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Volumn 89, Issue 3, 2016, Pages 285-294

Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases

Author keywords

BAP1; Cutaneous melanoma; Germline; Mesothelioma; Renal cell carcinoma; Uveal melanoma

Indexed keywords

BRCA1 ASSOCIATED RING DOMAIN PROTEIN 1; BAP1 PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN; UBIQUITIN THIOLESTERASE;

EID: 84958629420     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12630     Document Type: Review
Times cited : (181)

References (91)
  • 1
    • 84958600538 scopus 로고    scopus 로고
    • ®. Baltimore, MD: Johns Hopkins University: MIM Number: 614327.
    • ®. Baltimore, MD: Johns Hopkins University, 2014: MIM Number: 614327.
    • (2014)
  • 2
    • 84856023369 scopus 로고    scopus 로고
    • Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers
    • 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 2011: 48: 856-859.
    • (2011) J Med Genet , vol.48 , pp. 856-859
    • Abdel-Rahman, M.H.1    Pilarski, R.2    Cebulla, C.M.3
  • 3
    • 80053385701 scopus 로고    scopus 로고
    • Germline BAP1 mutations predispose to malignant mesothelioma
    • Testa JR, Cheung M, Pei J et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet 2011: 43: 1022-1025.
    • (2011) Nat Genet , vol.43 , pp. 1022-1025
    • Testa, J.R.1    Cheung, M.2    Pei, J.3
  • 4
    • 80053386896 scopus 로고    scopus 로고
    • Germline mutations in BAP1 predispose to melanocytic tumors
    • Wiesner T, Obenauf AC, Murali R et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011: 43: 1018-1021.
    • (2011) Nat Genet , vol.43 , pp. 1018-1021
    • Wiesner, T.1    Obenauf, A.C.2    Murali, R.3
  • 5
    • 84878846119 scopus 로고    scopus 로고
    • Germline BAP1 mutations predispose to renal cell carcinomas
    • Popova T, Hebert L, Jacquemin V et al. Germline BAP1 mutations predispose to renal cell carcinomas. Am J Hum Genet 2013: 92: 974-980.
    • (2013) Am J Hum Genet , vol.92 , pp. 974-980
    • Popova, T.1    Hebert, L.2    Jacquemin, V.3
  • 6
    • 15144342687 scopus 로고    scopus 로고
    • BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression
    • 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 1998: 16: 1097-1112.
    • (1998) Oncogene , vol.16 , pp. 1097-1112
    • Jensen, D.E.1    Proctor, M.2    Marquis, S.T.3
  • 7
    • 52049085265 scopus 로고    scopus 로고
    • BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization
    • Ventii KH, Devi NS, Friedrich KL et al. BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res 2008: 68: 6953-6962.
    • (2008) Cancer Res , vol.68 , pp. 6953-6962
    • Ventii, K.H.1    Devi, N.S.2    Friedrich, K.L.3
  • 8
    • 79955934205 scopus 로고    scopus 로고
    • An emerging model for BAP1's role in regulating cell cycle progression
    • Eletr ZM, Wilkinson KD. An emerging model for BAP1's role in regulating cell cycle progression. Cell Biochem Biophys 2011: 60: 3-11.
    • (2011) Cell Biochem Biophys , vol.60 , pp. 3-11
    • Eletr, Z.M.1    Wilkinson, K.D.2
  • 9
    • 84888640837 scopus 로고    scopus 로고
    • BAP1 is phosphorylated at serine 592 in S-phase following DNA damage
    • Eletr ZM, Yin L, Wilkinson KD. BAP1 is phosphorylated at serine 592 in S-phase following DNA damage. FEBS Lett 2013: 587: 3906-3911.
    • (2013) FEBS Lett , vol.587 , pp. 3906-3911
    • Eletr, Z.M.1    Yin, L.2    Wilkinson, K.D.3
  • 10
    • 84891912266 scopus 로고    scopus 로고
    • Tumor suppressor and deubiquitinase BAP1 promotes DNA double-strand break repair
    • Yu H, Pak H, Hammond-Martel I et al. Tumor suppressor and deubiquitinase BAP1 promotes DNA double-strand break repair. Proc Natl Acad Sci USA 2014: 111: 285-290.
    • (2014) Proc Natl Acad Sci USA , vol.111 , pp. 285-290
    • Yu, H.1    Pak, H.2    Hammond-Martel, I.3
  • 11
    • 0033452550 scopus 로고    scopus 로고
    • BAP1, a candidate tumor suppressor protein that interacts with BRCA1
    • Jensen DE, Rauscher FJ 3rd. BAP1, a candidate tumor suppressor protein that interacts with BRCA1. Ann N Y Acad Sci 1999: 886: 191-194.
