An American founder mutation in MLH1
dc.contributor.author | Tomsic, Jerneja | en_US |
dc.contributor.author | Liyanarachchi, Sandya | en_US |
dc.contributor.author | Hampel, Heather | en_US |
dc.contributor.author | Morak, Monika | en_US |
dc.contributor.author | Thomas, Brittany C. | en_US |
dc.contributor.author | Raymond, Victoria M. | en_US |
dc.contributor.author | Chittenden, Anu | en_US |
dc.contributor.author | Schackert, Hans K. | en_US |
dc.contributor.author | Gruber, Stephen B. | en_US |
dc.contributor.author | Syngal, Sapna | en_US |
dc.contributor.author | Viel, Alessandra | en_US |
dc.contributor.author | Holinski‐feder, Elke | en_US |
dc.contributor.author | Thibodeau, Stephen N. | en_US |
dc.contributor.author | de la Chapelle, Albert | en_US |
dc.date.accessioned | 2012-03-16T16:01:08Z | |
dc.date.available | 2013-07-01T14:33:05Z | en_US |
dc.date.issued | 2012-05-01 | en_US |
dc.identifier.citation | Tomsic, Jerneja; Liyanarachchi, Sandya; Hampel, Heather; Morak, Monika; Thomas, Brittany C.; Raymond, Victoria M.; Chittenden, Anu; Schackert, Hans K.; Gruber, Stephen B.; Syngal, Sapna; Viel, Alessandra; Holinski‐feder, Elke ; Thibodeau, Stephen N.; de la Chapelle, Albert (2012). "An American founder mutation in MLH1 ." International Journal of Cancer 130(9): 2088-2095. <http://hdl.handle.net/2027.42/90376> | en_US |
dc.identifier.issn | 0020-7136 | en_US |
dc.identifier.issn | 1097-0215 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/90376 | |
dc.description.abstract | Mutations in the mismatch repair genes cause Lynch syndrome (LS), conferring high risk of colorectal, endometrial and some other cancers. After the same splice site mutation in the MLH1 gene (c.589‐2A>G) had been observed in four ostensibly unrelated American families with typical LS cancers, its occurrence in comprehensive series of LS cases (Mayo Clinic, Germany and Italy) was determined. It occurred in 10 out of 995 LS mutation carriers (1.0%) diagnosed in the Mayo Clinic diagnostic laboratory. It did not occur among 1,803 cases tested for MLH1 mutations by the German HNPCC consortium, while it occurred in three probands and an additional five family members diagnosed in Italy. In the U.S., the splice site mutation occurs on a large (∼4.8 Mb) shared haplotype that also harbors the variant c.2146G>A, which predicts a missense change in codon 716 referred to here as V716M. In Italy, it occurs on a different, shorter shared haplotype (∼2.2 Mb) that does not carry V716M. The V716M variant was found to be present by itself in the U.S., German and Italian populations with individuals sharing a common haplotype of 280 kb, allowing us to calculate that the variant arose around 5,600 years ago (225 generations; 95% confidence interval 183–272). The splice site mutation in America arose or was introduced some 450 years ago (18 generations; 95% confidence interval 14–23); it accounts for 1.0% all LS in the Unites States and can be readily screened for. | en_US |
dc.publisher | Wiley Subscription Services, Inc., A Wiley Company | en_US |
dc.subject.other | MLH1 | en_US |
dc.subject.other | Genetic Predisposition | en_US |
dc.subject.other | Founder Mutation | en_US |
dc.subject.other | Colon Cancer | en_US |
dc.title | An American founder mutation in MLH1 | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Oncology and Hematology | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Epidemiology, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Department of Internal Medicine, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationum | Department of Human Genetics, University of Michigan, Ann Arbor, MI | en_US |
dc.contributor.affiliationother | Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN | en_US |
dc.contributor.affiliationother | Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, Columbus, OH | en_US |
dc.contributor.affiliationother | Medical Department Campus Innenstadt, University Clinic, Munich, Germany | en_US |
