Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types
dc.contributor.author | Jones, Siân | en_US |
dc.contributor.author | Li, Meng | en_US |
dc.contributor.author | Parsons, D. Williams | en_US |
dc.contributor.author | Zhang, Xiaosong | en_US |
dc.contributor.author | Wesseling, Jelle | en_US |
dc.contributor.author | Kristel, Petra | en_US |
dc.contributor.author | Schmidt, Marjanka K. | en_US |
dc.contributor.author | Markowitz, Sanford | en_US |
dc.contributor.author | Yan, Hai | en_US |
dc.contributor.author | Bigner, Darell | en_US |
dc.contributor.author | Hruban, Ralph H. | en_US |
dc.contributor.author | Eshleman, James R. | en_US |
dc.contributor.author | Iacobuzio‐donahue, Christine A. | en_US |
dc.contributor.author | Goggins, Michael | en_US |
dc.contributor.author | Maitra, Anirban | en_US |
dc.contributor.author | Malek, Sami N. | en_US |
dc.contributor.author | Powell, Steve | en_US |
dc.contributor.author | Vogelstein, Bert | en_US |
dc.contributor.author | Kinzler, Kenneth W. | en_US |
dc.contributor.author | Velculescu, Victor E. | en_US |
dc.contributor.author | Papadopoulos, Nickolas | en_US |
dc.date.accessioned | 2012-01-05T22:06:20Z | |
dc.date.available | 2013-03-04T15:29:55Z | en_US |
dc.date.issued | 2012-01 | en_US |
dc.identifier.citation | Jones, Siân ; Li, Meng; Parsons, D. Williams; Zhang, Xiaosong; Wesseling, Jelle; Kristel, Petra; Schmidt, Marjanka K.; Markowitz, Sanford; Yan, Hai; Bigner, Darell; Hruban, Ralph H.; Eshleman, James R.; Iacobuzio‐donahue, Christine A. ; Goggins, Michael; Maitra, Anirban; Malek, Sami N.; Powell, Steve; Vogelstein, Bert; Kinzler, Kenneth W.; Velculescu, Victor E.; Papadopoulos, Nickolas (2012). "Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types ." Human Mutation 33(1): 100-103. <http://hdl.handle.net/2027.42/89516> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/89516 | |
dc.description.abstract | Mutations in the chromatin remodeling gene ARID1A have recently been identified in the majority of ovarian clear cell carcinomas (OCCCs). To determine the prevalence of mutations in other tumor types, we evaluated 759 malignant neoplasms including those of the pancreas, breast, colon, stomach, lung, prostate, brain, and blood (leukemias). We identified truncating mutations in 6% of the neoplasms studied; nontruncating somatic mutations were identified in an additional 0.4% of neoplasms. Mutations were most commonly found in gastrointestinal samples with 12 of 119 (10%) colorectal and 10 of 100 (10%) gastric neoplasms, respectively, harboring changes. More than half of the mutated colorectal and gastric cancers displayed microsatellite instability (MSI) and the mutations in these tumors were out‐of‐frame insertions or deletions at mononucleotide repeats. Mutations were also identified in 2–8% of tumors of the pancreas, breast, brain (medulloblastomas), prostate, and lung, and none of these tumors displayed MSI. These findings suggest that the aberrant chromatin remodeling consequent to ARID1A inactivation contributes to a variety of different types of neoplasms. Hum Mutat 33:100–103, 2012. © 2011 Wiley Periodicals, Inc. | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | ARID1A | en_US |
dc.subject.other | Cancer | en_US |
dc.subject.other | Chromatin Remodeling | en_US |
dc.title | Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Division of Hematology and Oncology, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute, Johns Hopkins Kimmel Cancer Center, Baltimore, Maryland | en_US |
