In germ line mutations (inherited mutation), the gene is thought to be extremely rare but has some interesting associations with uveal melanoma (melanoma of the eye), renal cell carcinoma (kidney cancer) and an unpigmented nevi (a skin lesion without color). It is thought that approximately 25% of mesothelioma patients will have somatic mutations (those that occur spontaneously). We had an entire session devoted to this at the 2013 Symposium and the full presentation is included with this post.
So why is the BAP1 gene important outside of the research realm?
It is important because we now have a gene that is being researched by a number of studies, all looking to exploit this new discovery. Currently, the research goal of the BAP1 gene is for prevention and early detection of mesothelioma. For example, asbestos exposed individuals who carry this gene can be studied to determine if a cancer signal can be picked up before the development of mesothelioma. The idea is that if you have a germ line mutation, you and your immediate family will be screened for cancers associated with this gene in the hope of picking up an early malignancy. Also, researchers will study ways to turn off this gene, if defective.
To get an even better idea about the role that genetics play in mesothelioma, the article
is an excellent read. Based on research by Dr. Michele Carbone, this article discusses the mesothelioma outbreaks in Turkey and their causes.