Publication date: Available online 22 December 2015 Source:Cancer Genetics Author(s): Kevin McDonnell, Gregory T. Gallanis, Kathleen A. Heller, Eleni-Marina Melas, Gregory Idos, Julie O. Culver, Sue-Ellen Martin, David H. Peng, Stephen B. Gruber 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...
from MedWorm: Mesothelioma http://www.medworm.com/index.php?rid=159910947&cid=c_409_6_f&fid=39976&url=http%3A%2F%2Frss.sciencedirect.com%2Faction%2FredirectFile%3F%26zone%3Dmain%26currentActivity%3Dfeed%26usageType%3Doutward%26url%3Dhttp%253A%252F%252Fwww.sciencedirect.com%252Fscience%253F_ob%253DGatewayURL%2526_origin%253DIRSSSEARCH%2526_method%253DcitationSearch%2526_piikey%253DS2210776215002550%2526_version%253D1%2526md5%253D44eb2e44f3822ecab4789e4e2122bb9c
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