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Clin Genet. 2016 Mar;89(3):285-94. doi: 10.1111/cge.12630. Epub 2015 Jul 14.

Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases.

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Division of Human Genetics, Department of Internal Medicine and Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA.
Department of Ophthalmology and Visual Science, Havener Eye Institute, The Ohio State University, Columbus, OH, USA.
Department of Pathology, Menoufiya University, Shebin Elkoum, Egypt.


The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a recently identified hereditary cancer syndrome. Germline mutations in this tumor suppressor gene predispose families to the development of various malignancies. The molecular functions of the gene as well as the clinical phenotype of the syndrome are still being clarified. We sought to conduct a comprehensive review of published research into BAP1-TPDS to more thoroughly delineate the clinical implications of germline BAP1 mutations. We also report two additional families with germline BAP1 mutations. Current evidence demonstrates that germline BAP1 mutations predispose families to uveal melanoma, renal cell carcinoma, malignant mesothelioma, cutaneous melanoma, and possibly to a range of other cancers as well. Some of these cancers tend to be more aggressive, have a propensity to metastasize, and onset earlier in life in patients with BAP1 mutations as compared to non-predisposed patients with equivalent cancers. Although further research is necessary, this information can aid in the management, diagnosis, and therapy of these patients and their families, and highlights the importance of genetic counseling.


BAP1; cutaneous melanoma; germline; mesothelioma; renal cell carcinoma; uveal melanoma

[Available on 2017-03-01]
[Indexed for MEDLINE]
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