Navigation Links
Ohio State researchers discover hereditary predisposition of melanoma of the eye

COLUMBUS, Ohio Ohio State University researchers have discovered a hereditary cancer syndrome that predisposes certain people to a melanoma of the eye, along with lung cancer, brain cancer and possibly other types of cancer.

The hereditary cancer syndrome is caused by an inherited mutation in a gene called BAP1, researchers say.

The findings suggest that BAP1 mutations cause the disease in a small subset of patients with hereditary uveal melanoma and other cancers.

Uveal melanoma is a cancer of the eye involving the iris, ciliary body, or choroid, which are collectively known as the uvea. These tumors arise from the pigment cells, also known as melanocytes that reside within the uvea giving color to the eye. This is the most common type of eye tumor in adults.

The findings are reported in the Journal of Medical Genetics.

"We are describing a new cancer genetic syndrome that could affect how patients are treated," said first author Dr. Mohamed H. Abdel-Rahman, researcher at the Ohio State University Comprehensive Cancer Center Arthur G. James Cancer Hospital and Richard J. Solove Research Institute. "If we know that a patient has this particular gene mutation, we can be more proactive with increased cancer screenings to try to detect these other potential cancers when they are beginning to grow."

Study leader Dr. Frederick H. Davidorf, professor emeritus of ophthalmology at Ohio State University, explained that BAP1 seems to play an important role in regulating cell growth and proliferation, and that loss of the gene helps lead to cancer.

"If our results are verified, it would be good to monitor these patients to detect these cancers early when they are most treatable," said Davidorf, who treats ocular oncology patients at Ohio State along with researcher and physician Dr. Colleen Cebulla.

The study involved 53 unrelated uveal melanoma patients with high risk for hereditary cancer, along with additional family members of one of the study participants. Of the 53 patients in the study, researchers identified germline variants in BAP1 in three patients.

"We still don't know exactly the full pattern of cancers these patients are predisposed to, and more studies are needed," said Abdel-Rahman, also an assistant professor of ophthalmology and division of human genetics at Ohio State University College of Medicine.

"So far, we've identified about six families with this hereditary cancer syndrome. We are working with researchers at Nationwide Children's Hospital to develop a clinical test to screen for the BAP1 gene mutation," he said. "Families with this cancer syndrome should be screened for inherited mutations that increase their risk for developing several other cancers."


Contact: Eileen Scahill
Ohio State University Medical Center

Related medicine news :

1. Wayne State study shows early research on cellphone conversations likely overestimated crash risk
2. PSA testing, combined with other relevant patient data can reduce unnecessary prostate biopsies
3. Panel endorses active monitoring and delay of treatment for low-risk prostate cancer
4. New imaging agent has an appetite for dangerous prostate tumors
5. Active Surveillance May Benefit Men With Low-Risk Prostate Cancer
6. Some States Make Stopping Smoking Easier Than Others
7. New study reassures on heart risks of prostate cancer treatment
8. Hormone Drugs Might Not Raise Heart-Related Deaths in Prostate Patients
9. Dr. Luther T. Clark to present Merck Academy Talk at SUNY Downstate
10. States could see substantial savings with tobacco control programs
11. Incidences and severity of prostate cancer correlated with meat consumption
Post Your Comments:
(Date:11/26/2015)... ... ... Inevitably when people think Thanksgiving, they also think Holiday sales and start ... and Cyber Monday massage chair sales to receive the best pricing on ... find the best massage chair deals, they can see all of the coupons in ...
(Date:11/26/2015)... ... November 26, 2015 , ... ... Travel Representative. As a franchise owner, Somu now offers travelers, value and care ... wedding packages, private cruise sales, as well as, cabin upgrades and special amenities ...
(Date:11/26/2015)... ... 26, 2015 , ... Jobs in hospital medical laboratories and in the imaging ... staffing agency Aureus Medical Group . These fields, as well as ... searching for healthcare jobs through the company’s website, , The leading ...
(Date:11/26/2015)... (PRWEB) , ... November 26, 2015 , ... ... second medical opinion process, participated in the 61st annual Employee Benefits Conference. The ... and took place Sunday, November 8th through Wednesday, November 11th, 2015. The conference ...
(Date:11/26/2015)... ... November 26, 2015 , ... ... and wellness consultation, has collaborated with Women’s Web – an online resource ... on topics on mental and emotional well-being relationship, life balance, stress, professional ...
Breaking Medicine News(10 mins):
(Date:11/26/2015)... -- Research and Markets ( ) has ... Horizons and Growth Strategies in the Italian Therapeutic ... Forecasts, Competitive Intelligence, Emerging Opportunities" report to ... --> This new 247-page report provides ... monitoring market, including emerging tests, technologies, instrumentation, sales ...
(Date:11/25/2015)...  Amgen (NASDAQ: AMGN ) today announced the ... the United States (U.S.) Food and ... to Humira ® (adalimumab). Amgen believes this submission ... FDA and represents Amgen,s first BLA submission using the ... M.D., executive vice president of Research and Development at ...
(Date:11/25/2015)... , Nov. 25, 2015  ARKRAY USA ... continues to provide evidence demonstrating the accuracy of its ... Congress on Insulin Resistance, Diabetes and Cardiovascular Disease in ... both the Company,s GLUCOCARD ® 01 meter and ... accuracy requirements. The ability to accurately measure glucose levels ...
Breaking Medicine Technology: