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Monday, August 29, 2011

Genetic Pre-Disposition to Mesothelioma


The workers' compensation system has struggled with asbestos related claims for decades. The serious and sometimes fatal occupational malignancies that asbestos exposure has been responsible for have resulted in an unabated epidemic surge of claims for which he system was unable to handle efficiently. The recent findings of a genetic predisposition to mesothelioma is a hopeful beginning that positive research efforts will yield both prevention and cure of asbestos related disease.

Scientists have found that individuals who carry a mutation in a gene called BAP1 are susceptible to developing two forms of cancer – mesothelioma, and melanoma of the eye. Additionally, when these individuals are exposed to asbestos or similar mineral fibers, their risk of developing mesothelioma, an aggressive cancer of the lining of the chest and abdomen, may be markedly increased.

"Because only a small fraction of asbestos-exposed individuals develop malignant mesothelioma1, and because mesothelioma clustering is observed in some families, we searched for genetic predisposing factors. We discovered germline mutations in the gene encoding BRCA1 associated protein-1 (BAP1) in two families with a high incidence of mesothelioma, and we observed somatic alterations affecting BAP1 in familial mesotheliomas, indicating biallelic inactivation. In addition to mesothelioma, some BAP1 mutation carriers developed uveal melanoma. We also found germline BAP1 mutations in 2 of 26 sporadic mesotheliomas; both individuals with mutant BAP1 were previously diagnosed with uveal melanoma. We also observed somatic truncating BAP1mutations and aberrant BAP1 expression in sporadic mesotheliomas without germline mutations. These results identify a BAP1-related cancer syndrome that is characterized by mesothelioma and uveal melanoma. We hypothesize that other cancers may also be involved and that mesothelioma predominates upon asbestos exposure. These findings will help to identify individuals at high risk of mesothelioma who could be targeted for early intervention."

"Germline BAP1 mutations predispose to malignant mesothelioma,
" Nature Genetics (2011) doi:10.1038/ng.912Received 06 May 2011 Accepted 27 July 2011 Published online 28 August 2011


Also see NIH Press Release: NIH-funded researchers discover genetic link to mesothelioma; Identified gene mutation may underlie other cancer types

For over 3 decades the Law Offices of Jon L. Gelman  1.973.696.7900  jon@gelmans.com have been representing injured workers and their families who have suffered occupational accidents and illnesses.