Unfortunate inheritance
Wednesday, January 18, 2012
According to the findings published in the Journal of Medical Genetics, an inherited mutation in the BAP1 gene causes the disease in a small group of patients. Study leader Dr. Frederick Davidorf says that this gene seems to play an important role in regulating cell growth and proliferation, and that the absence of the gene helps lead to cancer.
This discovery may change how patients are treated. “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,” explains the first author of the article, Dr. Mohamed Abdel-Rahman.
“So far, we've identified about six families with this hereditary syndrome. We are working with researchers at Nationwide Children's Hospital to develop a clinical test to screen for the BAP1 gene mutation,” added Dr. Abdel-Rahman. More extensive research needs to be done to determine which cancers may be linked to this mutation.
Source: http://www.sciencedaily.com/releases/2011/12/111215232718.htm