The information on this site is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. Content within the patient forum is user-generated and has not been reviewed by medical professionals. Other sections of the Melanoma Research Foundation website include information that has been reviewed by medical professionals as appropriate. All medical decisions should be made in consultation with your doctor or other qualified medical professional.
*NOTE* somatic mutations are within the cancer tumor and are quite common. It is believed that a BAP1 germline mutation is not common, but the overall incidence is currently unknown
I have quite an interesting cancer journey. I was diagnosed with uveal (eye) melanoma in June 2015. In August 2015, I had treatment, enucleation (removal of the eye). During recovery, I found out my sister had cholangiocarcinoma, also a rare cancer like uveal melanoma. Unfortunately, my sister succumbed to the disease in February 2016.
In June 2016, during one of my routine surveillance oncology appointments, I was offered to be tested for a BAP1 germline (within my entire body) mutation. Not so surprisingly, I tested positive for the mutation.
BAP1 germline mutation (BAP1-TPDS tumor predisposition syndrome) is a protein on the BRACA1 protein. The mutation is known to cause cutaneous melanoma, uveal melanoma, and mesothelioma. A laundry list of other cancers is also suspected to be caused by a BAP1 germline mutation.
I have participated in quite a few studies (Ohio State University, University of Hawaii, and NIH). Still, there is no known treatment for this syndrome.
I’m hoping to find and connect with anyone else who may have a germline mutation.
The MRF Patient Forum is the oldest and largest online community of people affected by melanoma. It is designed to provide peer support and information to caregivers, patients, family and friends. There is no better place to discuss different parts of your journey with this cancer and find the friends and support resources to make that journey more bearable.
The information on the forum is open and accessible to everyone. To add a new topic or to post a reply, you must be a registered user. Please note that you will be able to post both topics and replies anonymously even though you are logged in. All posts must abide by MRF posting policies.