The DOI matches its Crossref record; 15 of the 15 references it cites were found in a registry or an index.
Germline BAP1 Inactivation Is Preferentially Associated with Metastatic Ocular Melanoma and Cutaneous-Ocular Melanoma Families
Open accessAbstract
BACKGROUND: BAP1 has been shown to be a target of both somatic alteration in high-risk ocular melanomas (OM) and germline inactivation in a few individuals from cancer-prone families. These findings suggest that constitutional BAP1 changes may predispose individuals to metastatic OM and that familial permeation of deleterious alleles could delineate a new cancer syndrome. DESIGN: To characterize BAP1's contribution to melanoma risk, we sequenced BAP1 in a set of 100 patients with OM, including 50 metastatic OM cases and 50 matched non-metastatic OM controls, and 200 individuals with cutaneous melanoma (CM) including 7 CM patients from CM-OM families and 193 CM patients from CM-non-OM kindreds. RESULTS: Germline BAP1 mutations were detected in 4/50 patients with metastatic OM and 0/50 cases of non-metastatic OM (8% vs. 0%, p = 0.059). Since 2/4 of the BAP1 carriers reported a family history of CM, we analyzed 200 additional hereditary CM patients and found mutations in 2/7 CM probands from CM-OM families and 1/193 probands from CM-non-OM kindreds (29% vs. 0.52%, p = .003). Germline mutations co-segregated with both CM and OM phenotypes and were associated with the presence of unique nevoid melanomas and highly atypical nevoid melanoma-like melanocytic proliferations (NEMMPs). Interestingly, 7/14 germline variants identified to date reside in C-terminus suggesting that the BRCA1 binding domain is important in cancer predisposition. CONCLUSION: Germline BAP1 mutations are associated with a more aggressive OM phenotype and a recurrent phenotypic complex of cutaneous/ocular melanoma, atypical melanocytic proliferations and other internal neoplasms (ie. COMMON syndrome), which could be a useful clinical marker for constitutive BAP1 inactivation.
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Cites
Mutations in GNA11 in Uveal Melanoma
Van Raamsdonk, C. D., Griewank, K. G., Crosby, M. B., Garrido, M. C., Vemula, S., Wiesner, T., Obenauf, A. C., Wackernagel, W., Green, G., Bouvier, N., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1000584 · Cited by 1,476
Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas
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Germline BAP1 Mutations Predispose to Malignant Mesothelioma
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Germline mutations in BAP1 predispose to melanocytic tumors
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Identification of Aneuploidy-Tolerating Mutations
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An Emerging Model for BAP1’s Role in Regulating Cell Cycle Progression
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Cited by
Guidelines of care for the management of primary cutaneous melanoma
Bichakjian, C. K., Halpern, A. C., Johnson, T. M., Foote Hood, A., Grichnik, J. M., Swetter, S. M., Tsao, H., Barbosa, V. H., Chuang, T.-Y., Duvic, M., et al. (2011) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2011.04.031 · Cited by 616
Self-citationCarbone, M., Yang, H., Pass, H. I., Krausz, T., Testa, J. R., & Gaudino, G. (2013) · Nature Reviews Cancer · doi:10.1038/nrc3459 · Cited by 590
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
BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs
Carbone, M., Ferris, L. K., Baumann, F., Napolitano, A., Lum, C. A., Flores, E. G., Gaudino, G., Powers, A., Bryant-Greenwood, P., Krausz, T., et al. (2012) · Journal of Translational Medicine · doi:10.1186/1479-5876-10-179 · Cited by 323
Metadata
- Authors
- Njauw, C.-N. J., Kim, I., Piris, A., Gabree, M., Taylor, M., Lane, A. M., DeAngelis, M. M., Gragoudas, E., Duncan, L. M., & Tsao, H.
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2012-04-24
- Volume
- 7
- Issue
- 4
- Pages
- e35295
- ISSN
- 1932-6203 (ISSN-L)
- OpenAlex
- W2008954479
- Cited by
- 254
- References
- 15
- FWCI
- 27.07
- Type
- journal article
- Language
- en
- Open access
- gold
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- Njauw, C.-N. J., Kim, I., Piris, A., Gabree, M., Taylor, M., Lane, A. M., DeAngelis, M. M., Gragoudas, E., Duncan, L. M., & Tsao, H. (2012). Germline BAP1 Inactivation Is Preferentially Associated with Metastatic Ocular Melanoma and Cutaneous-Ocular Melanoma Families. PLoS ONE. https://doi.org/10.1371/journal.pone.0035295
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