Carbone: Building the Guide to BAP1 Mutation in Mesothelioma

Over the years, I have “collected” many families affected by the BAP1 cancer syndrome, a novel medical condition we discovered in 2011. Pathogenic germline mutations, most of them BAP1 mutations, are estimated to be found in 10% of all those diagnosed with mesothelioma. BAP1 germline mutations occur in people born with only one functioning copy of the BAP1 gene, while the other copy is mutated and inactive. The mutations make these people very susceptible to developing cancer, in particular mesothelioma and melanoma. On the bright side, when mesothelioma develops in carriers of germline BAP1 mutations, patients have a much better prognosis. Some are cured. Starting in Cappadocian Villages of Turkey This research started in 1997 when I began investigating an epidemic of mesothelioma in three Cappadocian villages in Turkey. When I first visited these villages, I was shocked by what I saw: A tragedy, 50% of people in those villages died of mesothelioma. These people were exposed to fibers similar to asbestos called erionite, but some families were stricken by multiple mesotheliomas while others were not. Why? I decided to try to help them. I started spending my vacation time working in those villages. We discovered that susceptibility to developing mesothelioma was transmitted in an autosomal dominant fashion in certain families who were much more susceptible to erionite carcinogenic fibers. Later we convinced the Turkish government to build two new vill...
Source: Asbestos and Mesothelioma News - Category: Environmental Health Authors: Tags: Clinical Trials/Research/Emerging Treatments Source Type: news