Two new studies describe germline mutations in BAP1 in putatively dissimilar cancer-related syndromes. The spectrum of neoplasms associated with these germline mutations suggest that BAP1 has an important tumor suppressor function in multiple tissues.
References
Harbour, J.W. et al. Science 330, 1410–1413 (2010).
Bott, M. et al. Nat. Genet. 43, 668–672 (2011).
Wiesner, T. et al. Nat. Genet. 43, 1018–1021 (2011).
Testa, J.R. et al. Nat. Genet. 43, 1022–1025 (2011).
Forbes, S.A. et al. Curr. Protoc. Hum. Genet. 57, 10.11.1–10.18.27 (2008).
Forbes, S.A. et al. Nucleic Acids Res. 39, D945–D950 (2011).
Jensen, D.E. et al. Oncogene 16, 1097–1112 (1998).
Buchhagen, D.L., Qiu, L. & Etkind, P. Int. J. Cancer 57, 473–479 (1994).
Thiberville, L. et al. Int. J. Cancer 64, 371–377 (1995).
Wood, L.D. et al. Science 318, 1108–1113 (2007).
Ventii, K.H. et al. Cancer Res. 68, 6953–6962 (2008).
Machida, Y.J., Machida, Y., Vashisht, A.A., Wohlschlegel, J.A. & Dutta, A. J. Biol. Chem. 284, 34179–34188 (2009).
Matsuoka, S. et al. Science 316, 1160–1166 (2007).
Scheuermann, J.C. et al. Nature 465, 243–247 (2010).
Stokes, M.P. et al. Proc. Natl. Acad. Sci. USA 104, 19855–19860 (2007).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The author declares no competing financial interests.
Rights and permissions
About this article
Cite this article
Goldstein, A. Germline BAP1 mutations and tumor susceptibility. Nat Genet 43, 925–926 (2011). https://doi.org/10.1038/ng.956
Published:
Issue Date:
DOI: https://doi.org/10.1038/ng.956
- Springer Nature America, Inc.
This article is cited by
-
Deficiency of BAP1 inhibits neuroblastoma tumorigenesis through destabilization of MYCN
Cell Death & Disease (2023)
-
H2A monoubiquitination: insights from human genetics and animal models
Human Genetics (2023)
-
Roles and mechanisms of BAP1 deubiquitinase in tumor suppression
Cell Death & Differentiation (2021)
-
Polycomb group-mediated histone H2A monoubiquitination in epigenome regulation and nuclear processes
Nature Communications (2020)
-
BAP1/ASXL1 recruitment and activation for H2A deubiquitination
Nature Communications (2016)