LP95044-1
EGFR gene.c.2369C>T
Active
Description
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
Basic Part Properties
- Part Display Name
- EGFR gene c.2369C>T
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2009-06-17
- Construct for LOINC Short Name
- EGFR c.2369C>T
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP95044-1 - ConceptMap translate
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//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP95044-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | EGFR 基因.c.2369C>T |
| et-EE | Estonian (Estonia) | EGFR geen.p.C2369T |
| es-ES | Spanish (Spain) | Gen EGFR c.2369C>T |
| it-IT | Italian (Italy) | EGFR, gene.c.C2369T Synonyms: Gene EGFR c.2369C>T |
| tr-TR | Turkish (Turkey) | EGFR geni.c.2369C>T |
| ru-RU | Russian (Russian Federation) | EGFR ген.c.2369C>T |
| nl-NL | Dutch (Netherlands) | EGFR-gen.c.2369C>T Synonyms: EGFR gen.c.2369C>T |
LOINC Copyright
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