Skin flaws can indicate gene defect, increased cancer risk
By Gary T. Kubota
Sept. 8, 2012
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COURTESY UNIVERSITY OF HAWAII CANCER CENTER Skin tumors from the mutated BAP1 gene have a number of appearances, including (1) pink polyplike 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 might carry a gene mutation present in people 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 people are at higher risk of contracting the two cancers and can be identified by testing for the presence of certain molelike 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 risk 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," Dr. Michele Carbone, director of the university’s Cancer Center and professor of pathology at John A. Burns School of Medicine, said 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.
In a telephone interview Friday, Carbone said the next step is to enroll families in tests twice a year and possibly see whether people with the BAP1 mutations are susceptible to other cancers, including renal cancer.
The families who have undergone testing have been Caucasians, but the test group is expected to broaden to Asians and African-Americans as the study expands, Carbone said.
Cancer Center researcher Haining Yang, a University of Hawaii assistant professor, said the Caucasian families with the BAP1 gene mutation have a high incidence of these kinds of cancers.
But she said researchers can’t draw the conclusion that the same will be the case for other races.
Carbone and Yang said skin and eye cancers can be treated if detected early, and those with the BAP1 gene mutation should have themselves tested regularly.
Erionite, a mineral linked to increased risks of mesothelioma in Turkey and at a rate higher than asbestos, has been found present in gravel paving in North Dakota.
The National Institute of Environmental Health Sciences said most people have never heard of the mineral, and research is limited.
"There are no standards for mining or using rock containing erionite, and it has been used in at least one state to pave hundreds of miles of roads," the Institute said.
NIEHS, citing Carbone’s research, announced in February that an award has been granted for scientific research into erionite in at least 12 mainland states.
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COURTESY UNIVERSITY OF HAWAII CANCER CENTER