dc.contributor.affiliationother | Texas Children's Cancer Center and Departments of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas | en_US |
dc.contributor.affiliationother | Department of Pathology, Netherlands Cancer Institute/Antoni van Leeuwenhoek Hospital Plesmanlaan 121, Amsterdam, The Netherlands | en_US |
dc.contributor.affiliationother | Department of Medicine, and Seidman Cancer Center at Case Western Reserve University and Case Medical Center of University Hospitals of Cleveland, Cleveland, Ohio | en_US |
dc.contributor.affiliationother | Department of Pathology, Pediatric Brain Tumor Foundation, and Preston Robert Tisch Brain Tumor Center at Duke University Medical Center, Durham, North Carolina | en_US |
dc.contributor.affiliationother | Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins Medical Institutions, Baltimore, Maryland | en_US |
dc.contributor.affiliationother | Division of Gastroenterology, Department of Internal Medicine, University of Virginia Health System, Charlottesville, Virginia | en_US |
dc.contributor.affiliationother | The Sidney Kimmel Comprehensive Cancer Center, Room 589, 1650 Orleans Street, Baltimore, MD 21231 | en_US |
dc.identifier.pmid | 22009941 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/89516/1/humu_21633_sm_Mat.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/89516/2/21633_ftp.pdf | |
dc.identifier.doi | 10.1002/humu.21633 | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.identifier.citedreference | Birnbaum DJ, Birnbaum D, Bertucci F. 2011. Endometriosis‐associated ovarian carcinomas. N Engl J Med 364: 483 – 484. | en_US |
dc.identifier.citedreference | Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A, Davies H, Edkins S, Hardy C, Latimer C, Teague J, Andrews J, Barthorpe S, Beare D, Buck G, Campbell PJ, Forbes S, Jia M, Jones D, Knott H, Kok CY, Lau KW, Leroy C, Lin ML, McBride DJ, Maddison M, Maguire S, McLay K, Menzies A, Mironenko T, Mulderrig L, Mudie L, O'Meara S, Pleasance E, Rajasingham A, Shepherd R, Smith R, Stebbings L, Stephens P, Tang G, Tarpey PS, Turrell K, Dykema KJ, Khoo SK, Petillo D, Wondergem B, Anema J, Kahnoski RJ, Teh BT, Stratton MR, Futreal PA. 2010. Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. Nature 463: 360 – 363. | en_US |
dc.identifier.citedreference | Eshleman JR, Markowitz SD, Donover PS, Lang EZ, Lutterbaugh JD, Li GM, Longley M, Modrich P, Veigl ML, Sedwick WD. 1996. Diverse hypermutability of multiple expressed sequence motifs present in a cancer with microsatellite instability. Oncogene 12: 1425 – 1432. | en_US |
dc.identifier.citedreference | Gui Y, Guo G, Huang Y, Hu X, Tang A, Gao S, Wu R, Chen C, Li X, Zhou L, He M, Li Z, Sun X, Jia W, Chen J, Yang S, Zhou F, Zhao X, Wan S, Ye R, Liang C, Liu Z, Huang P, Liu C, Jiang H, Wang Y, Zheng H, Sun L, Liu X, Jiang Z, Feng D, Chen J, Wu S, Zou J, Zhang Z, Yang R, Zhao J, Xu C, Yin W, Guan Z, Ye J, Zhang H, Li J, Kristiansen K, Nickerson ML, Theodorescu D, Li Y, Zhang X, Li S, Wang J, Yang H, Wang J, Cai Z. 2011. Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet. 43: 875 – 878. | en_US |
dc.identifier.citedreference | Huang J, Zhao YL, Li Y, Fletcher JA, Xiao S. 2007. Genomic and functional evidence for an ARID1A tumor suppressor role. Genes Chromosomes Cancer 46: 745 – 750. | en_US |
