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• W2000491235 abstract "Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DCBackground: The EGFR T790M mutation, commonly associated with acquired resistance to EGFR kinase inhibitors, has also been described rarely as a germline mutation in association with familial lung cancer. In collaboration with the Addario Lung Cancer Medical Institute (www.ALCMI.net), we initiated a prospective trial to identify patients and families carrying germline EGFR mutations in order to characterize their lung cancer risk.Preliminary data: In a prior study (GR Oxnard et al, JTO, 2012), it was identified that patients with lung cancers found to harbor EGFR T790M at diagnosis have a 50% chance of carrying an underlying germline T790M mutation. This suggests that by focusing on patients already identified to carry T790M in their cancer, it is possible to enrich for a germline mutation that may be otherwise too rare to study prospectively.Subject eligibility: The following groups are eligible: (1) Patients with a cancer (lung or other) harboring an EGFR T790M mutation on tumor genotyping; lung cancers that acquired EGFR T790M only following treatment with an EGFR kinase inhibitor are ineligible. (2) First-degree relatives of patients found to carry a germline EGFR mutation. (3) Patients who already are known to carry a germline EGFR mutation on prior testing. Subjects are referred to cohort 1 based upon genotyping results from academic centers, oncology practices, or partnering commercial laboratories (e.g. Response Genetics, Los Angeles, CA).Trial design: Subjects may present at a participating cancer center or may participate remotely through a study website (www.Dana-Farber.org/T790Mstudy). Eligible patients submit a saliva and/or blood specimen for central testing in a CLIA lab. After counseling, patients carrying germline EGFR mutations have the option of inviting first-degree relatives to participate. Genetic counseling is coordinated at the participating center or offered over the phone. Chest CT scans are collected from germline carriers and analyzed centrally to study nodule prevalence and characteristics. Patients are then clinically followed for 2 years.Funding: Supported by grants from the Conquer Cancer Foundation of ASCO and the Bonnie J. Addario Lung Cancer Foundation.Citation Format: Geoffrey R. Oxnard, Elizabeth J. Root, Alicia Sable-Hunt, Irene Rainville, Suzanne E. Dahlberg, Jennifer C. Heng, David M. Jackman, Pasi A. Janne, Judy E. Garber. The INHERIT EGFR study: Investigating hereditary risk from T790M. [abstract]. In: Proceedings of the 104th Annual Meeting of the American Association for Cancer Research; 2013 Apr 6-10; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2013;73(8 Suppl):Abstract nr 2417. doi:10.1158/1538-7445.AM2013-2417" @default.
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• W2000491235 date "2013-04-15" @default.
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• W2000491235 title "Abstract 2417: The INHERIT EGFR study: Investigating hereditary risk from T790M." @default.
• W2000491235 doi "https://doi.org/10.1158/1538-7445.am2013-2417" @default.
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