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Significance We found that the probability of carrying heterozygous germlineBLM mutations is significantly higher among mesothelioma patients than in the general population. In vitro and in vivo experiments suggest that heterozygousBLM mutations increase susceptibility to mesothelioma.BLM -mutation carriers are at higher risk of developing mesothelioma, and their risk increases upon asbestos exposure. Therefore,BLM mutation carriers should benefit from prevention and screening for early detection. We suggest that genetic testing to identify carriers ofBLM heterozygous mutations and genetic counseling would help identify individuals at higher risk of mesothelioma and provide mutation carriers the option to implement simple preventive measures to reduce exposure to asbestos and other carcinogenic fibers to decrease their risk of developing mesothelioma.

Heterozygous germline BLM mutations increase susceptibility to asbestos and mesothelioma