    • (1999) Ann N Y Acad Sci , vol.886 , pp. 191-194
    • Jensen, D.E.1    Rauscher, F.J.2
  • 12
    • 0010267472 scopus 로고    scopus 로고
    • Defining biochemical functions for the BRCA1 tumor suppressor protein: analysis of the BRCA1 binding protein BAP1
    • Jensen DE, Rauscher FJ 3rd. Defining biochemical functions for the BRCA1 tumor suppressor protein: analysis of the BRCA1 binding protein BAP1. Cancer Lett 1999: 143 (Suppl 1): S13-S17.
    • (1999) Cancer Lett , vol.143 , pp. S13-S17
    • Jensen, D.E.1    Rauscher, F.J.2
  • 14
    • 84873827063 scopus 로고    scopus 로고
    • Tumours associated with BAP1 mutations
    • Murali R, Wiesner T, Scolyer RA. Tumours associated with BAP1 mutations. Pathology 2013: 45: 116-126.
    • (2013) Pathology , vol.45 , pp. 116-126
    • Murali, R.1    Wiesner, T.2    Scolyer, R.A.3
  • 15
    • 84866456618 scopus 로고    scopus 로고
    • Cancer. Emerging anatomy of the BAP1 tumor suppressor system
    • White AE, Harper JW. Cancer. Emerging anatomy of the BAP1 tumor suppressor system. Science 2012: 337: 1463-1464.
    • (2012) Science , vol.337 , pp. 1463-1464
    • White, A.E.1    Harper, J.W.2
  • 16
    • 77957853061 scopus 로고    scopus 로고
    • The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression
    • 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 2010: 30: 5071-5085.
    • (2010) Mol Cell Biol , vol.30 , pp. 5071-5085
    • Yu, H.1    Mashtalir, N.2    Daou, S.3
  • 17
    • 84866467141 scopus 로고    scopus 로고
    • Loss of the tumor suppressor BAP1 causes myeloid transformation
    • Dey A, Seshasayee D, Noubade R et al. Loss of the tumor suppressor BAP1 causes myeloid transformation. Science 2012: 337: 1541-1546.
    • (2012) Science , vol.337 , pp. 1541-1546
    • Dey, A.1    Seshasayee, D.2    Noubade, R.3
  • 18
    • 84890127613 scopus 로고    scopus 로고
    • Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases
    • Pilarski R, Cebulla CM, Massengill JB et al. Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases. Genes Chromosomes Cancer 2014: 53: 177-182.
    • (2014) Genes Chromosomes Cancer , vol.53 , pp. 177-182
    • Pilarski, R.1    Cebulla, C.M.2    Massengill, J.B.3
  • 19
    • 84931837678 scopus 로고    scopus 로고
    • Analysis of BAP1 germline gene mutation in young uveal melanoma patients
    • Cebulla CM, Binkley EM, Pilarski R et al. Analysis of BAP1 germline gene mutation in young uveal melanoma patients. Ophthalmic Genet 2015: 36 (2): 126-131.
    • (2015) Ophthalmic Genet , vol.36 , Issue.2 , pp. 126-131
    • Cebulla, C.M.1    Binkley, E.M.2    Pilarski, R.3
  • 20
    • 84928209346 scopus 로고    scopus 로고
    • Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
    • Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015: 17: 405-423.
    • (2015) Genet Med , vol.17 , pp. 405-423
    • Richards, S.1    Aziz, N.2    Bale, S.3
  • 22
    • 84890378293 scopus 로고    scopus 로고
    • A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers
    • Aoude LG, Wadt K, Bojesen A et al. A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers. PLoS One 2013: 8: e72144.
    • (2013) PLoS One , vol.8 , pp. e72144
    • Aoude, L.G.1    Wadt, K.2    Bojesen, A.3
  • 23
    • 84881234340 scopus 로고    scopus 로고
    • Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma
    • Cheung M, Talarchek J, Schindeler K et al. Further evidence for germline BAP1 mutations predisposing to melanoma and malignant mesothelioma. Cancer Genet 2013: 206: 206-210.
    • (2013) Cancer Genet , vol.206 , pp. 206-210
    • Cheung, M.1    Talarchek, J.2    Schindeler, K.3
  • 24
    • 84938877109 scopus 로고    scopus 로고
    • Germline BAP1 mutations predispose also to multiple basal cell carcinomas
    • Epub 31 July 2014
    • de la Fouchardiere A, Cabaret O, Savin L et al. Germline BAP1 mutations predispose also to multiple basal cell carcinomas. Clin Genet 2014. Epub 31 July 2014. doi: 10.1111/cge.12472.
