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Expert Review of Dermatology Volume 8, 2013 - Issue 2
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Editorial

Could testing for BAP1 germline mutations be a useful tool for early melanoma diagnosis?

Laura K Ferris Department of Dermatology, University of Pittsburgh Medical Center, University of Pittsburgh, Pittsburgh, PA, USA
,
Erine A Kupetsky Department of Dermatology, University of Pittsburgh Medical Center, University of Pittsburgh, Pittsburgh, PA, USA
,
Michele Carbone University of Hawaii Cancer Center, Department of Pathology, John A Burns School of Medicine, University of Hawaii, 701 Ilalo St, 4R Rm 439, Honolulu, HI 96813, USA. [email protected]
&
Haining Yang University of Hawaii Cancer Center, Department of Pathology, John A Burns School of Medicine, University of Hawaii, 701 Ilalo St, 4R Rm 439, Honolulu, HI 96813, USA. [email protected]
Pages 107-109 | Published online: 10 Jan 2014

References

  • Jensen DE, Proctor M, Marquis ST et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene 16(9), 1097–1112 (1998).
  • Yu H, Mashtalir N, Daou S et al. The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression. Mol. Cell. Biol. 30(21), 5071–5085 (2010).
  • Testa JR, Cheung M, Pei J et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat. Genet. 43(10), 1022–1025 (2011).
  • Bott M, Brevet M, Taylor BS et al. The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma. Nat. Genet. 43(7), 668–672 (2011).
  • Njauw CN, Kim I, Piris A et al. Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families. PLoS ONE 7(4), e35295 (2012).
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  • Abdel-Rahman MH, Pilarski R, Cebulla CM et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J. Med. Genet. 48(12), 856–859 (2011).
  • Wiesner T, Obenauf AC, Murali R et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat. Genet. 43(10), 1018–1021 (2011).
  • Carbone M, Ferris LK, Baumann F et al. BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J. Transl. Med. 10, 179 (2012).
  • Wiesner T, Fried I, Ulz P et al. Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations. J. Clin. Oncol. 30(32), e337–e340 (2012).
  • Wiesner T, Murali R, Fried I et al. A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression. Am. J. Surg. Pathol. 36(6), 818–830 (2012).
  • Dey A, Seshasayee D, Noubade R et al. Loss of the tumor suppressor BAP1 causes myeloid transformation. Science 337(6101), 1541–1546 (2012).

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