Ontology highlight
ABSTRACT:
SUBMITTER: Abdel-Rahman MH
PROVIDER: S-EPMC3825099 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Abdel-Rahman Mohamed H MH Pilarski Robert R Cebulla Colleen M CM Massengill James B JB Christopher Benjamin N BN Boru Getachew G Hovland Peter P Davidorf Frederick H FH
Journal of medical genetics 20110922 12
<h4>Objective</h4>To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer.<h4>Design</h4>A total of 53 unrelated UM patients with high risk for hereditary cancer and five additional family members of one proband were studied. Mutational screening was carried out by direct sequencing.<h4>Results</h4>Of the 53 UM patients studied, a single patient was identified with a germline BAP ...[more]