dc.identifier.citedreference | Jones S, Wang TL, Shih IeM, Mao TL, Nakayama K, Roden R, Glas R, Slamon D, Diaz LA Jr, Vogelstein B, Kinzler KW, Velculescu VE, Papadopoulos N. 2010. Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma. Science 330: 228 – 231. | en_US |
dc.identifier.citedreference | Jones S, Zhang X, Parsons DW, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Kamiyama H, Jimeno A, Hong SM, Fu B, Lin MT, Calhoun ES, Kamiyama M, Walter K, Nikolskaya T, Nikolsky Y, Hartigan J, Smith DR, Hidalgo M, Leach SD, Klein AP, Jaffee EM, Goggins M, Maitra A, Iacobuzio‐Donahue C, Eshleman JR, Kern SE, Hruban RH, Karchin R, Papadopoulos N, Parmigiani G, Vogelstein B, Velculescu VE, Kinzler KW. 2008. Core signaling pathways in human pancreatic cancers revealed by global genomic analyses. Science 321: 1801 – 1806. | en_US |
dc.identifier.citedreference | Kern SE. 2002. Quantitative selection constants. Cancer Biol Ther 1: 189 – 194. | en_US |
dc.identifier.citedreference | Markowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, Fan RS, Zborowska E, Kinzler KW, Vogelstein B, Brattain M, Wilson JKV. Inactivation of the type II TGF‐beta receptor in colon cancer cells with microsatellite instability. 1995. Science 268: 1336 – 1338. | en_US |
dc.identifier.citedreference | Medina PP, Romero OA, Kohno T, Montuenga LM, Pio R, Yokota J, Sanchez‐Cespedes M. 2008. Frequent BRG1/SMARCA4‐inactivating mutations in human lung cancer cell lines. Hum Mutat 29: 617 – 622. | en_US |
dc.identifier.citedreference | Meyerson M, Gabriel S, Getz G. 2010. Advances in understanding cancer genomes through second‐generation sequencing. Nat Rev Genet 11: 685 – 696. | en_US |
dc.identifier.citedreference | Morin RD, Mendez‐Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura‐Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks‐Wilson A, Spinelli JJ, Ben‐Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA. 2011. Frequent mutation of histone‐modifying genes in non‐Hodgkin lymphoma. Nature 476: 298 – 303. | en_US |
dc.identifier.citedreference | Nagl NG Jr, Wang X, Patsialou A, Van Scoy M, Moran E. 2007. Distinct mammalian SWI/SNF chromatin remodeling complexes with opposing roles in cell‐cycle control. EMBO J 26: 752 – 763. | en_US |
dc.identifier.citedreference | Parsons DW, Jones S, Zhang X, Lin JC, Leary RJ, Angenendt P, Mankoo P, Carter H, Siu IM, Gallia GL, Olivi A, McLendon R, Rasheed BA, Keir S, Nikolskaya T, Nikolsky Y, Busam DA, Tekleab H, Diaz LA Jr, Hartigan J, Smith DR, Strausberg RL, Marie SK, Shinjo SM, Yan H, Riggins GJ, Bigner DD, Karchin R, Papadopoulos N, Parmigiani G, Vogelstein B, Velculescu VE, Kinzler KW. 2008. An integrated genomic analysis of human glioblastoma multiforme. Science 321: 1807 – 1812. | en_US |
dc.identifier.citedreference | Parsons DW, Li M, Zhang X, Jones S, Leary RJ, Lin JC, Boca SM, Carter H, Samayoa J, Bettegowda C, Gallia GL, Jallo GI, Binder ZA, Nikolsky Y, Hartigan J, Smith DR, Gerhard DS, Fults DW, VandenBerg S, Berger MS, Marie SK, Shinjo SM, Clara C, Phillips PC, Minturn JE, Biegel JA, Judkins AR, Resnick AC, Storm PB, Curran T, He Y, Rasheed BA, Friedman HS, Keir ST, McLendon R, Northcott PA, Taylor MD, Burger PC, Riggins GJ, Karchin R, Parmigiani G, Bigner DD, Yan H, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE. 2011. The genetic landscape of the childhood cancer medulloblastoma. Science 331: 435 – 439. | en_US |
