Navigation Links
University of Hawaii cancer researchers discover gene defect responsible for cancer syndrome
Date:9/6/2012

HONOLULU, HI - University of Hawai'i Cancer Center researchers have discovered germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and atypical melanocytic tumors. Germline mutations are hereditary gene defects that are present in every cell.

The study investigated two unrelated families with BAP1 defects and found an increase in the occurrence of mole-like melanocytic tumors that are non-cancerous flat or slightly elevated and pigmented skin lesions. These benign skin lesions were found to carry the BAP1 mutation and it was concluded that people with this specific type of melanocytic lesion are at higher risk of developing melanoma and mesothelioma.

This discovery provides physicians with a visual marker in identifying individuals that may carry germline BAP1 mutations. People having this syndrome should reduce 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 which is usually cured with timely detection and to 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 UH 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 is the leading author of the paper included in the August 30, 2012 issue of the Journal of Translational Medicine, published by BioMed Central.

This novel gene-testing has been patented by Carbone and colleagues and is performed exclusively at The Queen's Medical Center in Honolulu, Hawaii where they receive genetic samples from across the entire United States. Carbone previously discovered that individuals who carry BAP1 mutations are susceptible to developing mesothelioma and melanoma of the eye. This latest discovery builds on this and other research on the BAP1 mutation.


'/>"/>
Contact: Lori Strelow
lstrelow@cc.hawaii.edu
808-356-5753
University of Hawaii Cancer Center
Source:Eurekalert

Related medicine news :

1. Oxford University Press acquires American Journal of Hypertension
2. Queens University Belfast wins national environment award
3. Non-invasive treatment for children with obstructive sleep apnea suggested by Ben-Gurion University study
4. University of Colorado Cancer Center earns major grant to develop new bladder cancer drugs
5. Hospital of the University of Pennsylvania selected to lead US nurse-training initiative
6. University of Pennsylvania and Novartis form alliance to expand use of personalized T cell cancer therapy
7. Boston University researchers expand synthetic biologys toolkit
8. Canadians super-sizing Canadas Food Guide servings: York University study
9. Tel Aviv University researcher says plants can see, smell, feel, and taste
10. Tel Aviv University research links childhood obesity to cancer risk
11. Marshall University scientist awarded NIH grant for lung cancer research
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/26/2016)... ... ... Despite last week’s media reports hinting at a June rate hike after the Federal ... an interest rate increase, according to Rajeev Dhawan of the Economic Forecasting Center at ... Committee (FOMC) dot charts are of interest to the press for their noise potential,” ...
(Date:5/26/2016)... Missouri (PRWEB) , ... May 26, 2016 , ... ... quality and clinical outcomes, hosted members and suppliers for its inaugural Member Conference ... focus on their mission of elevating the operational health of America’s healthcare providers. ...
(Date:5/26/2016)... ... , ... The Woodlands at John Knox Village , Florida’s first Life ... living and healing, celebrated its grand opening, today. The Woodlands at John Knox Village ... Empowered Staff. , “This is an incredibly fulfilling time for John Knox Village as ...
(Date:5/26/2016)... ... 2016 , ... Catalent Pharma Solutions, the leading global provider ... global clinical supply services, today announced two key appointments and the opening of ... strategic growth plans in the Asia Pacific region. , Howard Kim has joined ...
(Date:5/26/2016)... ... May 26, 2016 , ... Memorial Day Weekend marks the unofficial ... is sharing tips to make sure your family and vehicle are ready to ... Council, there may be 439 deaths and an additional 50,500 serious injuries from motor ...
Breaking Medicine News(10 mins):
(Date:5/26/2016)... -- A key trend that will boost ... new treatments. Cardax, a development stage life sciences company, ... is expected to fulfil large unmet medical needs in ... to develop new treatments for osteoarthritis. One such study ... osteoarthritis are being investigated, and early trials of stem-cell ...
(Date:5/26/2016)... May 26, 2016 Since its ... into an essential life science tool for conducting genetic ... BCC Research reveals in its new report that the ... phase, one powered by a range of new applications ...      (Logo: http://photos.prnewswire.com/prnh/20140723/694805 ) , ...
(Date:5/25/2016)... , Deutschland und GERMANTOWN, Maryland ... Zusammenarbeit mit Therawis bedient dringenden ... Brustkrebs   QIAGEN N.V. (NASDAQ: ... heute bekannt, eine Lizenz- und Entwicklungsvereinbarung mit Therawis ... für die Onkologie eingegangen zu sein. Ein erstes ...
Breaking Medicine Technology: