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BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs
Open accessAbstract
BACKGROUND: BRCA1-associated protein 1 (BAP1) is a tumor suppressor gene located on chromosome 3p21. Germline BAP1 mutations have been recently associated with an increased risk of malignant mesothelioma, atypical melanocytic tumors and other neoplasms. To answer the question if different germline BAP1 mutations may predispose to a single syndrome with a wide phenotypic range or to distinct syndromes, we investigated the presence of melanocytic tumors in two unrelated families (L and W) with germline BAP1 mutations and increased risk of malignant mesothelioma. METHODS: Suspicious cutaneous lesions were clinically and pathologically characterized and compared to those present in other families carrying BAP1 mutations. We then conducted a meta-analysis of all the studies reporting BAP1-mutated families to survey cancer risk related to the germline BAP1 mutation (means were compared using t-test and proportions were compared with Pearson χ2 test or two-tailed Fisher's exact test). RESULTS: Melanocytic tumors: of the five members of the L family studied, four (80%) carried a germline BAP1 mutation (p.Gln684*) and also presented one or more atypical melanocytic tumors; of the seven members of W family studied, all carried a germline BAP1 mutation (p.Pro147fs*48) and four of them (57%) presented one or more atypical melanocytic tumors, that we propose to call "melanocytic BAP1-mutated atypical intradermal tumors" (MBAITs). Meta-analysis: 118 individuals from seven unrelated families were selected and divided into a BAP1-mutated cohort and a BAP1-non-mutated cohort. Malignant mesothelioma, uveal melanoma, cutaneous melanoma, and MBAITs prevalence was significantly higher in the BAP1-mutated cohort (p ≤ 0.001). CONCLUSIONS: Germline BAP1 mutations are associated with a novel cancer syndrome characterized by malignant mesothelioma, uveal melanoma, cutaneous melanoma and MBAITs, and possibly by other cancers. MBAITs provide physicians with a marker to identify individuals who may carry germline BAP1 mutations and thus are at high risk of developing associated cancers.
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Cites
Germline BAP1 Mutations Predispose to Malignant Mesothelioma
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Self-citationHistone H2A deubiquitinase activity of the Polycomb repressive complex PR-DUB
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Germline mutations in BAP1 predispose to melanocytic tumors
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Inherited Susceptibility to Common Cancers
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Integrative Molecular Characterization of Malignant Pleural Mesothelioma
Hmeljak, J., Sanchez-Vega, F., Hoadley, K. A., Shih, J., Stewart, C., Heiman, D., Tarpey, P., Danilova, L., Drill, E., Gibb, E. A., et al. (2018) · Cancer Discovery · doi:10.1158/2159-8290.cd-18-0804 · Cited by 618
Self-citationGuidelines 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
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
Self-citationIntegrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth
Mody, R. J., Wu, Y.-M., Lonigro, R. J., Cao, X., Roychowdhury, S., Vats, P., Frank, K. M., Prensner, J. R., Asangani, I., Palanisamy, N., et al. (2015) · JAMA · doi:10.1001/jama.2015.10080 · Cited by 411
Mesothelioma: Scientific clues for prevention, diagnosis, and therapy
Carbone, M., Adusumilli, P. S., Alexander, H. R., Baas, P., Bardelli, F., Bononi, A., Bueno, R., Felley‐Bosco, E., Galateau‐Salle, F., Jablons, D., et al. (2019) · CA: A Cancer Journal for Clinicians · doi:10.3322/caac.21572 · Cited by 335
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Metadata
- Authors
- Carbone, M., Ferris, L. K., Baumann, F., Napolitano, A., Lum, C. A., Flores, E. G., Gaudino, G., Powers, A., Bryant-Greenwood, P., Krausz, T., Hyjek, E., Tate, R., Friedberg, J., Weigel, T., Pass, H. I., & Yang, H.
- Venue
- Journal of Translational Medicine
- Published
- 2012-08-30
- Volume
- 10
- Issue
- 1
- Pages
- 179-179
- ISSN
- 1479-5876 (ISSN-L)
- OpenAlex
- W2096469206
- Cited by
- 323
- References
- 12
- FWCI
- 15.24
- Type
- journal article
- Language
- en
- Open access
- gold
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- Carbone, M., Ferris, L. K., Baumann, F., Napolitano, A., Lum, C. A., Flores, E. G., Gaudino, G., Powers, A., Bryant-Greenwood, P., Krausz, T., Hyjek, E., Tate, R., Friedberg, J., Weigel, T., Pass, H. I., & Yang, H. (2012). BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. Journal of Translational Medicine. https://doi.org/10.1186/1479-5876-10-179
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