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UH discovery may help identify people with higher cancer risk

  • COURTESY PHOTOS
    Skin tumors from the mutated BAP1 gene have a number of appearances, including (1) pink polyp-like bumps or papules, (2) raised pink papules and (3) lightly pigmented papules. These are hard to distinguish from benign bumps called nevi (4), in this case from the same patient pictured in (2).
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University of Hawaii cancer researchers say a new discovery allows physicians to visually identify individuals who may carry a gene mutation present in persons with a higher risk of skin cancer.

The visual marker also applies to those who are at higher risk of mesothelioma, a cancer associated with asbestos exposure affecting the membrane lining of the lungs and abdomen.

The findings were published in the Aug. 30 issue of the Journal of Translational Medicine.

University researchers said persons are at higher risk of contracting the two cancers and can be identified by testing for the presence of certain mole-like tumors that are noncancerous, flat or slightly elevated, and pigmented skin lesions that have the BAP1 gene defect.

Researchers warned that people with the BAP1 gene defect should reduce their exposure to environmental risks factors, such as ultraviolet radiation for melanoma and avoid the fibrous mineral “erionite” and asbestos exposure for mesothelioma.

“Identifying this gene as a cause of several cancers can tell us who is at risk in a family before the cancer develops,” said Dr. Michele Carbone, director of the University’s Cancer Center and professor of pathology at John A. Burns School of Medicine, in a release Wednesday. “We can advise patients to undergo routine exams and genetic testing for early diagnoses and treatment.”

Carbone and colleagues have already patented the gene-testing, a process performed exclusively at the Queen’s Medical Center.

The latest discovery builds on Carbone’s previous discovery that individuals who carry BAP1 mutations are susceptible to developing mesothelioma and melanoma of the eye, according to the University of Hawaii Cancer Center.

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