dc.identifier.citedreference | Rampino N, Yamamoto H, Ionov Y, Li Y, Sawai H, Reed JC, Perucho M. 1997. Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science 275: 967 – 969. | en_US |
dc.identifier.citedreference | Sjöblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE. 2006. The consensus coding sequences of human breast and colorectal cancers. Science 314: 268 – 274. | en_US |
dc.identifier.citedreference | Stratton MR. 2011. Exploring the genomes of cancer cells: progress and promise. Science 331: 1553 – 1558. | en_US |
dc.identifier.citedreference | Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, Tuveson DA, Perez‐Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust A, Chan‐on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT, Stratton MR, Futreal PA. 2011. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature 469: 539 – 542. | en_US |
dc.identifier.citedreference | Wang X, Nagl NG, Wilsker D, Van Scoy M, Pacchione S, Yaciuk P, Dallas PB, Moran E. 2004. Two related ARID family proteins are alternative subunits of human SWI/SNF complexes. Biochem J 383: 319 – 325. | en_US |
dc.identifier.citedreference | Weissman B, Knudsen KE. 2009. Hijacking the chromatin remodeling machinery: impact of SWI/SNF perturbations in cancer. Cancer Res 69: 8223 – 8230. | en_US |
dc.identifier.citedreference | Wiegand KC, Lee AF, Al‐Agha OM, Chow C, Kalloger SE, Scott DW, Steidl C, Wiseman SM, Gascoyne RD, Gilks B, Huntsman DG. 2011. Loss of BAF250a (ARID1A) is frequent in high grade endometrial carcinomas. J Pathol 224: 328 – 333. | en_US |
dc.identifier.citedreference | Wiegand KC, Shah SP, Al‐Agha OM, Zhao Y, Tse K, Zeng T, Senz J, McConechy MK, Anglesio MS, Kalloger SE, Yang W, Heravi‐Moussavi A, Giuliany R, Chow C, Fee J, Zayed A, Prentice L, Melnyk N, Turashvili G, Delaney AD, Madore J, Yip S, McPherson AW, Ha G, Bell L, Fereday S, Tam A, Galletta L, Tonin PN, Provencher D, Miller D, Jones SJ, Moore RA, Morin GB, Oloumi A, Boyd N, Aparicio SA, Shih IeM, Mes‐Masson AM, Bowtell DD, Hirst M, Gilks B, Marra MA, Huntsman DG. 2010. ARID1A mutations in endometriosis‐associated ovarian carcinomas. N Engl J Med 363: 1532 – 1543. | en_US |
dc.identifier.citedreference | Wilson BG, Roberts CW. 2011. SWI/SNF nucleosome remodelers and cancer. Nat Rev Cancer 11: 481 – 492. | en_US |
dc.identifier.citedreference | Wood LD, Parsons DW, Jones S, Lin J, Sjöblom T, Leary RJ, Shen D, Boca SM, Barber T, Ptak J, Silliman N, Szabo S, Dezso Z, Ustyanksky V, Nikolskaya T, Nikolsky Y, Karchin R, Wilson PA, Kaminker JS, Zhang Z, Croshaw R, Willis J, Dawson D, Shipitsin M, Willson JK, Sukumar S, Polyak K, Park BH, Pethiyagoda CL, Pant PV, Ballinger DG, Sparks AB, Hartigan J, Smith DR, Suh E, Papadopoulos N, Buckhaults P, Markowitz SD, Parmigiani G, Kinzler KW, Velculescu VE, Vogelstein B. 2007. The genomic landscapes of human breast and colorectal cancers. Science 318: 1108 – 1113. | en_US |
dc.identifier.citedreference | Wu JI, Lessard J, Crabtree GR. 2009. Understanding the words of chromatin regulation. Cell 136: 200 – 206. | en_US |
dc.identifier.citedreference | Yan H, Parsons DW, Jin G, McLendon R, Rasheed BA, Yuan W, Kos I, Batinic‐Haberle I, Jones S, Riggins GJ, Friedman H, Friedman A, Reardon D, Herndon J, Kinzler KW, Velculescu VE, Vogelstein B, Bigner DD. 2009. IDH1 and IDH2 mutations in gliomas. N Engl J Med 360: 765 – 773. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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