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

DW Bell, I Gore, RA Okimoto, N Godin-Heymann… - Nature …, 2005 - nature.com
DW Bell, I Gore, RA Okimoto, N Godin-Heymann, R Sordella, R Mulloy, SV Sharma…
Nature genetics, 2005nature.com
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 …
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.
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