ArticleJournal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer2014
Hereditary lung cancer syndrome targets never smokers with germline EGFR gene T790M mutations.
Article in Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 2 of them syntheses that pooled it.
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Who cites it
77 citing papers in PubMed, 2 syntheses or guidelines pooled it, 150 citations in OpenAlex.
- Cancer Predisposition Genes in Adolescents and Young Adults (AYAs): a Review Paper from the Italian AYA Working Group.Current oncology reports · 2022Pooled it
- Potential genetic modifiers for somatic EGFR mutation in lung cancer: a meta-analysis and literature review.BMC cancer · 2019Pooled it
- Novel Co-Occurrence of GermlineInternational journal of molecular sciences · 2026Article
- Prevalence and Clinical Implications of Somatic and Germline EGFR Mutations in Patients with Non-Small-Cell Lung Cancer.Cancers · 2026Review
- Innovative approaches for lung cancer screening and interception.Nature reviews. Clinical oncology · 2026Review
- Pulmonary ground glass opacity tumor: a curable subtype of lung cancer when treated within the "surgical curative time window".Translational lung cancer research · 2026Review
- Molecular Subtyping Based on EGFR Mutation-Associated Genes and the Prognostic Role of TRAF2 in Lung Adenocarcinoma.Human mutation · 2026Article
- Advances in the Basic Sciences in Thoracic Oncology in the Last 20 Years and Their Translational Impact.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2026Review
- Lung cancer in non-smoking women (LCINSW): from risk factors to precision therapy.Cancer metastasis reviews · 2025Review
- Surgical Resection for Rare Cases of Lung Cancer in Teenagers.Respirology case reports · 2025Article
- Genetic Ancestry and Lung Cancer in Latin American Patients: A Crucial Step for Understanding a Diverse Population.Clinical lung cancer · 2025Review
- Penetrance of interstitial lung disease and lung cancer in carriers ofERJ open research · 2025Article
- Inherited rare epidermal growth factor receptor mutation and somatic mutations in patients with non-small cell lung cancer: a case report.BMC medical genomics · 2025Article
- Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.Journal of translational medicine · 2025Article
- Survey for Activating Oncogenic Mutation Variants in Metazoan Germline Genes.Journal of molecular evolution · 2024Article
- Developmental mosaicism underlying EGFR-mutant lung cancer presenting with multiple primary tumors.Nature cancer · 2024Article
- The Personalized Inherited Signature Predisposing to Non-Small-Cell Lung Cancer in Non-Smokers.Cancers · 2024Article
- Benefits of osimertinib treat a lung adenocarcinoma patient with germline EGFR T790M, somatic EGFR 19-Del, TP53 and PIK3CA mutations.Hereditary cancer in clinical practice · 2024Article
- Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing.Molecular oncology · 2024Article
- Lung cancer in patients who have never smoked - an emerging disease.Nature reviews. Clinical oncology · 2024Review
17 more citing papers are in PubMed but not listed here.
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
introductionHereditary lung cancer syndromes are rare, and T790M germline mutations of the epidermal growth factor receptor (EGFR) gene predispose to the development of lung cancer. The goal of this study was to determine the clinical features and smoking status of lung cancer cases and unaffected family members with this germline mutation and to estimate its incidence and penetrance.
methodsWe studied a family with germline T790M mutations over five generations (14 individuals) and combined our observations with data obtained from a literature search (15 individuals).
resultsT790M germline mutations occurred in approximately 1% of non-small-cell lung cancer cases and in less than one in 7500 subjects without lung cancer. Both sporadic and germline T790M mutations were predominantly adenocarcinomas, favored female gender, and were occasionally multifocal. Of lung cancer tumors arising in T790M germline mutation carriers, 73% contained a second activating EGFR gene mutation. Inheritance was dominant. The odds ratio that T790M germline carriers who are smokers will develop lung cancer compared with never smoker carriers was 0.31 (p = 6.0E-05). There was an overrepresentation of never smokers with lung cancer with this mutation compared with the general lung cancer population (p = 7.4E-06).
conclusionGermline T790M mutations result in a unique hereditary lung cancer syndrome that targets never smokers, with a preliminary estimate of 31% risk for lung cancer in never smoker carriers, and this risk may be lower for heavy smokers. The resultant cancers share several features and differences with lung cancers containing sporadic EGFR mutations.
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