Genetic predisposition for malignant mesothelioma: A concise review
Tài liệu tham khảo
Baumann, 2013, Asbestos is not just asbestos: an unrecognised health hazard, Lancet Oncol., 14, 576, 10.1016/S1470-2045(13)70257-2
IARC Working Group on the Evaluation of Carcinogenic Risks to Humans, 2017, vol. 111
C. Magnani, B. Fubini, D. Mirabelli, P.A. Bertazzi, C. Bianchi, E. Chellini, V. Gennaro, A. Marinaccio, M. Menegozzo, E. Merler, F. Merletti, M. Musti, E. Pira, A. Romanelli, B. Terracini, A. Zona, Pleural mesothelioma: epidemiological and public health issues. Report from the Second Italian Consensus Conference on Pleural Mesothelioma., Med. Lav. 104 (n.d.) 191–202.
Novello, 2016, The Third Italian Consensus Conference for Malignant Pleural Mesothelioma: state of the art and recommendations, Crit. Rev. Oncol. Hematol., 104, 9, 10.1016/j.critrevonc.2016.05.004
Tomasson, 2016, Malignant mesothelioma incidence by nation-wide cancer registry: a population-based study, J. Occup. Med. Toxicol., 11, 37, 10.1186/s12995-016-0127-4
Bray, 2017, vol. XI
Järvholm, 2015, Emerging evidence that the ban on asbestos use is reducing the occurrence of pleural mesothelioma in Sweden, Scand. J. Public Health, 43, 875, 10.1177/1403494815596500
Ferrante, 2016, Pleural mesothelioma and occupational and non-occupational asbestos exposure: a case-control study with quantitative risk assessment, Occup. Environ. Med., 73, 147, 10.1136/oemed-2015-102803
Hodgson, 2000, The quantitative risks of mesothelioma and lung cancer in relation to asbestos exposure, Ann. Occup. Hyg., 44, 565, 10.1016/S0003-4878(00)00045-4
Ugolini, 2008, Genetic susceptibility to malignant mesothelioma and exposure to asbestos: the influence of the familial factor, Mutat. Res. Mutat. Res., 658, 162, 10.1016/j.mrrev.2007.08.001
Carbone, 2007, A mesothelioma epidemic in Cappadocia: scientific developments and unexpected social outcomes, Nat. Rev. Cancer, 7, 147, 10.1038/nrc2068
Emri, 2017, The Cappadocia mesothelioma epidemic: its influence in Turkey and abroad, Ann. Transl. Med., 5, 239, 10.21037/atm.2017.04.06
Ascoli, 2003, A one-generation cluster of malignant mesothelioma within a family reveals exposure to asbestos-contaminated jute bags in Naples, Italy, Eur. J. Epidemiol., 18, 171, 10.1023/A:1023032214444
Ascoli, 2007, Mesothelioma in blood related subjects: report of 11 clusters among 1954 Italy cases and review of the literature, Am. J. Ind. Med., 50, 357, 10.1002/ajim.20451
Ascoli, 2014, Familial malignant mesothelioma: a population-based study in central Italy (1980-2012), Cancer Epidemiol., 38, 273, 10.1016/j.canep.2014.02.014
Ferrante, 2007, Cancer mortality and incidence of mesothelioma in a cohort of wives of asbestos workers in Casale Monferrato, Italy, Environ. Health Perspect., 115, 1401, 10.1289/ehp.10195
Sud, 2017, Genome-wide association studies of cancer: current insights and future perspectives, Nat. Rev. Cancer, 17, 692, 10.1038/nrc.2017.82
Dianzani, 2006, Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study, Mutat. Res. - Fundam. Mol. Mech. Mutagen., 599, 10.1016/j.mrfmmm.2006.02.005
Neri, 2008, Genetic susceptibility to malignant pleural mesothelioma and other asbestos-associated diseases, Mutat. Res., 659, 126, 10.1016/j.mrrev.2008.02.002
Betti, 2011, XRCC1 and ERCC1 variants modify malignant mesothelioma risk: a case-control study, Mutat. Res., 708, 11, 10.1016/j.mrfmmm.2011.01.001
Bolognesi, 2002, High frequency of micronuclei in peripheral blood lymphocytes as index of susceptibility to pleural malignant mesothelioma, Cancer Res., 62, 5418
Berwick, 2002, Studies of DNA repair and human cancer: an update, pp. 84
Matullo, 2013, Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study, PLoS One, 8, 10.1371/journal.pone.0061253
Cadby, 2013, A genome-wide association study for malignant mesothelioma risk, Lung Cancer, 82, 1, 10.1016/j.lungcan.2013.04.018
Tunesi, 2015, Gene-asbestos interaction in malignant pleural mesothelioma susceptibility, Carcinogenesis, 36, 10.1093/carcin/bgv097
Rothman, 2008
Gray, 2009, In arrayed ranks: array technology in the study of mesothelioma, J. Thorac. Oncol., 4, 411, 10.1097/JTO.0b013e3181951ce8
Guarrera, 2018, Peripheral blood DNA methylation as potential biomarker of Malignant Pleural Mesothelioma in asbestos-exposed subjects, J. Thorac. Oncol.
