Germline BAP1 mutations predispose to malignant mesothelioma

Nature Genetics

Volumn 43, Issue 10, 2011, Pages 1022-1026

  Testa, Joseph R ^a   Cheung, Mitchell ^a   Pei, Jianming ^a   Below, Jennifer E ^b   Tan, Yinfei ^a   Sementino, Eleonora ^a   Cox, Nancy J ^b   Dogan, A Umran ^c,d   Pass, Harvey I ^e   Trusa, Sandra ^e   Hesdorffer, Mary ^f   Nasu, Masaki ^g,h   Powers, Amy ^g   Rivera, Zeyana ^g,h   Comertpay, Sabahattin ^g,h   Tanji, Mika ^g,h   Gaudino, Giovanni ^g   Yang, Haining ^g,i   Carbone, Michele ^g  

^a FOX CHASE CANCER CENTER   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c KING FAHD UNIVERSITY OF PETROLEUM AND MINERALS   (Saudi Arabia)

^d IA United States   (United States)

^e NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^f Mesothelioma Applied Research Foundation   (United States)

^g UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^h UNIVERSITY OF HAWAII   (United States)

ⁱ UNIVERSITY OF HAWAII   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASBESTOS; BRCA1 ASSOCIATED PROTEIN 1; BRCA1 PROTEIN; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CANCER INCIDENCE; CLINICAL ARTICLE; EARLY INTERVENTION; ENVIRONMENTAL EXPOSURE; FAMILY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GENETIC LINKAGE; GENETIC PREDISPOSITION; HETEROZYGOTE; HIGH RISK POPULATION; HUMAN; MALE; MALIGNANT MESOTHELIOMA; PRIORITY JOURNAL; UVEA MELANOMA;

ASBESTOS; ENVIRONMENTAL EXPOSURE; FEMALE; GENETIC LINKAGE; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MELANOMA; MESOTHELIOMA; PEDIGREE; PLEURAL NEOPLASMS; RISK FACTORS; TUMOR SUPPRESSOR PROTEINS; UBIQUITIN THIOLESTERASE; UVEAL NEOPLASMS;

EID: 80053385701     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.912     Document Type: Article

References (31)

1. Carbone, M. et al. Malignant mesothelioma: Facts, myths and hypotheses. J. Cell. Physiol., doi:10.1002/jcp.22724 (published online 16 March 2011
2. Flores, R.M. et al. Extrapleural pneumonectomy versus pleurectomy/decortication in the surgical management of malignant pleural mesothelioma: results in 663 patients. J. Thorac. Cardiovasc. Surg. 135, 620-626 (2008
3. Tweedale, G. Asbestos and its lethal legacy. Nat. Rev. Cancer 2, 311-315 (2002 (Pubitemid 37328784)
4. Kamp, D.W. Asbestos-induced lung diseases: an update. Transl. Res. 153, 143-152 (2009
5. Moolgavkar, S.H., Meza, R. & Turim, J. Pleural and peritoneal mesotheliomas in SEER: age effects and temporal trends, 1973-2005. Cancer Causes Control 20, 935-944 (2009
6. Goldberg, M. et al. The French National Mesothelioma Surveillance Program. Occup. Environ. Med. 63, 390-395 (2006 (Pubitemid 43828903)
7. Britton, M. The epidemiology of mesothelioma. Semin. Oncol. 29, 18-25 (2002 (Pubitemid 34163531)
8. Burki, T. Health experts concerned over India's asbestos industry. Lancet 375, 626-627 (2010
9. Pan, X.L., Day, H.W., Wang, W., Beckett, L.A. & Schenker, M.B. Residential proximity to naturally occurring asbestos and mesothelioma risk in California. Am. J. Respir. Crit. Care Med. 172, 1019-1025 (2005 (Pubitemid 41476540)
10. Carbone, M. et al. Erionite exposure in North Dakota and in the Turkish villages with mesothelioma. Proc. Natl. Acad. Sci. USA published online, doi:10.1073/ pnas.1105887108 (25 July 2011
11. Carbone, M. et al. A mesothelioma epidemic in Cappadocia: scientific developments and unexpected social outcomes. Nat. Rev. Cancer 7, 147-154 (2007 (Pubitemid 46160990)
12. Flejter, W.L., Li, F.P., Antman, K.H. & Testa, J.R. Recurring loss involving chromosomes 1, 3, and 22 in malignant mesothelioma: possible sites of tumor suppressor genes. Genes Chromosom. Cancer 1, 148-154 (1989 (Pubitemid 20094559)
13. Lu, Y.Y., Jhanwar, S.C., Cheng, J.Q. & Testa, J.R. Deletion mapping of the short arm of chromosome 3 in human malignant mesothelioma. Genes Chromosom. Cancer 9, 76-80 (1994 (Pubitemid 24007501)
14. Murthy, S.S. & Testa, J.R. Asbestos, chromosomal deletions, and tumor suppressor gene alterations in human malignant mesothelioma. J. Cell. Physiol. 180, 150-157 (1999 (Pubitemid 29297191)
15. Jensen, D.E. et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene 16, 1097-1112 (1998 (Pubitemid 28127509)
16. Ventii, K.H. et al. BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res. 68, 6953-6962 (2008
17. Das, S. et al. Diverse mutations in patients with Menkes disease often lead to exon skipping. Am. J. Hum. Genet. 55, 883-889 (1994 (Pubitemid 24334279)
18. Baralle, D. & Baralle, M. Splicing in action: assessing disease causing sequence changes. J. Med. Genet. 42, 737-748 (2005 (Pubitemid 41475248)
19. Harbour, J.W. et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science 330, 1410-1413 (2010
20. Houlston, R.S. & Damato, B.E. Genetic predisposition to ocular melanoma. Eye 13, 43-46 (1999 (Pubitemid 29121597)
21. Bott, M. et al. The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma. Nat. Genet. 43, 668-672 (2011
22. Albert, D.M. & Van Buren, J.J. Intraocular melanomas. in Cancer, Principles & Practice of Oncology, Vol. 1 (eds. De Vita, V.T., Lawrence, T.S. & Rosenberg, S.A.) 2090-2098 (Lippincott Williams & Wilkins, Philadelphia, Pennsylvania, USA, 2011
23. Korn, J.M. et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat. Genet. 40, 1253-1260 (2008
24. Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007 (Pubitemid 47330214)
25. International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851-861 (2007
26. Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006 (Pubitemid 44141658)
27. Mäkinen, V.P. et al. High-throughput pedigree drawing. Eur. J. Hum. Genet. 13, 987-989 (2005
28. Gudbjartsson, D.F., Thorvaldsson, T., Kong, A., Gunnarsson, G. & Ingolfsdottir, A. Allegro version 2. Nat. Genet. 37, 1015-1016 (2005
29. Altomare, D.A. et al. Activated TNF-alpha/NF-kappaB signaling via down-regulation of Fas-associated factor 1 in asbestos-induced mesotheliomas from Arf knockout mice. Proc. Natl. Acad. Sci. USA 106, 3420-3425 (2009
30. Yang, H. et al. Programmed necrosis induced by asbestos in human mesothelial cells causes high-mobility group box 1 protein release and resultant inflammation. Proc. Natl. Acad. Sci. USA 107, 12611-12616 (2010
31. Cheung, M. et al. The promyelocytic leukemia zinc finger gene, PLZF, is frequently downregulated in malignant mesothelioma cells and contributes to cell survival. Oncogene 29, 1633-1640 (2010