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Inherited predisposition to malignant mesothelioma: germline BAP1 mutations and beyond
F Pagliuca1, F Zito Marino, F Morgillo
1Department of Mental and Physical Health and Preventive Medicine, Pathology Unit, University of Campania "Luigi Vanvitelli", Naples, Italy. renato.franco@unicampania.it.
Summary
Genetic factors, like BAP1 mutations, increase malignant mesothelioma (MM) risk and asbestos sensitivity. Identifying these genetic predispositions is crucial for early surveillance and personalized cancer treatment strategies.
Area of Science:
- Oncology
- Genetics
- Cancer Research
Background:
- Malignant mesothelioma (MM) is a rare, aggressive cancer with poor prognosis, primarily linked to asbestos exposure.
- Genetic susceptibility is increasingly recognized as a contributing factor in MM development.
- The discovery of BAP1 mutations has defined BAP1-related tumor predisposition syndrome, increasing risks for various cancers.
Purpose of the Study:
- To explore the role of genetic susceptibility in malignant mesothelioma.
- To highlight the significance of BAP1 mutations and related syndromes in cancer predisposition.
- To emphasize the need for identifying families with germline BAP1 mutations for improved patient management.
Main Methods:
- Review of accumulating evidence on genetic susceptibility in MM.
- Identification and characterization of genes, such as BAP1, associated with MM predisposition.
- Analysis of pathogenic variants in DNA repair genes within families with clustered MM cases.
Main Results:
- Germline BAP1 mutations confer an increased risk for early-onset MM, uveal melanoma, and other cancers.
- Genetic alterations may enhance sensitivity to asbestos carcinogenicity.
- Specific genetic alterations might predict response to certain chemotherapeutic strategies.
Conclusions:
- Identifying individuals with germline BAP1 mutations is essential for implementing surveillance programs.
- Understanding genetic predispositions can lead to better clinical management and personalized treatment for MM patients.
- Further research into the translational significance of BAP1 alterations is warranted.
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