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Germline <i>BAP1</i> mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers

Journal of Medical Genetics · 2011 · Vol. 48(12) · pp. 856–859
Mohamed H. Abdel‐RahmanRobert PilarskiColleen M. CebullaJames B. MassengillBenjamin ChristopherGetachew BoruPeter HovlandFrederick H. Davidorf

Abstract

This study reports a novel hereditary cancer syndrome caused by a germline BAP1 mutation that predisposes patients to UM, lung carcinoma, meningioma, and possibly other cancers. The results indicate that BAP1 is the candidate gene in only a small subset of hereditary UM, suggesting the contribution of other candidate genes.

Ocular Oncology and TreatmentsHistiocytic Disorders and TreatmentsVeterinary Oncology ResearchBAP1GermlineGermline mutationProbandCancer researchAdenocarcinomaCancerMutationLung cancerMelanoma

MeSH terms

Adenocarcinoma of LungUveal MelanomaAdenocarcinomaAdultChromosomes, Human, Pair 3DNA Mutational AnalysisFemaleGenetic TestingHumansLung NeoplasmsMaleMelanomaMeningeal NeoplasmsMeningiomaMiddle Aged

Funding

  • American Cancer Society
Citations
477
FWCI
30.49
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