    • (2014) Clin Genet
    • de la Fouchardiere, A.1    Cabaret, O.2    Savin, L.3
  • 25
    • 84939510430 scopus 로고    scopus 로고
    • Clinical characteristics of uveal melanoma in patients with germline BAP1 mutations
    • Epub 14 May 2015
    • Gupta MP, Lane AM, DeAngelis MM et al. Clinical characteristics of uveal melanoma in patients with germline BAP1 mutations. JAMA Ophthalmol 2015. Epub 14 May 2015. doi: 10.1001/jamaophthalmol.2015.1119.
    • (2015) JAMA Ophthalmol
    • Gupta, M.P.1    Lane, A.M.2    DeAngelis, M.M.3
  • 26
    • 78649700287 scopus 로고    scopus 로고
    • Frequent mutation of BAP1 in metastasizing uveal melanomas
    • Harbour JW, Onken MD, Roberson ED et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 2010: 330: 1410-1413.
    • (2010) Science , vol.330 , pp. 1410-1413
    • Harbour, J.W.1    Onken, M.D.2    Roberson, E.D.3
  • 27
    • 84873725170 scopus 로고    scopus 로고
    • Hereditary uveal melanoma: a report of a germline mutation in BAP1
    • Hoiom V, Edsgard D, Helgadottir H et al. Hereditary uveal melanoma: a report of a germline mutation in BAP1. Genes Chromosomes Cancer 2013: 52: 378-384.
    • (2013) Genes Chromosomes Cancer , vol.52 , pp. 378-384
    • Hoiom, V.1    Edsgard, D.2    Helgadottir, H.3
  • 28
    • 84892601745 scopus 로고    scopus 로고
    • BAP1 germline mutation in two first grade family members with uveal melanoma
    • Maerker DA, Zeschnigk M, Nelles J et al. BAP1 germline mutation in two first grade family members with uveal melanoma. Br J Ophthalmol 2014: 98: 224-227.
    • (2014) Br J Ophthalmol , vol.98 , pp. 224-227
    • Maerker, D.A.1    Zeschnigk, M.2    Nelles, J.3
  • 29
    • 84860142904 scopus 로고    scopus 로고
    • Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families
    • 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 2012: 7: e35295.
    • (2012) PLoS One , vol.7 , pp. e35295
    • Njauw, C.N.1    Kim, I.2    Piris, A.3
  • 30
    • 84867918271 scopus 로고    scopus 로고
    • A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma
    • Wadt K, Choi J, Chung JY et al. A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma. Pigment Cell Melanoma Res 2012: 25: 815-818.
    • (2012) Pigment Cell Melanoma Res , vol.25 , pp. 815-818
    • Wadt, K.1    Choi, J.2    Chung, J.Y.3
  • 31
    • 84938844516 scopus 로고    scopus 로고
    • A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma
    • Epub 15 September 2014
    • Wadt KA, Aoude LG, Johansson P et al. A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clin Genet 2014. Epub 15 September 2014. doi: 10.1111/cge.12501.
    • (2014) Clin Genet
    • Wadt, K.A.1    Aoude, L.G.2    Johansson, P.3
  • 32
    • 80052494912 scopus 로고    scopus 로고
    • Uveal melanoma: trends in incidence, treatment, and survival
    • Singh AD, Turell ME, Topham AK. Uveal melanoma: trends in incidence, treatment, and survival. Ophthalmology 2011: 118: 1881-1885.
    • (2011) Ophthalmology , vol.118 , pp. 1881-1885
    • Singh, A.D.1    Turell, M.E.2    Topham, A.K.3
  • 33
    • 84922337420 scopus 로고    scopus 로고
    • Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area
    • Betti M, Casalone E, Ferrante D et al. Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area. Genes Chromosomes Cancer 2015: 54: 51-62.
    • (2015) Genes Chromosomes Cancer , vol.54 , pp. 51-62
    • Betti, M.1    Casalone, E.2    Ferrante, D.3
  • 34
    • 84881237007 scopus 로고    scopus 로고
    • Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation
    • Ribeiro C, Campelos S, Moura CS, Machado JC, Justino A, Parente B. Well-differentiated papillary mesothelioma: clustering in a Portuguese family with a germline BAP1 mutation. Ann Oncol 2013: 24: 2147-2150.
    • (2013) Ann Oncol , vol.24 , pp. 2147-2150
    • Ribeiro, C.1    Campelos, S.2    Moura, C.S.3    Machado, J.C.4    Justino, A.5    Parente, B.6
  • 35
    • 84869417534 scopus 로고    scopus 로고
    • Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations
    • Wiesner T, Fried I, Ulz P et al. Toward an improved definition of the tumor spectrum associated with BAP1 germline mutations. J Clin Oncol 2012: 30: e337-e340.
