The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
Open accessAbstract
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 patients studied, a single patient was identified with a germline BAP1 truncating mutation, c. 799 C→T (p.Q267X), which segregated in several family members and was associated with UM and other cancers. Biallelic inactivation of BAP1 and decreased BAP1 expression were identified in the UM, lung adenocarcinoma and meningioma tumours from three family members with this germline BAP1 mutation. Germline BAP1 variants of uncertain significance, likely non-pathogenic, were also identified in two additional UM patients. Conclusion: 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.
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Cites
The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1
Machida, Y. J., Machida, Y., Vashisht, A. A., Wohlschlegel, J. A., & Dutta, A. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.046755 · Cited by 274
Cited by
Carbone, M., Yang, H., Pass, H. I., Krausz, T., Testa, J. R., & Gaudino, G. (2013) · Nature Reviews Cancer · doi:10.1038/nrc3459 · Cited by 590
Metastatic disease from uveal melanoma: treatment options and future prospects
Carvajal, R. D., Schwartz, G. K., Tezel, T., Marr, B., Francis, J. H., & Nathan, P. D. (2017) · British Journal of Ophthalmology · doi:10.1136/bjophthalmol-2016-309034 · Cited by 438
Deubiquitylases From Genes to Organism
Clague, M. J., Barsukov, I., Coulson, J. M., Liu, H., Rigden, D. J., & Urbé, S. (2013) · Physiological Reviews · doi:10.1152/physrev.00002.2013 · Cited by 425
BAP1 regulates IP3R3-mediated Ca2+ flux to mitochondria suppressing cell transformation
Bononi, A., Giorgi, C., Patergnani, S., Larson, D., Verbruggen, K., Tanji, M., Pellegrini, L., Signorato, V., Olivetto, F., Pastorino, S., et al. (2017) · Nature · doi:10.1038/nature22798 · Cited by 401
High Incidence of Somatic BAP1 Alterations in Sporadic Malignant Mesothelioma
Nasu, M., Emi, M., Pastorino, S., Tanji, M., Powers, A., Luk, H., Baumann, F., Zhang, Y.-A., Gazdar, A., Kanodia, S., et al. (2015) · Journal of Thoracic Oncology · doi:10.1097/jto.0000000000000471 · Cited by 326
Metadata
- Authors
- Abdel-Rahman, M. H., Pilarski, R., Cebulla, C. M., Massengill, J. B., Christopher, B. N., Boru, G., Hovland, P., & Davidorf, F. H.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2011-09-22
- Volume
- 48
- Issue
- 12
- Pages
- 856-859
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2147450167
- Cited by
- 487
- References
- 1
- FWCI
- 29.93
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Abdel-Rahman, M. H., Pilarski, R., Cebulla, C. M., Massengill, J. B., Christopher, B. N., Boru, G., Hovland, P., & Davidorf, F. H. (2011). Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. Journal of Medical Genetics. https://doi.org/10.1136/jmedgenet-2011-100156
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