Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes
Abstract
Pathogenic germline variants in the BAP1 tumor suppressor gene can cause a cancer syndrome called BAP1 tumor predisposition syndrome ( BAP1 ‐TPDS), which is characterized by predisposition to mesothelioma, melanoma, renal cell carcinoma, basal cell carcinoma, and other tumors. Other genes that may predispose to mesothelioma are CDKN2A and DNA repair genes. Asbestos exposure has often been reported in patients with malignant pleural mesothelioma (MPM) and germline variants in BAP1 , but this exposure has never been quantified. We aimed to search for germline variants in BAP1 among 25 new Italian probands with suspected BAP1 ‐TPDS, summarize the prevalence of these variants in 39 Italian patients with familial MPM and other tumors recruited over a 5‐year period, and compare cumulative asbestos exposure in 14 patients with MPM and pathogenic germline variants in BAP1 , CDKN2A , or DNA repair genes with that of 67 patients without germline variants in 94 cancer‐predisposing genes. We report here a new pathogenic germline variant in BAP1 : c.783 + 2 T > C. The prevalence of pathogenic germline variants in BAP1 was 7.7% among patients with familial MPM (3/39). Patients with pathogenic germline variants in BAP1 , CDKN2A , or DNA repair genes showed lower cumulative asbestos exposure than patients without germline variants in 94 cancer‐predisposing genes ( P = .00002). This suggests an interaction between genetic risk factors and asbestos in the development of mesothelioma.
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BAP1 mutations simultaneously impair transcription and gene expression, mechanisms regulating cell death and DNA repair, and metabolic pathways, increasing cancer risk.
“BAP1 mutations simultaneously impair (1) transcription and gene expression, (2) the mechanisms regulating cell death and DNA repair, and (3) metabolic pathways, increasing cancer risk [136,137,138] (Figure 2).”
From Chronic Inflammation, Oxidative Stress and Metabolic Plasticity: Three Players Driving the Pro-Tumorigenic Microenvironment in Malignant Mesothelioma (2023) · cites this paper as [138]
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Current causes of mesothelioma: how has the asbestos ban changed the perspective?
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- Authors
- Betti, M., Aspesi, A., Ferrante, D., Sculco, M., Righi, L., Mirabelli, D., Napoli, F., Rondón‐Lagos, M., Casalone, E., Vignolo Lutati, F., Ogliara, P., Bironzo, P., Gironi, C. L., Savoia, P., Maffè, A., Ungari, S., Grosso, F., Libener, R., Boldorini, R., Valiante, M., Pasini, B., Matullo, G., Scagliotti, G., Magnani, C., & Dianzani, I.
- Affiliations
- Università degli Studi del Piemonte Orientale “Amedeo Avogadro” (IT)
- University of Turin (IT)
- Piedmont Reference Center for Epidemiology and Cancer Prevention (IT)
- Universidad Pedagógica y Tecnológica de Colombia (CO)
- Italian institute for Genomic Medicine (IT)
- Medical Genetics Unit AOU Città della Salute e della Scienza Turin Italy
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Department of Health Sciences University of Piemonte Orientale Novara Italy
- Molecular Genetics and Biology Unit Santa Croce e Carle Hospital Cuneo Italy
- Azienda Sanitaria Ospedaliera S.Croce e Carle Cuneo (IT)
- Azienda Ospedaliera Nazionale SS. Antonio e Biagio e Cesare Arrigo (IT)
- Sapienza University of Rome (IT)
- Corresponding author
- Betti, Marta
- ORCID
- Venue
- Genes, Chromosomes and Cancer
- Publisher
- Wiley
- Published
- 2018-10-19
- Volume
- 57
- Issue
- 11
- Pages
- 573-583
- ISSN
- 1045-2257 (ISSN-L)
- 1098-2264
- OpenAlex
- W2897007999
- Cited by
- 62
- References
- 51
- Citations by year
- 2026: 5 · 2025: 9 · 2024: 5 · 2023: 9 · 2022: 7 · 2021: 10 · 2020: 10 · 2019: 7
- FWCI
- 5.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Genes Chromosomes and Cancer (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Funders
- Associazione Italiana per la Ricerca sul Cancro (IG 17464, 2015 IG 17464)
- Istituto Superiore di Sanità
- Regione Piemonte
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Occupational and environmental lung diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- malignant pleural mesothelioma, asbestos exposure, BAP1, BAP1 tumor predisposition syndrome, germline mutations, CDKN2A, DNA repair genes, cancer susceptibility, genetic susceptibility
- MeSH terms
- Adult, Asbestos, DNA Repair, Environmental Exposure, Female, Humans, Italy, Male, Mesothelioma, Middle Aged, Cohort Studies, Germ-Line Mutation, Genetic Predisposition to Disease, Tumor Suppressor Proteins, Ubiquitin Thiolesterase
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