    • (2012) J Clin Oncol , vol.30 , pp. e337-e340
    • Wiesner, T.1    Fried, I.2    Ulz, P.3
  • 36
    • 33846436108 scopus 로고    scopus 로고
    • Cancer statistics, trends, and multiple primary cancer analyses from the Surveillance, Epidemiology, and End Results (SEER) Program
    • Hayat MJ, Howlader N, Reichman ME, Edwards BK. Cancer statistics, trends, and multiple primary cancer analyses from the Surveillance, Epidemiology, and End Results (SEER) Program. Oncologist 2007: 12: 20-37.
    • (2007) Oncologist , vol.12 , pp. 20-37
    • Hayat, M.J.1    Howlader, N.2    Reichman, M.E.3    Edwards, B.K.4
  • 37
    • 84958617281 scopus 로고    scopus 로고
    • In: National Cancer Institute D, Surveillance Research Program, Surveillance Systems Branch, ed.
    • Surveillance, Epidemiology, and End Results (SEER) Program. In: National Cancer Institute D, Surveillance Research Program, Surveillance Systems Branch, ed., 2013.
    • (2013)
  • 38
    • 84884497841 scopus 로고    scopus 로고
    • A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma
    • Farley MN, Schmidt LS, Mester JL et al. A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma. Mol Cancer Res 2013: 11: 1061-1071.
    • (2013) Mol Cancer Res , vol.11 , pp. 1061-1071
    • Farley, M.N.1    Schmidt, L.S.2    Mester, J.L.3
  • 39
    • 84887620736 scopus 로고    scopus 로고
    • Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma
    • Gossage L, Murtaza M, Slatter AF et al. Clinical and pathological impact of VHL, PBRM1, BAP1, SETD2, KDM6A, and JARID1c in clear cell renal cell carcinoma. Genes Chromosomes Cancer 2014: 53: 38-51.
    • (2014) Genes Chromosomes Cancer , vol.53 , pp. 38-51
    • Gossage, L.1    Murtaza, M.2    Slatter, A.F.3
  • 40
    • 84862988411 scopus 로고    scopus 로고
    • BAP1 loss defines a new class of renal cell carcinoma
    • Pena-Llopis S, Vega-Rubin-de-Celis S, Liao A et al. BAP1 loss defines a new class of renal cell carcinoma. Nat Genet 2012: 44: 751-759.
    • (2012) Nat Genet , vol.44 , pp. 751-759
    • Pena-Llopis, S.1    Vega-Rubin-de-Celis, S.2    Liao, A.3
  • 41
    • 2942615272 scopus 로고    scopus 로고
    • The epidemiology of cholangiocarcinoma
    • Shaib Y, El-Serag HB. The epidemiology of cholangiocarcinoma. Semin Liver Dis 2004: 24: 115-125.
    • (2004) Semin Liver Dis , vol.24 , pp. 115-125
    • Shaib, Y.1    El-Serag, H.B.2
  • 42
    • 84929706460 scopus 로고    scopus 로고
    • Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome
    • de la Fouchardiere A, Cabaret O, Petre J et al. Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome. Acta Neuropathol 2015: 129: 921-923.
    • (2015) Acta Neuropathol , vol.129 , pp. 921-923
    • de la Fouchardiere, A.1    Cabaret, O.2    Petre, J.3
  • 43
    • 84929620816 scopus 로고    scopus 로고
    • CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2007-2011
    • Ostrom QT, Gittleman H, Liao P et al. CBTRUS statistical report: primary brain and central nervous system tumors diagnosed in the United States in 2007-2011. Neuro Oncol 2014: 16 (Suppl 4): iv1-iv63.
    • (2014) Neuro Oncol , vol.16 , pp. iv1-iv63
    • Ostrom, Q.T.1    Gittleman, H.2    Liao, P.3
  • 44
    • 78651330430 scopus 로고    scopus 로고
    • COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer
    • Forbes SA, Bindal N, Bamford S et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res 2011: 39: D945-D950.
    • (2011) Nucleic Acids Res , vol.39 , pp. D945-D950
    • Forbes, S.A.1    Bindal, N.2    Bamford, S.3
  • 45
    • 84909988100 scopus 로고    scopus 로고
    • Lack of BAP1 protein expression in uveal melanoma is associated with increased metastatic risk and has utility in routine prognostic testing
    • Kalirai H, Dodson A, Faqir S, Damato BE, Coupland SE. Lack of BAP1 protein expression in uveal melanoma is associated with increased metastatic risk and has utility in routine prognostic testing. Br J Cancer 2014: 111: 1373-1380.
    • (2014) Br J Cancer , vol.111 , pp. 1373-1380
    • Kalirai, H.1    Dodson, A.2    Faqir, S.3    Damato, B.E.4    Coupland, S.E.5
  • 46
    • 84930352872 scopus 로고    scopus 로고
    • Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma
    • Koopmans AE, Verdijk RM, Brouwer RW et al. Clinical significance of immunohistochemistry for detection of BAP1 mutations in uveal melanoma. Mod Pathol 2014: 27: 1321-1330.
