Article
Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases.
Genes, chromosomes & cancer - 1 Feb 2014
Pilarski Robert, Cebulla Colleen M, Massengill James B, Rai Karan, Rich Thereasa, Strong Louise, McGillivray Barbara, Asrat Mary-Jill, Davidorf Frederick H, Abdel-Rahman Mohamed H
Abstract excerpt
The clinical phenotype of BAP1 hereditary cancer predisposition syndrome (MIM 614327) includes uveal melanoma (UM), cutaneous melanoma (CM), renal cell carcinoma (RCC), and mesothelioma. However, the frequency of the syndrome in patients with UM and the association with other cancers are still not clear. In this study, we screened 46 previously untested, unrelated UM patients with high risk for hereditary cancer...
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