This finding offers physicians with a visual marker in recognizing individuals possibly carrying germline BAP1 mutations. People having this syndrome should lessen their exposure to environmental risk factors such as UV radiation for melanoma and avoid erionite and asbestos exposure for mesothelioma. It will also help identify individuals who are at higher risk for melanomas, as well as assist in the early detection of mesothelioma, which typically leads to better prognosis.
“Identifying this gene as a cause of several cancers can tell us who is at risk in a family before the cancer develops,” said Michele Carbone, MD, PhD, director of the University of Hawai’i Cancer Center and professor of pathology, John A. Burns School of Medicine. “We can advise patients to undergo routine exams and genetic testing for early diagnoses and treatment.”
Carbone and colleagues have patented his novel gene-testing and it is performed exclusively at The Queen’s Medical Center in Honolulu, Hawaii where genetic samples from across the entire United States are sent. Carbone previously discovered that individuals carrying BAP1 mutations are vulnerable to developing mesothelioma and melanoma of the eye. This latest discovery builds on this and other research on the
BAP1 mutation.