    • (2014) Mod Pathol , vol.27 , pp. 1321-1330
    • Koopmans, A.E.1    Verdijk, R.M.2    Brouwer, R.W.3
  • 47
    • 84896780820 scopus 로고    scopus 로고
    • BAP1 protein loss by immunohistochemistry: a potentially useful tool for prognostic prediction in patients with uveal melanoma
    • Shah AA, Bourne TD, Murali R. BAP1 protein loss by immunohistochemistry: a potentially useful tool for prognostic prediction in patients with uveal melanoma. Pathology 2013: 45: 651-656.
    • (2013) Pathology , vol.45 , pp. 651-656
    • Shah, A.A.1    Bourne, T.D.2    Murali, R.3
  • 48
    • 34447333890 scopus 로고    scopus 로고
    • Epidemiology of peritoneal mesothelioma: a review
    • Boffetta P. Epidemiology of peritoneal mesothelioma: a review. Ann Oncol 2007: 18: 985-990.
    • (2007) Ann Oncol , vol.18 , pp. 985-990
    • Boffetta, P.1
  • 50
    • 84928805318 scopus 로고    scopus 로고
    • BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma
    • Alakus H, Yost SE, Woo B et al. BAP1 mutation is a frequent somatic event in peritoneal malignant mesothelioma. J Transl Med 2015: 13: 122.
    • (2015) J Transl Med , vol.13 , pp. 122
    • Alakus, H.1    Yost, S.E.2    Woo, B.3
  • 51
    • 79959694149 scopus 로고    scopus 로고
    • The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma
    • 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 2011: 43: 668-672.
    • (2011) Nat Genet , vol.43 , pp. 668-672
    • Bott, M.1    Brevet, M.2    Taylor, B.S.3
  • 52
    • 84938286152 scopus 로고    scopus 로고
    • High Incidence of Somatic BAP1 alterations in sporadic malignant mesothelioma
    • Nasu M, Emi M, Pastorino S et al. High Incidence of Somatic BAP1 alterations in sporadic malignant mesothelioma. J Thorac Oncol 2015: 10: 565-576.
    • (2015) J Thorac Oncol , vol.10 , pp. 565-576
    • Nasu, M.1    Emi, M.2    Pastorino, S.3
  • 53
    • 84887969024 scopus 로고    scopus 로고
    • BAP1 expression in cutaneous melanoma: a pilot study
    • Murali R, Wilmott JS, Jakrot V et al. BAP1 expression in cutaneous melanoma: a pilot study. Pathology 2013: 45: 606-609.
    • (2013) Pathology , vol.45 , pp. 606-609
    • Murali, R.1    Wilmott, J.S.2    Jakrot, V.3
  • 54
    • 84920876186 scopus 로고    scopus 로고
    • BAP1 and BRAFV600E expression in benign and malignant melanocytic proliferations
    • Piris A, Mihm MC Jr, Hoang MP. BAP1 and BRAFV600E expression in benign and malignant melanocytic proliferations. Hum Pathol 2015: 46: 239-245.
    • (2015) Hum Pathol , vol.46 , pp. 239-245
    • Piris, A.1    Mihm, M.C.2    Hoang, M.P.3
  • 55
    • 84876037266 scopus 로고    scopus 로고
    • Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma
    • Hakimi AA, Chen YB, Wren J et al. Clinical and pathologic impact of select chromatin-modulating tumor suppressors in clear cell renal cell carcinoma. Eur Urol 2013: 63: 848-854.
    • (2013) Eur Urol , vol.63 , pp. 848-854
    • Hakimi, A.A.1    Chen, Y.B.2    Wren, J.3
  • 56
    • 84879466482 scopus 로고    scopus 로고
    • Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network
    • Hakimi AA, Ostrovnaya I, Reva B et al. Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network. Clin Cancer Res 2013: 19: 3259-3267.
    • (2013) Clin Cancer Res , vol.19 , pp. 3259-3267
    • Hakimi, A.A.1    Ostrovnaya, I.2    Reva, B.3
  • 57
    • 84922590453 scopus 로고    scopus 로고
    • Loss of PBRM1 and BAP1 expression is less common in non-clear cell renal cell carcinoma than in clear cell renal cell carcinoma
    • Ho TH, Kapur P, Joseph RW et al. Loss of PBRM1 and BAP1 expression is less common in non-clear cell renal cell carcinoma than in clear cell renal cell carcinoma. Urol Oncol 2015: 33: 23 e29-14.
