Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR by Bell Daphne W, Gore Ira, Okimoto Ross A, Godin-Heymann Nadia, Sordella Raffaella, Mulloy Roseann, Sharma Sreenath V, Brannigan Brian W, Mohapatra Gayatry, Settleman Jeff, Haber Daniel A in Nature genetics (2005).

[PMID: 16258541] PubMed


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.

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