Bell, D. W., Gore, I., Okimoto, R. A., Godin-Heymann, N., Sordella, R., Mulloy, R., Sharma, S. V., Brannigan, B. W., Mohapatra, G., Settleman, J., Haber, D. A. (December 2005) Inherited susceptibility to lung cancer may be associated with the T790M drug resistance mutation in EGFR. Nature Genetics, 37 (12). pp. 1315-6. ISSN 1061-4036
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.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | Antineoplastic Agents pharmacology therapeutic use Carcinoma Non Small Cell Lung drug therapy enzymology genetics Drug Resistance Neoplasm genetics Female Genetic Predisposition to Disease Germ-Line Mutation Humans Lung Neoplasms drug therapy enzymology genetics Male Methionine genetics Middle Aged Pedigree Protein Kinase Inhibitors pharmacology therapeutic use Protein Tyrosine Kinases antagonists & inhibitors Receptor Epidermal Growth Factor genetics Threonine genetics |
| Subjects: | diseases & disorders > cancer > drugs and therapies bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types > EGFR diseases & disorders > cancer > cancer types > lung cancer bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > mutations bioinformatics > genomics and proteomics > genetics & nucleic acid processing > protein structure, function, modification > protein types > enzymes > kinase > tyrosine kinase |
| CSHL Authors: | |
| Communities: | CSHL labs > Sordella lab |
| Depositing User: | CSHL Librarian |
| Date: | December 2005 |
| Date Deposited: | 24 Apr 2012 15:47 |
| Last Modified: | 13 Mar 2013 16:03 |
| Related URLs: | |
| URI: | https://repository.cshl.edu/id/eprint/26249 |
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