    • (2015) Urol Oncol , vol.33 , pp. 23 e29-23 e14
    • Ho, T.H.1    Kapur, P.2    Joseph, R.W.3
  • 58
    • 84899421896 scopus 로고    scopus 로고
    • Loss of BAP1 protein expression is an independent marker of poor prognosis in patients with low-risk clear cell renal cell carcinoma
    • Joseph RW, Kapur P, Serie DJ et al. Loss of BAP1 protein expression is an independent marker of poor prognosis in patients with low-risk clear cell renal cell carcinoma. Cancer 2014: 120: 1059-1067.
    • (2014) Cancer , vol.120 , pp. 1059-1067
    • Joseph, R.W.1    Kapur, P.2    Serie, D.J.3
  • 59
    • 84893845225 scopus 로고    scopus 로고
    • BAP1 immunohistochemistry predicts outcomes in a multi-institutional cohort with clear cell renal cell carcinoma
    • Kapur P, Christie A, Raman JD et al. BAP1 immunohistochemistry predicts outcomes in a multi-institutional cohort with clear cell renal cell carcinoma. J Urol 2014: 191: 603-610.
    • (2014) J Urol , vol.191 , pp. 603-610
    • Kapur, P.1    Christie, A.2    Raman, J.D.3
  • 60
    • 84938981457 scopus 로고    scopus 로고
    • Radiogenomics of clear cell renal cell carcinoma: preliminary findings of The Cancer Genome Atlas-Renal Cell Carcinoma (TCGA-RCC) Imaging Research Group
    • Epub 10 March 2015.
    • Shinagare AB, Vikram R, Jaffe C et al. Radiogenomics of clear cell renal cell carcinoma: preliminary findings of The Cancer Genome Atlas-Renal Cell Carcinoma (TCGA-RCC) Imaging Research Group. Abdom Imaging 2015. Epub 10 March 2015.
    • (2015) Abdom Imaging
    • Shinagare, A.B.1    Vikram, R.2    Jaffe, C.3
  • 61
    • 84865461263 scopus 로고    scopus 로고
    • BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs
    • Carbone M, Ferris LK, Baumann F et al. BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med 2012: 10: 179.
    • (2012) J Transl Med , vol.10 , pp. 179
    • Carbone, M.1    Ferris, L.K.2    Baumann, F.3
  • 63
    • 84861233188 scopus 로고    scopus 로고
    • A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression
    • 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 2012: 36: 818-830.
    • (2012) Am J Surg Pathol , vol.36 , pp. 818-830
    • Wiesner, T.1    Murali, R.2    Fried, I.3
  • 65
    • 84875391417 scopus 로고    scopus 로고
    • Multiple epithelioid Spitz nevi or tumors with loss of BAP1 expression: a clue to a hereditary tumor syndrome
    • Busam KJ, Wanna M, Wiesner T. Multiple epithelioid Spitz nevi or tumors with loss of BAP1 expression: a clue to a hereditary tumor syndrome. JAMA Dermatol 2013: 149: 335-339.
    • (2013) JAMA Dermatol , vol.149 , pp. 335-339
    • Busam, K.J.1    Wanna, M.2    Wiesner, T.3
  • 66
    • 84872867965 scopus 로고    scopus 로고
    • Combined BRAF(V600E)-positive melanocytic lesions with large epithelioid cells lacking BAP1 expression and conventional nevomelanocytes
    • Busam KJ, Sung J, Wiesner T, von Deimling A, Jungbluth A. Combined BRAF(V600E)-positive melanocytic lesions with large epithelioid cells lacking BAP1 expression and conventional nevomelanocytes. Am J Surg Pathol 2013: 37: 193-199.
    • (2013) Am J Surg Pathol , vol.37 , pp. 193-199
    • Busam, K.J.1    Sung, J.2    Wiesner, T.3    von Deimling, A.4    Jungbluth, A.5
  • 67
    • 84888385562 scopus 로고    scopus 로고
    • Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers
    • Chan-On W, Nairismagi ML, Ong CK et al. Exome sequencing identifies distinct mutational patterns in liver fluke-related and non-infection-related bile duct cancers. Nat Genet 2013: 45: 1474-1478.
    • (2013) Nat Genet , vol.45 , pp. 1474-1478
    • Chan-On, W.1    Nairismagi, M.L.2    Ong, C.K.3
  • 68
    • 84919800397 scopus 로고    scopus 로고
    • Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications
    • Churi CR, Shroff R, Wang Y et al. Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications. PLoS One 2014: 9: e115383.
    • (2014) PLoS One , vol.9 , pp. e115383
    • Churi, C.R.1    Shroff, R.2    Wang, Y.3
  • 69
    • 84866173953 scopus 로고    scopus 로고
    • Somatic mutation of a tumor suppressor gene BAP1 is rare in breast, prostate, gastric and colorectal cancers
    • Je EM, Lee SH, Yoo NJ. Somatic mutation of a tumor suppressor gene BAP1 is rare in breast, prostate, gastric and colorectal cancers. APMIS 2012: 120: 855-856.
