Version 2.78

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

Fully-Specified Name

Component
EGFR gene.c.2369C>T
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
EGFR c.2369C>T Bld/T Ql
Display Name
EGFR gene c.2369C>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
EGFR gene c.2369C>T, Blood or tissue specimen

Example Answer List: LL759-2

Source: Regenstrief Institute
Answer Code Score Answer ID
NegativeCopyright http://snomed.info/sct ID:260385009 Negative (qualifier value) LA6577-6
PositiveCopyright http://snomed.info/sct ID:10828004 Positive (qualifier value) LA6576-8
IndeterminateCopyright http://snomed.info/sct ID:82334004 Indeterminate (qualifier value) LA11884-6

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.29
Last Updated
Version 2.56
Change Reason
Changed Component part from p.C2369T to c.2369C>Tsince this variant is at the coding level (vs. protein level) and to model HGVS gene nomenclature guidelines.; 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

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen EGFR c.2369C>T:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen EGFR c.2369C> T:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) EGFR gène mutation c.2369C>T:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) EGFR, gene.c.C2369T:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene EGFR Gene EGFR c.2369C>T Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) EGFR-gen.c.2369C>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: EGFR gen EGFR gen.c.2369C>T molgen
pt-BR Portuguese (Brazil) EGFR gene.p.C2369T:#N/A:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; EGFR p.C2369T; V-ERB-B avian erythroblastic leukemia viral oncogene homolog; Oncogene ERBB; Epidermal growth factor receptor gene; ERBB1; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) EGFR ген.c.2369C>T:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) EGFR geni.c.2369C>T:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) EGFR 基因.c.2369C>T:存在情况或阈值:时间点:全血/组织:序数型: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 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 全血或组织;血液/组织;血液或组织 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 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=55769-4