Germline EGFR T790M mutation found in multiple members of a familial cohort Journal Article

Authors: Yu, H. A.; Arcila, M. E.; Fleischut, M. H.; Stadler, Z.; Ladanyi, M.; Berger, M. F.; Robson, M.; Riely, G. J.
Article Title: Germline EGFR T790M mutation found in multiple members of a familial cohort
Abstract: Activating mutations in epidermal growth factor receptor (EGFR) are present in a subset of lung cancers, and predict sensitivity to EGFR tyrosine kinase inhibitors. Acquisition of EGFR T790M is the most common mechanism of resistance to EGFR tyrosine kinase inhibitors and rarely is seen before treatment. Germline EGFR T790M mutations have been reported, although the penetrance and clinical significance of this mutation is unknown. We describe the identification of a patient with an EGFR T790M germline mutation and subsequent germline testing in her unaffected family members. Genetic testing revealed two additional EGFR T790M germline carriers, one of which was subsequently diagnosed with metastatic lung adenocarcinoma.
Keywords: resistance; susceptibility; cell lung-cancer
Journal Title: Journal of Thoracic Oncology
Volume: 9
Issue: 4
ISSN: 1556-0864
Publisher: Elsevier Inc.  
Date Published: 2014-04-01
Start Page: 554
End Page: 558
Language: English
ACCESSION: WOS:000333145300023
DOI: 10.1097/jto.0000000000000052
PUBMED: 24736080
PMCID: PMC4412273
Notes: Article -- Source: Wos
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MSK Authors
  1. Mark E Robson
    368 Robson
  2. Helena Alexandra Yu
    93 Yu
  3. Zsofia Kinga Stadler
    152 Stadler
  4. Marc Ladanyi
    879 Ladanyi
  5. Gregory J Riely
    350 Riely
  6. Michael Forman Berger
    392 Berger
  7. Maria Eugenia Arcila
    350 Arcila