ArticleJournal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer2020
Inherited Rare, Deleterious Variants in ATM Increase Lung Adenocarcinoma Risk.
Article in Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06181812 (Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes Among Patients With Lung Adenocarcinoma), which is not on this map. Cited by 23 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Prevalence of Pathogenic or Likely Pathogenic Germline Variants in Cancer Predisposition Genes Among Patients With Lung Adenocarcinoma
Who cites it
23 citing papers in PubMed, 36 citations in OpenAlex.
- Inherited genetic risk factors in young-onset lung cancer.medRxiv : the preprint server for health sciences · 2026Article
- Established Cancer Predisposition Genes in Single and Multiple Cancer Diagnoses.JAMA oncology · 2025Article
- A CMTM6 Nanobody Overcomes EGFR-TKI Resistance in Non-Small Cell Lung Cancer.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
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- Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing.Molecular oncology · 2024Article
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- Rate of Pathogenic Germline Variants in Patients With Lung Cancer.JCO precision oncology · 2023Review
- Classification of the immune microenvironment associated with 12 cell death modes and construction of a prognostic model for squamous cell lung cancer.Journal of cancer research and clinical oncology · 2023Article
- Dipeptidase‑2 is a prognostic marker in lung adenocarcinoma that is correlated with its sensitivity to cisplatin.Oncology reports · 2023Article
- Homologous recombination pathway gene variants identified by tumor-only sequencing assays in lung carcinoma patients.Translational lung cancer research · 2023Article
- Germline rare deleterious variant load alters cancer risk, age of onset and tumor characteristics.NPJ precision oncology · 2023Article
- AtypicalFrontiers in oncology · 2023Article
- Functional studies of lung cancer GWAS beyond association.Human molecular genetics · 2022Review
- Rare germline deleterious variants increase susceptibility for lung cancer.Human molecular genetics · 2022Article
- Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- Are polygenic risk scores ready for the cancer clinic?-a perspective.Translational lung cancer research · 2022Review
- TRIM44 promotes BRCA1 functions in HR repair to induce Cisplatin Chemoresistance in Lung Adenocarcinoma by Deubiquitinating FLNA.International journal of biological sciences · 2022Article
- Lung cancer is also a hereditary disease.European respiratory review : an official journal of the European Respiratory Society · 2021Review
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
Abstract
introductionLung cancer is the leading cause of cancer deaths in the world, and lung adenocarcinoma (LUAD) is its most prevalent subtype. Symptoms are often found in advanced disease in which treatment options are limited. Identifying genetic risk factors will enable better identification of high-risk individuals.
methodsTo identify LUAD risk genes, we performed a case-control association study for gene-level burden of rare, deleterious variants (RDVs) in germline whole-exome sequencing data of 1083 patients with LUAD and 7650 controls, split into discovery and validation cohorts. Of these, we performed whole-exome sequencing on 97 patients and acquired the rest from multiple public databases. We annotated all rare variants for pathogenicity conservatively, using the guidelines of the American College of Medical Genetics and Genomics and ClinVar curation, and investigated gene-level RDV burden using penalized logistic regression. All statistical tests were two-sided.
resultsWe discovered and replicated the finding that the burden of germline ATM RDVs was significantly higher in patients with LUAD versus controls (combined cohort OR = 4.6; p = 1.7e-04; 95% confidence interval = 2.2-9.5; 1.21% of cases; 0.24% of controls). Germline ATM RDVs were also enriched in an independent clinical cohort of 1594 patients from the MSK-IMPACT study (0.63%). In addition, we observed that an Ashkenazi Jewish (AJ) founder ATM variant, rs56009889, was statistically significantly more frequent in AJ cases versus AJ controls in our cohort (combined AJ cohort OR = 2.7, p = 6.9e-03, 95% confidence interval = 1.3-5.3).
conclusionsOur results indicate that ATM is a moderate-penetrance LUAD risk gene and that LUAD may be a part of the ATM-related cancer syndrome spectrum. Individuals with ATM RDVs are at an elevated LUAD risk and can benefit from increased surveillance (particularly computed tomography scanning), early detection, and chemoprevention programs, improving prognosis.
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