ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2022
Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2022. 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 16 papers.
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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
16 citing papers in PubMed, 29 citations in OpenAlex.
- Prevalence and Clinical Implications of Somatic and Germline EGFR Mutations in Patients with Non-Small-Cell Lung Cancer.Cancers · 2026Review
- MEN1 Deficiency Drives Lung Cancer Progression via Activation of MMP10-Mediated Angiogenesis.Cancer science · 2026Article
- Germline determinants of risk and molecular subtype in young-onset lung cancer.medRxiv : the preprint server for health sciences · 2026Article
- Identification ofOncology research · 2026Article
- Established Cancer Predisposition Genes in Single and Multiple Cancer Diagnoses.JAMA oncology · 2025Article
- Emerging Trends in Global Lung Cancer Burden.Seminars in respiratory and critical care medicine · 2025Review
- Comprehensive genomic profiling of Chinese lung cancer characterizes germline-somatic mutation interactions influencing cancer risk.Journal of translational medicine · 2025Article
- Association of Germline Pathogenic Variants inJCO precision oncology · 2025Article
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- Article
- Lung cancer in patients who have never smoked - an emerging disease.Nature reviews. Clinical oncology · 2024Review
- Geographic differences in lung cancer: focus on carcinogens, genetic predisposition, and molecular epidemiology.Therapeutic advances in medical oncology · 2024Review
- Rate of Pathogenic Germline Variants in Patients With Lung Cancer.JCO precision oncology · 2023Review
- New insights into the biology and development of lung cancer in never smokers-implications for early detection and treatment.Journal of translational medicine · 2023Review
- Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer.Human genomics · 2023Article
- AtypicalFrontiers in oncology · 2023Article
Corrections and comments
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Authors and funding
37 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundThe genetic factors that modulate risk for developing lung cancer have not been fully defined. Here, we sought to determine the prevalence and clinical significance of germline pathogenic/likely pathogenic variants (PV) in patients with advanced lung cancer.
methodsWe studied clinical and tumor characteristics of germline PV in 5,118 patients who underwent prospective genomic profiling using paired tumor-normal tissue samples in 468 cancer genes.
resultsGermline PV in high/moderate-penetrance genes were observed in 222 (4.3%) patients; of these, 193 patients had PV in DNA damage repair (DDR) pathway genes including BRCA2 (n = 54), CHEK2 (n = 30), and ATM (n = 26) that showed high rate of biallelic inactivation in tumors. BRCA2 heterozygotes with lung adenocarcinoma were more likely to be never smokers and had improved survival compared with noncarriers. Fourteen patients with germline PV in lung cancer predisposing genes (TP53, EGFR, BAP1, and MEN1) were diagnosed at younger age compared with noncarriers, and of tumor suppressors, 75% demonstrated biallelic inactivation in tumors. A significantly higher proportion of germline PV in high/moderate-penetrance genes were detected in high-risk patients who had either a family history of any cancer, multiple primary tumors, or early age at diagnosis compared with unselected patients (10.5% vs. 4.1%; P = 1.7e-04).
conclusionsThese data underscore the biological and clinical importance of germline mutations in highly penetrant DDR genes as a risk factor for lung cancer. IMPACT: The family members of lung cancer patients harboring PV in cancer predisposing genes should be referred for genetic counseling and may benefit from proactive surveillance.
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