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EGFR mutational analysis by Real-Time PCR

EGFR mutational analysis by Real-Time PCR

Approximately 10% of patients with NSCLC in the US and 35% in East Asia have tumor associated EGFR mutations. These mutations occur within EGFR exons 18–21, which encodes a portion of the EGFR kinase domain (Figure 1). EGFR mutations are usually heterozygous, with the mutant allele also showing gene amplification. Approximately 90% of these mutations are exon 19 deletions or exon 21 L858R point mutations. These mutations increase the kinase activity of EGFR, leading to hyperactivation of downstream pro-survival signaling pathways.

Regardless of ethnicity, EGFR mutations are more often found in tumors from female never smokers (defined as less than 100 cigarettes in a patient's lifetime) with adenocarcinoma histology. However, EGFR mutations can also be found in other subsets of NSCLC, including in former and current smokers as well as in other histologies.

In the vast majority of cases, EGFR mutations are non-overlapping with other oncogenic mutations found in NSCLC (e.g., KRAS mutations, ALK rearrangements, etc.).

References:

  1. Shigematsu H et al, Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers. Natl Cancer Inst. 2005, 97:339-46.
  2. Nomura M, et al. Polymorphisms, mutations, and amplification of the EGFR gene in NSCL cancers. PLoS Med. 2007 Apr; 4(4):e125
  3. Wilmore-Payne C, et al. Detection of EGFR receptor and EGFR2 activating mutations in lung adenocarcinoma by high resolution melting amplicon analysis: correlation with gene copy number, protein expression, and hormone receptor expression. Hum Pathol. 2006 Jun; 37 (6): 755-63
  4. Benvenuti S et al., Oncogenic activation of the RAS/RAF signaling pathway impairs the response of metastatic colorectal cancers to anti-epidermal growth factor receptor antibody therapies. Cancer Res. 2007 Mar 15;67*(6):2643-8.
  5. Salomon DS. et al., Epidermal growth factor-related peptides and their receptors in human malignancies. Critical Reviews in Oncology/Haematology. 1995; 19:183-232
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Real-Time PCR