Abstract. Background: Germline mutations of the
oncosuppressor gene breast cancer 1-associated protein 1
(BAP1) were recently related to an autosomal-dominant tumor
predisposition syndrome (BAP1-TPDS), characterized by uveal
melanoma, malignant mesothelioma (MM), cutaneous
melanoma, and other malignancies. The demonstration that
BAP1 mutations are strongly associated with MM has provided
a real breakthrough in the study of genetic predisposition in MM,
that may explain why only a fraction of asbestos-exposed
individuals go on to develop MM. Materials and Methods: To
evaluate the possible role of BAP1 mutations in the epidemiology
of sporadic MM, and their relationship with asbestos exposure,
we determined the prevalence of germline BAP1 mutations by
the Sanger method in a group of 29 asbestos-exposed patients,
21 of which were diagnosed with MM. They were residents of
Trieste, a ship-building town in Northeast Italy with a very high
incidence of mesothelioma. Results: We identified non-obviously
pathogenetic germline sequence variants of BAP1 in 3/29
patients and in 2/21 MM cases (10%). Conclusion: Non
obviously pathogenic germline sequence variants of BAP1 were
found. Nevertheless, limitations of predictive web tools allowed
us to comment on some interesting peculiarities of our findings.
