85383-8
EGFR gene c.2369C>T actual/normal in Plasma cell-free DNA by Molecular genetics method
Active
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.
Source: Regenstrief LOINC
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 actual/normal
- Property
- RelRto
- Time
- Pt
- System
- Plas.cfDNA
- Scale
- Qn
- Method
- Molgen
Additional Names
- 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
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.61
- Last Updated
- Version 2.61
- Order vs. Observation
- Both
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen EGFR c.2369C>T actual/normal: Synonyms: Cuantitativo |
| es-MX | Spanish (Mexico) | Gen EGFR c.2369C> T real / normal: |
| fr-FR | French (France) | EGFR gène mutation c.2369C>T patient/témoin: |
| it-IT | Italian (Italy) | EGFR, gene.c.C2369T effettivo/normale: Synonyms: DNA libero circolante nel plasma Gene EGFR Gene EGFR c.2369C> |
| nl-NL | Dutch (Netherlands) | EGFR-gen.c.2369C>T gemeten/normaal: Synonyms: circulerend DNA EGFR gen EGFR gen.c.2369C> |
| tr-TR | Turkish (Turkey) | EGFR geni.c.2369C>T gerçek/normal: Synonyms: Plazma hücresiz DNA |
| zh-CN | Chinese (China) | EGFR 基因.c.2369C>T 实际的/正常的: Synonyms: C 型; |
Example Units
| Unit | Source |
|---|---|
| % | Example UCUM Units |
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