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Nat Genet. 2005 Dec;37(12):1315-6. Epub 2005 Oct 30.

Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR.

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  • 1Massachusetts General Hospital Cancer Center, Harvard Medical School, 13th Street, Charlestown, Massachusetts 02129, USA.

Abstract

Somatic activating mutations in EGFR identify a subset of non-small cell lung cancer that respond to tyrosine kinase inhibitors. Acquisition of drug resistance is linked to a specific secondary somatic mutation, EGFR T790M. Here we describe a family with multiple cases of non-small cell lung cancer associated with germline transmission of this mutation. Four of six tumors analyzed showed a secondary somatic activating EGFR mutation, arising in cis with the germline EGFR mutation T790M. These observations implicate altered EGFR signaling in genetic susceptibility to lung cancer.

PMID:
16258541
[PubMed - indexed for MEDLINE]
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