    • (2012) APMIS , vol.120 , pp. 855-856
    • Je, E.M.1    Lee, S.H.2    Yoo, N.J.3
  • 70
    • 84964313795 scopus 로고    scopus 로고
    • Diverse modes of genomic alteration in hepatocellular carcinoma
    • Jhunjhunwala S, Jiang Z, Stawiski EW et al. Diverse modes of genomic alteration in hepatocellular carcinoma. Genome Biol 2014: 15: 436.
    • (2014) Genome Biol , vol.15 , pp. 436
    • Jhunjhunwala, S.1    Jiang, Z.2    Stawiski, E.W.3
  • 71
    • 84888353882 scopus 로고    scopus 로고
    • Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas
    • Jiao Y, Pawlik TM, Anders RA et al. Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. Nat Genet 2013: 45: 1470-1473.
    • (2013) Nat Genet , vol.45 , pp. 1470-1473
    • Jiao, Y.1    Pawlik, T.M.2    Anders, R.A.3
  • 72
    • 84925436919 scopus 로고    scopus 로고
    • Uveal melanoma hepatic metastases mutation spectrum analysis using targeted next-generation sequencing of 400 cancer genes
    • Luscan A, Just PA, Briand A et al. Uveal melanoma hepatic metastases mutation spectrum analysis using targeted next-generation sequencing of 400 cancer genes. Br J Ophthalmol 2015: 99(4): 437-439.
    • (2015) Br J Ophthalmol , vol.99 , Issue.4 , pp. 437-439
    • Luscan, A.1    Just, P.A.2    Briand, A.3
  • 73
    • 84937965451 scopus 로고    scopus 로고
    • Loss of BAP1 expression in basal cell carcinomas in patients with germline BAP1 mutations
    • Mochel MC, Piris A, Nose V, Hoang MP. Loss of BAP1 expression in basal cell carcinomas in patients with germline BAP1 mutations. Am J Clin Pathol 2015: 143: 901-904.
    • (2015) Am J Clin Pathol , vol.143 , pp. 901-904
    • Mochel, M.C.1    Piris, A.2    Nose, V.3    Hoang, M.P.4
  • 74
    • 84901191451 scopus 로고    scopus 로고
    • Multigene mutational profiling of cholangiocarcinomas identifies actionable molecular subgroups
    • Simbolo M, Fassan M, Ruzzenente A et al. Multigene mutational profiling of cholangiocarcinomas identifies actionable molecular subgroups. Oncotarget 2014: 5: 2839-2852.
    • (2014) Oncotarget , vol.5 , pp. 2839-2852
    • Simbolo, M.1    Fassan, M.2    Ruzzenente, A.3
  • 75
    • 84875202484 scopus 로고    scopus 로고
    • Prognostic significance of BRCA1-associated protein 1 in colorectal cancer
    • Tang J, Xi S, Wang G et al. Prognostic significance of BRCA1-associated protein 1 in colorectal cancer. Med Oncol 2013: 30: 541.
    • (2013) Med Oncol , vol.30 , pp. 541
    • Tang, J.1    Xi, S.2    Wang, G.3
  • 77
    • 63149169887 scopus 로고    scopus 로고
    • Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian families with high risk of breast cancer
    • Guenard F, Labrie Y, Ouellette G, Beauparlant CJ, Durocher F, INHERIT BRCAs. Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian families with high risk of breast cancer. J Hum Genet 2009: 54: 152-161.
    • (2009) J Hum Genet , vol.54 , pp. 152-161
    • Guenard, F.1    Labrie, Y.2    Ouellette, G.3    Beauparlant, C.J.4    Durocher, F.5
  • 78
    • 84893482700 scopus 로고    scopus 로고
    • Radiogenomics of clear cell renal cell carcinoma: associations between CT imaging features and mutations
    • Karlo CA, Di Paolo PL, Chaim J et al. Radiogenomics of clear cell renal cell carcinoma: associations between CT imaging features and mutations. Radiology 2014: 270: 464-471.
    • (2014) Radiology , vol.270 , pp. 464-471
    • Karlo, C.A.1    Di Paolo, P.L.2    Chaim, J.3
  • 79
    • 84873081430 scopus 로고    scopus 로고
    • Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation
    • Kapur P, Pena-Llopis S, Christie A et al. Effects on survival of BAP1 and PBRM1 mutations in sporadic clear-cell renal-cell carcinoma: a retrospective analysis with independent validation. Lancet Oncol 2013: 14: 159-167.
    • (2013) Lancet Oncol , vol.14 , pp. 159-167
    • Kapur, P.1    Pena-Llopis, S.2    Christie, A.3
  • 80
    • 84925442599 scopus 로고    scopus 로고
    • BAP1 has a survival role in cutaneous melanoma
    • Kumar R, Taylor M, Miao B et al. BAP1 has a survival role in cutaneous melanoma. J Invest Dermatol 2015: 135: 1089-1097.