Testa, 2011, Germline BAP1 mutations predispose to malignant mesothelioma, Nat. Genet., 43, 1022, 10.1038/ng.912
Pilarski, 2016
Carbone, 2012, BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs, J. Transl. Med., 10, 179, 10.1186/1479-5876-10-179
Njauw, 2012, Germline BAP1 inactivation is preferentially associated with metastatic ocular melanoma and cutaneous-ocular melanoma families, PLoS One, 7, 10.1371/journal.pone.0035295
Baumann, 2015, Mesothelioma patients with germline BAP1 mutations have 7-fold improved long-term survival, Carcinogenesis., 36, 76, 10.1093/carcin/bgu227
Betti, 2015, Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high-risk area, Genes Chromosomes Cancer, 54, 51, 10.1002/gcc.22218
Ohar, 2016, Germline BAP1 mutational landscape of asbestos-exposed malignant mesothelioma patients with family history of Cancer, Cancer Res., 76, 206, 10.1158/0008-5472.CAN-15-0295
Pastorino, 2018, A subset of mesotheliomas with improved survival occurring in carriers of BAP1 and other germline mutations, J. Clin. Oncol., 36, 3485, 10.1200/JCO.2018.79.0352
Wiesner, 2011, Germline mutations in BAP1 predispose to melanocytic tumors, Nat. Genet., 43, 1018, 10.1038/ng.910
Kittaneh, 2018, Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members, J. Transl. Med., 16
Betti, 2018, Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes, Genes, Chromosom. Cancer., 57, 573, 10.1002/gcc.22670
Rai, 2016, Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases, Clin. Genet., 89, 285, 10.1111/cge.12630
Popova, 2013, Germline BAP1 mutations predispose to renal cell carcinomas, Am. J. Hum. Genet., 92, 974, 10.1016/j.ajhg.2013.04.012
Pilarski, 2014, Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases, Genes Chromosomes Cancer, 53, 177, 10.1002/gcc.22129
Wadt, 2015, A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma, Clin. Genet., 88, 267, 10.1111/cge.12501
Abdel-Rahman, 2011, Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers, J. Med. Genet., 48, 856, 10.1136/jmedgenet-2011-100156
Cheung, 2015, Germline BAP1 mutation in a family with high incidence of multiple primary cancers and a potential gene-environment interaction, Cancer Lett., 369, 261, 10.1016/j.canlet.2015.09.011
de la Fouchardière, 2015, Germline BAP1 mutations predispose also to multiple basal cell carcinomas, Clin. Genet., 88, 273, 10.1111/cge.12472
Wadt, 2012, A cryptic BAP1 splice mutation in a family with uveal and cutaneous melanoma, and paraganglioma, Pigment Cell Melanoma Res., 25, 815, 10.1111/pcmr.12006
Aoude, 2013, A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers, PLoS One, 8, 10.1371/journal.pone.0072144
McDonnell, 2016, A novel BAP1 mutation is associated with melanocytic neoplasms and thyroid cancer, Cancer Genet., 209, 75, 10.1016/j.cancergen.2015.12.007
Walpole, 2018, Comprehensive study of the clinical phenotype of germline BAP1 variant-carrying families worldwide, J. Natl. Cancer Inst., 10.1093/jnci/djy171
Rusch, 2015, Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases, Lung Cancer, 87, 77, 10.1016/j.lungcan.2014.10.017
Sneddon, 2015, Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma, Gene, 563, 103, 10.1016/j.gene.2015.03.031
Guo, 2015, Whole-exome sequencing reveals frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1 in malignant pleural mesothelioma, Cancer Res., 75, 264, 10.1158/0008-5472.CAN-14-1008
Daou, 2015, The BAP1/ASXL2 histone H2A deubiquitinase complex regulates cell proliferation and is disrupted in Cancer, J. Biol. Chem., 290, 28643, 10.1074/jbc.M115.661553
Yu, 2014, Tumor suppressor and deubiquitinase BAP1 promotes DNA double-strand break repair, Proc. Natl. Acad. Sci. U. S. A., 111, 285, 10.1073/pnas.1309085110
Ji, 2014, The forkhead transcription factor FOXK2 acts as a chromatin targeting factor for the BAP1-containing histone deubiquitinase complex, Nucleic Acids Res., 42, 6232, 10.1093/nar/gku274
Bononi, 2017, Germline BAP1 mutations induce a Warburg effect, Cell Death Differ., 24, 1694, 10.1038/cdd.2017.95
