New research published in the Journal of Translational Medicine’s Personalized medicine section outlines the discovery that germ line BAP1 defects are responsible for a novel cancer syndrome characterised by malignant mesothelioma, uveal melanoma, cutaneous melanoma and atypical melanocytic tumors, known as “melanocytic BAP1-mutated atypical intradermal tumors” (MBAITs).
Researchers from the University of Hawai‘i Cancer Center investigated two families with BAP1 defects and found an increase in the occurrence of mole-like melanocytic lesions and were able to determine that these benign tumors carried BAP1 mutations. The article concludes that the presence of melanocytic tumors can be used as a visual marker for identifying individuals with germ line BAP1 mutations and, as a result, are at higher risk of developing melanoma and mesothelioma.
By identifying this syndrome in individuals it is hoped that these melanomas and mesotheliomas will be detected earlier, improving their prognoses and increasing the chances of a cure. Also, individuals with this syndrome can reduce their exposure to environmental risk factors, such as UV radiation for melanoma, and erionite and asbestos for mesothelioma. Lead author Michele Carbone said of the study “Identifying this gene as a cause of several cancers can tell us who is at risk in a family before the cancer develops. We can advise patients to have genetic testing and routine exams for early diagnoses and treatment.”