Health AI Central
Peer-Reviewed Publication
Science2026;393(6817):eaec0473.September 17, 2026Journal Article

Germline EGFR T790M mutation and lung cancer risk.

Jaclyn LoPiccolo1,2, Steven Micheletti3, Jing Shi3, Wei Wang3, Shubham Saini3, Keng-Han Lin3, Wanwan Xu3, Pierre Fontanillas3, , Diane R Koeller1,4, Helen Yatzus1,4, Victoria G Williamson1,2, Jose A Avila1,2, Raphael B Liautaud1,2, Noah D Fields1,5, Allison Harper6, Virginia Kotait6, Ericka Izzo6, Andrew Ciupek7, Courtney A Granville7, Ryan L Collins1,5, Judy E Garber1,4, David C Christiani8,9, Stella Aslibekyan3, Julie M Granka3, Alexander Gusev1,5, Pasi A Jänne1,2, A Auton, R K Bell, K K Bond, Z Cochinwala, S Das, K de Brito, E DelloRusso, C Eijsbouts, S L Elson, C German, J M Granka, B Hicks, D A Hinds, R Jabal, A Khan, M J Kmiecik, A Kwong, Y Liang, K-H Lin, M H McIntyre, S Saini, A J Shastri, J Shi, S Shringarpure, Q J Su, V Tran, J Y Tung, C H Weldon, W Xu
1Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
2The Lowe Center for Thoracic Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
323andMe Research Institute, Palo Alto, CA, USA.
4Division of Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA, USA.
5The Eli and Edythe L. Broad Institute, Cambridge, MA, USA.
6Addario Lung Cancer Medical Institute, San Carlos, CA, USA.
7GO2 for Lung Cancer, Washington, DC, USA.
8Department of Environmental Health, Harvard T. H. Chan School of Public Health, Boston, MA, USA.
9Massachusetts General Hospital, Boston, MA, USA.
PubMed DOI

Abstract

Most lung cancers are tobacco related, with genetic factors influencing smoking behavior identified through genome-wide association studies. However, inherited risk in familial and non-smoking-related lung cancers, including risk in carriers of EGFR T790M, remains poorly understood. Here, in more than 3.3 million individuals, the EGFR T790M germline variant is significantly associated with lung ca…

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