Groundbreaking Research on Inherited Gene Mutation in Lung Cancer Published in Journal of Clinical Oncology

Updated on November 11, 2023

GO2 for Lung Cancer announced that researchers have described a new familial syndrome in people with lung cancer caused by an inherited gene mutation. The research study was published this month in the Journal of Clinical Oncology. The report chronicles the methods and findings of the INHERIT study, more than a decade of research coordinated by the Addario Lung Cancer Medical Institute, Dana-Farber Cancer Institute, and other collaborators into the EGFR T790M gene mutation. ALCMI is GO2 for Lung Cancer’s medical consortium. 

The INHERIT T790M study identified and characterized one specific inherited genetic mutation in the EGFR gene. The study proved that genetic mutations can be inherited and thus increase the risk for developing lung cancer in these families. “To our knowledge, this is the first prospective description of familial EGFR—mutant lung cancer, identifying a recent founder germline EGFR T790M variant enriched in the Southeast United States. The high prevalence of EGFR-driver lung adenocarcinomas and lung nodules in germline carriers supports effort to identify affected patients and family members for investigation of CT-based screening for these high-risk individuals,” the researchers concluded in the study. 

“In these rare families with germline EGFR mutations, we see a clear disposition toward developing a distinct and more treatable type of lung cancer,” said Geoff Oxnard, M.D., the primary investigator of the INHERIT study and a thoracic oncologist at Boston Medical Center. “Such inherited disposition toward lung cancer is poorly understood, yet it shines a light on the potential power of understanding lung cancer risk to enable early detection and effective treatment.”

Using GO2’s  ALCMI network of cancer centers and other referrals, INHERIT tested people with lung cancer for the inherited T790M mutation. If positive, the patients’ families were asked to test and participate in the study as well.  ALCMI coordinated tissue collection and analysis.

“Understanding the underlying biology of lung cancer helps us determine whether having this inherited gene alteration raises the risk of being diagnosed with lung cancer,” said Bonnie J. Addario, co-founder and board member of GO2 for Lung Cancer and ALCMI, member of ALCMI’s Scientific Leadership Board, and co-author of the INHERIT manuscript. “The INHERIT study provides critical insight into why lung cancer develops and will ultimately expedite and advance targeted treatment for those presenting with the T790M mutation in the EGFR gene.”

Dr. Oxnard began leading the INHERIT study while serving in his former position with Dana Farber Cancer Institute. The study was open to ALCMI member institutions including DFCI, Vanderbilt-Ingram Cancer Center and James Cancer Center at The Ohio State University Medical Center.

“This study describes a novel and important part of understanding risk for lung cancer. It is the leading cause of cancer death in the U.S. and worldwide, and is becoming increasingly common in people with no smoking history,” said former GO2 Chief Scientific Officer Jennifer C. King, Ph.D. “The INHERIT study explains one way that families may be at higher risk for lung cancer due to a genetic mutation. This research helps lay the groundwork for improved prevention, screening, treatment and ultimately survival of people wo are at risk.”

GO2 President & CEO Laurie Ambrose emphasized how INHERIT will influence future research. “This work demonstrates that there are familial lung cancer syndromes and paves the way for new research.  These new studies include research that could identify additional inherited risk mutations and address whether people with inherited family syndromes should be eligible for lung cancer screening.”

For more information on GO2 for Lung Cancer, visit


GO2 for Lung Cancer relentlessly confronts lung cancer on every front, every day. for everyone. Founded by patients and survivors, GO2 is dedicated to increasing survival for those at risk, diagnosed and living with lung cancer. For more information visit , l Facebook,@GO2forLungCancer) Instagram and X(formerlyTwitter, @go2forlungcancr) and LinkedIn(@go2forlungcancer).  


As GO2 for Lung Cancer’s medical consortium, the Addario Lung Cancer Medical Institute (ALCMI, voiced as “Alchemy”), founded in 2008 as a 501c(3) non-profit organization, is a patient-centric, international research consortium driving research otherwise not feasible. ALCMI overcomes barriers to collaboration via a world-class team of investigators from more than 25 institutions in the United States, France, Italy, Spain and United Kingdom, supported by dedicated research infrastructures such as centralized tissue banks and data systems.

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