Ismail, 2014, Germline mutations in BAP1 impair its function in DNA double-strand break repair, Cancer Res., 74, 4282, 10.1158/0008-5472.CAN-13-3109
White, 2012, Cancer. Emerging anatomy of the BAP1 tumor suppressor system, Science, 337, 1463, 10.1126/science.1228463
Napolitano, 2016, Minimal asbestos exposure in germline BAP1 heterozygous mice is associated with deregulated inflammatory response and increased risk of mesothelioma, Oncogene, 35, 1996, 10.1038/onc.2015.243
Xu, 2014, Germline mutation of Bap1 accelerates development of asbestos-induced malignant mesothelioma, Cancer Res., 74, 4388, 10.1158/0008-5472.CAN-14-1328
Panou, 2018, Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma, J. Clin. Oncol., 36, 2863, 10.1200/JCO.2018.78.5204
Baumann, 2016, Environmental risk of mesothelioma in the United States: an emerging concern—epidemiological issues, J. Toxicol. Environ. Heal. B, 19, 231, 10.1080/10937404.2016.1195322
Carbone, 2015, Combined genetic and genealogic studies uncover a large BAP1 Cancer syndrome kindred tracing back nine generations to a common ancestor from the 1700s, PLoS Genet., 11, 10.1371/journal.pgen.1005633
Righi, 2016, BRCA1-associated protein 1 (BAP1) immunohistochemical expression as a diagnostic tool in malignant pleural mesothelioma classification: a large retrospective study, J. Thorac. Oncol., 11, 2006, 10.1016/j.jtho.2016.06.020
Lo Iacono, 2015, Targeted next-generation sequencing of cancer genes in advanced stage malignant pleural mesothelioma: a retrospective study, J. Thorac. Oncol., 10, 492, 10.1097/JTO.0000000000000436
Bueno, 2016, Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations, Nat. Genet., 48, 407, 10.1038/ng.3520
Betti, 2016, CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma, Cancer Lett., 378, 10.1016/j.canlet.2016.05.011
Betti, 2017, Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma, Cancer Lett., 405, 38, 10.1016/j.canlet.2017.06.028
Petrucelli, 2016
Mehta, 2018
Kraemer, 2016
Peltomäki, 2005, Lynch syndrome genes, Fam. Cancer, 4, 227, 10.1007/s10689-004-7993-0
Wang, 2013, The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma, Gene., 524, 28, 10.1016/j.gene.2013.04.030
Aoude, 2015, Genetics of familial melanoma: 20 years after CDKN2A, Pigment Cell Melanoma Res., 28, 148, 10.1111/pcmr.12333
Ceelen, 2011, Malignant peritoneal mesothelioma in a patient with Li-Fraumeni syndrome, J. Clin. Oncol., 29, 10.1200/JCO.2010.34.1933
Baser, 2005, Neurofibromatosis 2 (NF2) and malignant mesothelioma in a man with a constitutional NF2 missense mutation, Fam. Cancer, 4, 321, 10.1007/s10689-005-0659-8
Hylebos, 2017, Large-scale copy number analysis reveals variations in genes not previously associated with malignant pleural mesothelioma, Oncotarget, 8, 113673, 10.18632/oncotarget.22817
Robinson, 2017, Integrative clinical genomics of metastatic cancer, Nature, 548, 297, 10.1038/nature23306
Fong, 2009, Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers., N. Engl, J. Med., 361, 123
Swisher, 2017, Rucaparib in relapsed, platinum-sensitive high-grade ovarian carcinoma (ARIEL2 Part 1): an international, multicentre, open-label, phase 2 trial, Lancet Oncol., 18, 75, 10.1016/S1470-2045(16)30559-9
Lord, 2017, PARP inhibitors: synthetic lethality in the clinic, Science (80-.), 355, 1152, 10.1126/science.aam7344
Brown, 2017, Targeting DNA repair in Cancer: beyond PARP inhibitors, Cancer Discov., 7, 20, 10.1158/2159-8290.CD-16-0860
Ohmoto, 2017, Current status of poly(ADP-ribose) polymerase inhibitors and future directions, Onco. Ther., 10, 5195, 10.2147/OTT.S139336
Yap, 2017, Novel insights into mesothelioma biology and implications for therapy, Nat. Rev. Cancer, 17, 475, 10.1038/nrc.2017.42
LaFave, 2015, Loss of BAP1 function leads to EZH2-dependent transformation, Nat. Med., 21, 1344, 10.1038/nm.3947
Bononi, 2015, Latest developments in our understanding of the pathogenesis of mesothelioma and the design of targeted therapies, Expert Rev. Respir. Med., 9, 633, 10.1586/17476348.2015.1081066