dc.contributor.affiliationother | MGZ, Center of Medical Genetics, Munich, Germany | en_US |
dc.contributor.affiliationother | Population Sciences Division, Dana‐Farber Cancer Institute, Boston, MA | en_US |
dc.contributor.affiliationother | Department of Surgical Research, Dresden University of Technology, Dresden, Germany | en_US |
dc.contributor.affiliationother | Gastroenterology Division, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA | en_US |
dc.contributor.affiliationother | Experimental Oncology 1, CRO IRCCS, National Cancer Institute, Aviano, Italy | en_US |
dc.contributor.affiliationother | Human Cancer Genetics Program, Comprehensive Cancer Center, The Ohio State University, 804 Biomedical Research Tower, 460 W. 12th Avenue, Columbus, OH 43210, USA | en_US |
dc.identifier.pmid | 21671475 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/90376/1/26233_ftp.pdf | |
dc.identifier.doi | 10.1002/ijc.26233 | en_US |
dc.identifier.source | International Journal of Cancer | en_US |
dc.identifier.citedreference | Pastrello C, Pin E, Marroni F, Bedin C, Fornasarig M, Tibiletti MG, Oliani C, Ponz de Leon M, Urso ED, Della Puppa L, Agostini M, Viel A. Integrated analysis of unclassified variants in mismatch repair genes. Genet Med 2011; 13: 115 – 24. | en_US |
dc.identifier.citedreference | Drost M, Zonneveld JB, van Dijk L, Morreau H, Tops CM, Vasen HF, Wijnen JT, de Wind N. A cell‐free assay for the functional analysis of variants of the mismatch repair protein MLH1. Hum Mutat 2010; 31: 247 – 53. | en_US |
dc.identifier.citedreference | Martinez SL, Kolodner RD. Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. Proc Natl Acad Sci U S A 2010; 107: 5070 – 5. | en_US |
dc.identifier.citedreference | Mangold E, Pagenstecher C, Friedl W, Mathiak M, Buettner R, Engel C, Loeffler M, Holinski‐Feder E, Müller‐Koch Y, Keller G, Schackert HK, Krüger S, et al. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer 2005; 116: 692 – 702. | en_US |
dc.identifier.citedreference | Luce MC, Marra G, Chauhan DP, Laghi L, Carethers JM, Cherian SP, Hawn M, Binnie CG, Kam‐Morgan LN, Cayouette MC. In vitro transcription/translation assay for the screening of hMLH1 and hMSH2 mutations in familial colon cancer. Gastroenterology 1995; 109: 1368 – 74. | en_US |
dc.identifier.citedreference | Desai DC, Lockman JC, Chadwick RB, Gao X, Percesepe A, Evans DGR, Miyaki M, Yuen ST, Radice P, Maher ER, Wright FA, de la Chapelle A. Recurrent germline mutation in MSH2 arises frequently de novo. J Med Genet 2000; 37: 646 – 52. | en_US |
dc.identifier.citedreference | Froggatt NJ, Green J, Brassett C, Evans DG, Bishop DT, Kolodner R, Maher ER. A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet 1999; 36: 97 – 102. | en_US |
dc.identifier.citedreference | Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CMT, et al. The founder mutation MSH2*1906G→C is an important cause of Hereditary Non‐Polyposis Colorectal Cancer in the Ashkenazi Jewish population. Am J Hum Genet 2002; 71: 1395 – 412. | en_US |
dc.identifier.citedreference | Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan‐Changur S, Breukel C, Meijers‐Heijboer H, Morreau H, et al. Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and charactrization of an American founder genomic deletion of the MSH2 gene. Am J Hum Genet 2003; 72: 1088 – 100. | en_US |
dc.identifier.citedreference | Lynch HT, Coronel SM, Okimoto R, Hampel H, Sweet K, Lynch JF, Barrows A, Wijnen J, van der Klift H, Franken P, Wagner A, Fodde R, et al. A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. JAMA 2004; 291: 718 – 24. | en_US |
dc.identifier.citedreference | Clendenning M, Baze MD, Sun S, Walsh K, Liyanarachchi S, Fix D, Schunemann V, Comeras I, Deacon M, Lynch JF, Gong G, Thomas BC, et al. Origins and prevalence of the American founder mutation of MSH2. Cancer Res 2008; 68: 2145 – 53. | en_US |
