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Article

Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers.

Journal of medical genetics - 1 Dec 2011

Abdel-Rahman Mohamed H, Pilarski Robert, Cebulla Colleen M, Massengill James B, Christopher Benjamin N, Boru Getachew, Hovland Peter, Davidorf Frederick H

Abstract excerpt

OBJECTIVE: To investigate the potential contribution of germline sequence alterations in the BAP1 gene in uveal melanoma (UM) patients with possible predisposition to hereditary cancer. DESIGN: 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. RESULTS: Of the 53 UM...

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Identifiers

PMID: 21941004
DOI: 10.1136/jmedgenet-2011-100156
PMCID: PMC3825099

Genes

BAP1

Variants

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