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Understanding Lung Cancer Risk in Patients with Inherited EGFR T790M Mutations


  • Dr. Geoffrey Oxnard describes INHERIT, a study that aims to identify non-smoking lung cancer patients who have a rare EGFR mutation, called T790M, in the germline. Dr. Oxnard is heading the study in collaboration with the Addario Lung Cancer Medical Institute (ALCMI), leading lung cancer research centers, and commercial gene-testing laboratories.

  • It's well known that the most significant risk factor for lung cancer is cigarette smoking. However, an estimated 8 percent of men and 20 percent of women with lung cancer are never-smokers. Currently, the causes of lung cancer in nonsmokers or never-smokers are not well understood.

    A group of researchers at Dana-Farber is trying to understand whether inherited factors may partly explain the development of lung cancer in patients who did not smoke.

    A small number of people are born with a DNA mutation in the EGFR gene called T790M, which has been identified in some families suffering from lung cancer. This T790M mutation is called germline, because it is present in all of the body's cells, most likely because it was inherited from a parent.

    When doctors test a sample of tumor tissue from a patient diagnosed with lung cancer, they may find the T790M mutation.

    Because individuals and families carrying the inherited T790M are rare, in December 2012 we launched INHERIT, a collaborative study aimed at identifying and studying these individuals to better understand the cause of lung cancer and to find ways of reducing the chances that carriers of the T790M mutation will develop lung cancer. Study participants include smokers, former smokers, and non-smokers. Collecting such a registry of high-risk families will lay the groundwork for subsequent lung cancer screening and prevention research.

    We are also interested in studying individuals and their relatives who may carry other rare EGFR mutations which could be inherited, such as V8431, R776H, or V769M.

    Dr. Geoffrey Oxnard at Dana-Farber Cancer Institute is heading the study in collaboration with the Addario Lung Cancer Medical Institute (ALCMI), leading lung cancer research centers, and commercial gene-testing laboratories.

    Take the eligibility survey for this research study.

    If you'd like more information about this study, please email DFCIfamilialT790M@dfci.harvard.edu.