Navigation Links
Ohio State researchers discover hereditary predisposition of melanoma of the eye
Date:12/15/2011

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
Eileen.Scahill@osumc.edu
614-293-3737
Ohio State University Medical Center
Source:Eurekalert

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:
*Name:
*Comment:
*Email:
(Date:5/23/2016)... Bensonhurst, NY (PRWEB) , ... May 23, 2016 , ... ... Enrico Ferdico took the time to summarize the weight loss process: , New patients ... a Body Composition Analysis (BCA) to get accurately evaluated. , Body Composition Analysis, There ...
(Date:5/23/2016)... , ... May 23, 2016 , ... According to an article published May ... massive role in oral health and hygiene. The article points out that, as long as ... their toothbrushes will become worn and frayed. Of course, these worn-out bristles won’t clean teeth ...
(Date:5/23/2016)... , ... May 23, 2016 , ... According to an ... in an exuberant mood since the birth of her son, Rockwell Lloyd Liu, and ... ever had.” The “Elementary” and “Kill Bill” star explains that, as a career oriented ...
(Date:5/23/2016)... ... May 23, 2016 , ... The Clinical Data ... from the Japan PMDA, US FDA, industry and academia at the 2016 ... format data from clinical trials so that it can be shared and compared, ...
(Date:5/23/2016)... ... ... NYDNRehab, a New York City-based physical therapy clinic , is introducing ... type of technology, which was developed by world-renowned researcher Dr. Christopher Powers of University ... With over 10 million sport injuries per year in the United States, ...
Breaking Medicine News(10 mins):
(Date:5/19/2016)... According to a new market research report "Sunitinib Malate ... Germany , France , U.K., ... Japan )", published by MarketsandMarkets, The market is projected to ... from 2016 to 2021.      (Logo: http://photos.prnewswire.com/prnh/20160303/792302 ... through 26 Pages and in-depth TOC on "Sunitinib Malate ...
(Date:5/19/2016)... , May 19, 2016 , The ... (a bstract # 8006)   The ... of the treated patients with 90% of the ... six months or more . Seventy two percent of the patients had ... (MSE:PHM) announces the positive results from a Phase I study of plitidepsin in ...
(Date:5/19/2016)... NEW YORK , May 19, 2016 ... one sector that is always abounding of surprises is without ... the Healthcare sector ahead of today,s trading session: Alkermes PLC ... AMAG ), IDEXX Laboratories Inc. (NASDAQ: IDXX ... Sign up for your complimentary alerts at: ...
Breaking Medicine Technology: