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BAP1 Germline Mutation

Forums Cutaneous Melanoma Community BAP1 Germline Mutation

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      *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

      Hello All,

      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.

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