A novel mutation is associated with melanocytic neoplasms and thyroid cancer

Germline mutations in the tumor suppressor gene, BRCA-1 associated protein (BAP1), underlie a tumor predisposition syndrome characterized by increased risk for numerous cancers including uveal melanoma, melanocytic tumors and mesothelioma, among others. In the present study we report the identification of a novel germline BAP1 mutation, c.1777C>T, which produces a truncated BAP1 protein product and segregates with cancer. Family members with this mutation demonstrated a primary clinical phenotype of autosomal dominant, early-onset melanocytic neoplasms with immunohistochemistry (IHC) of these tumors demonstrating lack of BAP1 protein expression. (Source: Cancer Genetics and Cytogenetics)

from MedWorm: Mesothelioma http://www.medworm.com/index.php?rid=160055475&cid=c_409_50_f&fid=34583&url=http%3A%2F%2Fwww.cancergeneticsjournal.org%2Farticle%2FS2210-7762%2815%2900255-0%2Fabstract%3Frss%3Dyes