    • (2015) J Invest Dermatol , vol.135 , pp. 1089-1097
    • Kumar, R.1    Taylor, M.2    Miao, B.3
  • 81
    • 85003053479 scopus 로고    scopus 로고
    • Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survival
    • Baumann F, Flores E, Napolitano A et al. Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survival. Carcinogenesis 2015: 36: 76-81.
    • (2015) Carcinogenesis , vol.36 , pp. 76-81
    • Baumann, F.1    Flores, E.2    Napolitano, A.3
  • 82
    • 84895808711 scopus 로고    scopus 로고
    • Molecular classification of malignant pleural mesothelioma: identification of a poor prognosis subgroup linked to the epithelial-to-mesenchymal transition
    • de Reynies A, Jaurand MC, Renier A et al. Molecular classification of malignant pleural mesothelioma: identification of a poor prognosis subgroup linked to the epithelial-to-mesenchymal transition. Clin Cancer Res 2014: 20: 1323-1334.
    • (2014) Clin Cancer Res , vol.20 , pp. 1323-1334
    • de Reynies, A.1    Jaurand, M.C.2    Renier, A.3
  • 84
    • 84901776801 scopus 로고    scopus 로고
    • A molecular revolution in uveal melanoma: implications for patient care and targeted therapy
    • Harbour JW, Chao DL. A molecular revolution in uveal melanoma: implications for patient care and targeted therapy. Ophthalmology 2014: 121: 1281-1288.
    • (2014) Ophthalmology , vol.121 , pp. 1281-1288
    • Harbour, J.W.1    Chao, D.L.2
  • 85
    • 84921906914 scopus 로고    scopus 로고
    • Asbestos, asbestosis, and cancer, the Helsinki criteria for diagnosis and attribution 2014: recommendations
    • Wolff H, Vehmas T, Oksa P, Rantanen J, Vainio H. Asbestos, asbestosis, and cancer, the Helsinki criteria for diagnosis and attribution 2014: recommendations. Scand J Work Environ Health 2015: 41: 5-15.
    • (2015) Scand J Work Environ Health , vol.41 , pp. 5-15
    • Wolff, H.1    Vehmas, T.2    Oksa, P.3    Rantanen, J.4    Vainio, H.5
  • 87
    • 0032887878 scopus 로고    scopus 로고
    • Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium
    • Kefford RF, Newton Bishop JA, Bergman W, Tucker MA. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma Genetics Consortium. J Clin Oncol 1999: 17: 3245-3251.
    • (1999) J Clin Oncol , vol.17 , pp. 3245-3251
    • Kefford, R.F.1    Newton Bishop, J.A.2    Bergman, W.3    Tucker, M.A.4
  • 88
    • 0037709883 scopus 로고    scopus 로고
    • von Hippel-Lindau disease
    • Lonser RR, Glenn GM, Walther M et al. von Hippel-Lindau disease. Lancet 2003: 361: 2059-2067.
    • (2003) Lancet , vol.361 , pp. 2059-2067
    • Lonser, R.R.1    Glenn, G.M.2    Walther, M.3
  • 89
    • 84926135762 scopus 로고    scopus 로고
    • Fibulin-3 as a diagnostic biomarker in patients with malignant mesothelioma
    • Kaya H, Demir M, Taylan M et al. Fibulin-3 as a diagnostic biomarker in patients with malignant mesothelioma. Asian Pac J Cancer Prev 2015: 16: 1403-1407.
    • (2015) Asian Pac J Cancer Prev , vol.16 , pp. 1403-1407
    • Kaya, H.1    Demir, M.2    Taylan, M.3
  • 90
    • 84856023489 scopus 로고    scopus 로고
    • Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma
    • Landreville S, Agapova OA, Matatall KA et al. Histone deacetylase inhibitors induce growth arrest and differentiation in uveal melanoma. Clin Cancer Res 2012: 18: 408-416.
    • (2012) Clin Cancer Res , vol.18 , pp. 408-416
    • Landreville, S.1    Agapova, O.A.2    Matatall, K.A.3
  • 91
    • 84936814469 scopus 로고    scopus 로고
    • Combination of MiR-103a-3p and mesothelin improves the biomarker performance of malignant mesothelioma diagnosis
    • Weber DG, Casjens S, Johnen G et al. Combination of MiR-103a-3p and mesothelin improves the biomarker performance of malignant mesothelioma diagnosis. PLoS One 2014: 9: e114483.
    • (2014) PLoS One , vol.9 , pp. e114483
    • Weber, D.G.1    Casjens, S.2    Johnen, G.3


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