Article
Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.
Clinical genetics - 1 Mar 2016
Rai K, Pilarski R, Cebulla C M, Abdel-Rahman M H
Abstract excerpt
The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a recently identified hereditary cancer syndrome. Germline mutations in this tumor suppressor gene predispose families to the development of various malignancies. The molecular functions of the gene as well as the clinical phenotype of the syndrome are still being clarified. We sought to conduct a comprehensive review of published...
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