article Open AccessTop 1% cited
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‐Rahman✉(The Ohio State University)Robert Pilarski(The Ohio State University)Colleen M. Cebulla(The Ohio State University)James B. Massengill(The Ohio State University)Benjamin Christopher(The Ohio State University)Getachew Boru(The Ohio State University)Peter Hovland(Colorado Retina Center)Frederick H. Davidorf(The Ohio State University)
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
field-weighted impact
References
24
Percentile
100%
vs. same field & year
Citations per year
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References
A simple salting out procedure for extracting DNA from human nucleated cells
Nucleic Acids Research · 1988 · 20,510 citations
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