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EGFR
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Interpretation 2128
Tier 2
EGFR
Variants
EGFR V765M
Primary Sites
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

The epidermal growth factor receptor (EGFR) is a cell surface receptor belonging to the ErbB family tyrosine kinase receptors. EGFR is involved in cell growth control through its role in the two main intracellular pathways, the mitogen-activated protein kinase (MAPK) pathway and the phosphatidylinositol 3-kinase- (PI3K-) protein kinase B (AKT) pathway. The over-expression or mutation of EGFR may be responsible for the constitutive activation of these pathways. In colorectal cancer, EGFR has been found to be frequently over expressed, and may be associated with tumor stage and prognosis. Somatic EGFR mutations are infrequent in colorectal cancers. The frequency of EGFR mutations in colorectal cancer varies from 0.34 to 3.3% in Western population, and from 12% to 22.4% in Asians. In a subset of patients with EGFR mutations in colorectal cancer, the addition of anti-EGFR monoclonal antibodies to the conventional chemotherapeutic regimens may expand response rates and increase progression-free survival. EGFR V765M lies within the protein kinase domain of the protein. In lung cancer, the V765M has been reported as a sensitizing mutation to EGFR tyrosine kinase inhibitors. The correlation of EGFR gene mutations with clinicopathologic characteristics in colorectal cancers continues to be explored.

Citations
  1. Oh BY, et al. Epidermal growth factor receptor mutations in colorectal cancer patients. J Korean Soc Coloproctol 2011;27(3):127-32
  2. Barber TD, et al. Somatic mutations of EGFR in colorectal cancers and glioblastomas. N Engl J Med 2004;351(27):2883
  3. Krasinskas AM. EGFR Signaling in Colorectal Carcinoma. Patholog Res Int 2011;2011():932932
  4. Metzger B, et al. The human epidermal growth factor receptor (EGFR) gene in European patients with advanced colorectal cancer harbors infrequent mutations in its tyrosine kinase domain. BMC Med Genet 2011;12():144
  5. Uniprot.org
  6. Massarelli E, Johnson FM, Erickson HS, Wistuba II, Papadimitrakopoulou V. Uncommon epidermal growth factor receptor mutations in non-small cell lung cancer and their mechanisms of EGFR tyrosine kinase inhibitors sensitivity and resistance. Lung Cancer. 2013 Jun;80(3):235-41.
  7. Kim HS, Kim S-M, Kim H, et al. Phase II clinical and exploratory biomarker study of dacomitinib in recurrent and/or metastatic esophageal squamous cell carcinoma. Oncotarget. 2015;6(42):44971-44984.
Last updated: 2018-03-06 17:59:58 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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