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Published Online First: 8 December 2006. doi:10.1136/jmg.2006.046102
Journal of Medical Genetics 2007;44:166-172
Copyright © 2007 by the BMJ Publishing Group Ltd.

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REVIEW

Somatic mutations of the epidermal growth factor receptor and non-small-cell lung cancer

Xiaozhu Zhang1, Alex Chang2

1 Division of Biomedical Sciences, Johns Hopkins Singapore, Singapore
2 International Medical Centre, Johns Hopkins Singapore, Singapore

Correspondence to:
Dr X Zhang
Division of Biomedical Sciences, Johns Hopkins Singapore, 31 Biopolis Way, #02-01, the Nanos, Singapore 138669, Singapore; xiaozhu{at}imc.jhmi.edu] Frequent overexpression of epidermal growth factor receptor (EGFR) in non-small-cell lung cancer (NSCLC) makes EGFR a new therapeutic target. Two specific EGFR tyrosine kinase inhibitors, gefitinib (ZD1839, Iressa) and erlotinib (OSI-774, Tarceva), have been developed and approved by the US Food and Drug Administration for second-line and third-line treatment of advanced NSCLC. Clinical trials have shown considerable variability in the response rate between different patients with NSCLC, which led to the discovery of somatic EGFR-activating mutations. This brief review summarises the discovery and functional consequences of the mutations, their clinicopathological features and significant implications in the treatment and prognosis of NSCLC.


Abbreviations: EGF(R), epidermal growth factor (receptor); NSCLC, non-small cell lung cancer; PCR, polymerase chain reaction; SSCP, single-strand conformation polymorphism; TKI, tyrosine kinase inhibitor




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