Epidermal Growth Factor Receptor - EGFR

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EPIDERMAL GROWTH FACTOR RECEPTOR - EGFR

Gene Symbol: EGFR

Chromosomal Locus: 7p11.2
 
Protein: epidermal growth factor receptor
 
Pseudonyms: ERBB1
 
TURNAROUND TIME: 10 days
  
TESTING METHODOLOGY: Polymerase chain reaction (PCR) and DNA Sequencing of exons 19 and 21.
 
SPECIMEN REQUIREMENTS:
 
Collect: Tumor specimen containing at least 30% tumor mass. 5 to 6 unsustained slides with 3-4 um thick tissue sections. Must be accompanied by a pathology report and an H&E slide with the tumor regions clearly identified.
  • Transport: Specimen should be shipped at Room Temperature (No Saturday delivery)
  • Unacceptable Conditions: Stained slides.
A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 918-502-1721 to obtain further information.
Note: Counseling and informed consent are recommended for genetic testing. A consent form is available as a resource but not required.
 
INTERPRETATIVE DATA:
 
Incidence: About 85% of lung cancers are nonsmall cell lung cancers (NSCLC); and of them, about 10% of those individuals have EGFR mutations. These individuals respond rapidly and dramatically to therapy with Gefitinib.
 
Molecular Genetic Mechanism: Somatic mutations can be point mutations or insertions and deletions.
 
Related Tests: KRAS (codons 12 and 13)
 
Clinical Sensitivity: The tissue sample submitted for testing must contain at least 30% tumor. The assay will detect a 25% population of mutant cells.
 
Analytical Sensitivity: 75%
 
Test Limitations: Mutations located outside of the exons examined by sequencing. This test is only for somatic EGFR mutation in cancer tissue. Rare diagnostic errors can occur due to primer / probe site mutations or rare polymorphisms.
 
INDICATIONS FOR USE:
  • To determine whether a nonsmall cell lung cancer in a patient may be responsive to therapy.
  • To assess whether additional tumors may be the result of metastasis.
ADDITIONAL REFERENCES:
OMIM - Lung Cancer: http://omim.org/entry/211980
Genetics Home Reference: http://www.ghr.nlm.nih.gov/gene/EGFR