DNA EGFR gen EGFR gen.c.2369C>T gemeten/normaal molgen
pl-PLPolish (Poland)EGFR gen.c.2369C>T badane/prawidłowe:współczynnik względny:punkt w czasie:osocze.cfDNA:ilościowy:genetyka molekularna
Synonyms: diagnostyka molekularna Gen EGFR c.2369C>T (p.Thr790Met) Gen EGFR;Gen receptora naskórkowego czynnika wzrostu wolnokrążące DNA w osoczu
tr-TRTurkish (Turkey)EGFR geni.c.2369C>T gerçek/normal:GörOr:Zmlı:Plaz.cfDNA:Kant:Molgen
Synonyms: Plazma hücresiz DNA
zh-CNChinese (China)EGFR 基因.c.2369C>T 实际的/正常的:相对比率:时间点:血浆.cfDNA:定量型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 ERBB;ERBB1;V-ERB-B 禽类成红血细胞性白血病病毒性致癌基因同源基因;V-ERB-B 禽类成红血细胞性白血病病毒致癌基因同源基因;V-ERB-B 鸟类成红血细胞性白血病病毒性癌基因同源基因;V-ERB-B 鸟类成红血细胞性白血病病毒癌基因同源基因;癌基因 ERBB;致癌基因 ERBB;表皮生长因子受体基因 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 可用数量表示的;定量性;数值型;数量型;连续数值型标尺 实测值 实测值/正常值;实际/正常;实际值/正常值;实际测定值/正常值 实测的 实际值 对照 对照标准 对照物 对照的 时刻;随机;随意;瞬间 来自于不同体系的两种分析物之比;相对比;相对比值 正常的 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

Example Units

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