ArticleJournal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer2020
Novel Germline Mutations in DNA Damage Repair in Patients with Malignant Pleural Mesotheliomas.
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. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 38 citations in OpenAlex.
- Brief report: attitudes and barriers toward genetic testing in pleural mesothelioma: a nationwide Italian survey.Familial cancer · 2026Article
- The genetics of cancer heterogeneity and mesothelioma.Frontiers in oncology · 2026Review
- Clinicopathologic Characteristics and Clinical Outcomes of Patients with Testicular Mesothelioma.Annals of surgical oncology · 2025Article
- Bayesian analysis of the rate of spontaneous malignant mesothelioma among BAP1 mutant mice in the absence of asbestos exposure.Scientific reports · 2025Article
- Cellular defense mechanisms against asbestos fibers.Frontiers in public health · 2025Review
- Clinical Characteristics and Outcomes of Patients with Well-Differentiated Papillary Peritoneal Mesothelial Tumors.Annals of surgical oncology · 2024Article
- Review
- Targeting inflammatory factors for chemoprevention and cancer interception to tackle malignant mesothelioma.Oncoscience · 2024Article
- Targeted Approaches to Treatment of Pleural Mesothelioma: A Review.JCO precision oncology · 2023Review
- Epithelioid Mesothelioma Patients with Very Long Survival Display Defects in DNA Repair.Cancers · 2023Article
- Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.JAMA network open · 2023Article
- Mesothelioma-associated fibroblasts enhance proliferation and migration of pleural mesothelioma cells via c-Met/PI3K and WNT signaling but do not protect against cisplatin.Journal of experimental & clinical cancer research : CR · 2023Article
- Medical and Surgical Care of Patients With Mesothelioma and Their Relatives Carrying Germline BAP1 Mutations.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2022Review
- Molecular Characterization of Peritoneal Mesotheliomas.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2022Article
- Efficacy of CDK4/6 inhibitors in preclinical models of malignant pleural mesothelioma.British journal of cancer · 2021Article
- Malignant Pleural Mesothelioma: Time Is Running Out.Journal of clinical medicine · 2021Article
- Tumor Immune Microenvironment and Genetic Alterations in Mesothelioma.Frontiers in oncology · 2021Review
- The Molecular Basis of Malignant Pleural Mesothelioma.Thoracic surgery clinics · 2020Review
- Pathogenic germline variants are associated with poor survival in stage III/IV melanoma patients.Scientific reports · 2020Article
- Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
introductionAlthough next-generation sequencing (NGS) has brought insight into critical mutations or pathways (e.g., DNA damage sensing and repair) involved in the etiology of many cancers and has directed new screening, prevention, and therapeutic approaches for patients and families, it has only recently been used in malignant pleural mesotheliomas (MPMs).
methodsWe analyzed the blood samples from patients with MPM using the NGS platform MSK-IMPACT to explore cancer-predisposing genes. The loss-of-function variants or pathogenic entries were identified, and clinicopathologic information was collected.
resultsOf 84 patients with MPM, 12% (10 of 84) had pathogenic variants. Clinical characteristics were similar between cohorts, although patients with germline pathogenic variants were more likely to have more than two first-degree family members with cancer than those without germline mutations (40% versus 12%; Fisher's exact test, p < 0.05). Novel, deleterious variants in mesotheliomas included MutS homolog 3 (1% [one of 84]; 95% confidence interval [CI]: 0%-7%), breast cancer gene 1-associated ring domain 1 (1% [one of 84]; 95% CI: 0%-7%), and RecQ-like helicase 4 (2% [two of 84]; 95% CI: 0%-9%). Pathogenic variants previously reported on germline testing in patients with mesotheliomas were breast cancer gene 1-associated protein 1 (4% [three of 84]; 95% CI: 1%-10%), breast cancer gene 2 (1% [one of 84]; 95% CI: 0%-7%), and MRE11 homolog, double strand break repair nuclease (1% [one of 84]; 95% CI: 0%-7%). One patient (1% [one of 84]; 95% CI: 0%-7%) had a likely pathogenic alteration in SHQ1, H/ACA ribonucleoprotein assembly factor that has not been associated with a heritable susceptibility to cancer.
conclusionsOur study lends further support for the role of aberrations in DNA damage repair genes in the pathogenesis of MPMs and suggests that targeting the members of these pathways for screening and treatment warrants further study.
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