Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases.

OBJECTIVE 23% of mesothelioma tumor specimens have a mutation in the BRCA1-associated protein 1 (BAP1) gene and germline BAP1 mutations predispose to malignant pleural mesothelioma (MPM). Our aim was to investigate germline BAP1 mutations in sporadic MPM patients. MATERIALS AND METHODS Exonic DNA from peripheral blood leucocytes of 78 MPM patients was screened for germline BAP1 mutation. RESULTS One out of 78 patients showed a germline synonymous mutation in exon 11. In all other patients wild-type sequence without any single-nucleotide polymorphisms was detected. CONCLUSIONS Taking into account previous similar screenings, the prevalence of germline BAP1 mutations in sporadic MPM patients can be estimated around 1-2%, suggesting a minor role of germline BAP1 mutation in the pathogenesis of sporadic MPM.