dc.identifier.citedreference | Genuardi M, Carrara S, Anti M, Ponz de Leòn M, Viel A. Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2. Eur J Hum Genet 1999; 7: 778 – 82. | en_US |
dc.identifier.citedreference | Viel A, Genuardi M, Lucci‐Cordisco E, Capozzi E, Rovella V, Fornasarig M, Ponz de Leòn M, Anti M, Pedroni M, Bellacosa A, Percesepe A, Covino M, et al. Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics. Community Genet 1998; 1: 229 – 36. | en_US |
dc.identifier.citedreference | Goecke T, Schulmann K, Engel C, Holinski‐Feder E, Pagenstecher C, Schackert HK, Kloor M, Kunstmann E, Vogelsang H, Keller G, Dietmaier W, Mangold E, et al. Genotype‐phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. J Clin Oncol 2006; 24: 4285 – 92. | en_US |
dc.identifier.citedreference | Takahashi M, Shimodaira H, Andreutti‐Zaugg C, Iggo R, Kolodner RD, Ishioka C. Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. Cancer Res 2007; 67: 4595 – 604. | en_US |
dc.identifier.citedreference | Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski‐Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes A‐M, Peltomäki P, et al. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 2005; 129: 537 – 49. | en_US |
dc.identifier.citedreference | Ponz de Leon M, Benatti P, Di Gregorio C, Pedroni M, Losi L, Genuardi M, Viel A, Fornasarig M, Lucci‐Cordisco E, Anti M, Ponti G, Borghi F, et al. Genetic testing among high‐risk individuals in families with hereditary nonpolyposis colorectal cancer. Br J Cancer 2004; 90: 882 – 7. | en_US |
dc.identifier.citedreference | Yan H, Papadopoulos N, Marra G, Perrera C, Jiricny J, Boland CR, Lynch HT, Chadwick RB, de la Chapelle A, Berg K, Eshleman JR, Yuan W, et al. Conversion of diploidy to haploidy. Nature 2000; 403: 723 – 4. | en_US |
dc.identifier.citedreference | Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Clendenning M, Sotamaa K, Prior T, Westman J, Panescu J, Fix D, et al. Feasibility of screening for Lynch syndrome among colorectal cancer patients. J Clin Oncol 2008; 26: 5783 – 8. | en_US |
dc.identifier.citedreference | Hampel H, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, LaJeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, de la Chapelle A, et al. Comment on: screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2007; 67: 9603. | en_US |
dc.identifier.citedreference | Genin E, Tullio‐Pelet A, Begeot F, Lyonnet S, Abel L. Estimating the age of rare disease mutations: the example of Triple‐A syndrome. J Med Genet 2004; 41: 445 – 9. | en_US |
dc.identifier.citedreference | Clendenning M, Senter L, Hampel H, Robinson KL, Sun S, Buchanan D, Walsh MD, Nilbert M, Green J, Potter J, Lindblom A, de la Chapelle A. A frame‐shift mutation of PMS2 is a widespread cause of Lynch syndrome. J Med Genet 2008; 45: 340 – 5. | en_US |
dc.identifier.citedreference | Pritchard JK, Seielstad MT, Perez‐Lezaun A, Feldman MW. Population growth of human Y chromosomes: a study of Y chromosome microsatellites. Mol Biol Evol 1999; 16: 1791 – 8. | en_US |
dc.identifier.citedreference | Reeve JP, Rannala B. DMLE+: Bayesian linkage disequilibrium gene mapping. Bioinformatics 2002; 18: 894 – 5. | en_US |
dc.identifier.citedreference | Moisio AL, Sistonen P, Weissenbach J, de la Chapelle A, Peltomäki P. Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet 1996; 59: 1243 – 51. | en_US |
dc.identifier.citedreference | Hampel H, Frankel W, Panescu J, Lockman J, Sotamaa K, Fix D, Comeras I, La Jeunesse J, Nakagawa H, Westman JA, Prior TW, Clendenning M, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res 2006; 66: 7810 – 7. | en_US |
dc.identifier.citedreference | Syngal S, Fox EA, Li C, Dovidio M, Eng C, Kolodner RD, Garber JE. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing. JAMA 1999; 282: 247 – 53. | en_US |
dc.identifier.citedreference | Nyström‐Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, Järvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B. Founding mutations and Alu‐mediated recombination in hereditary colon cancer. Nat Med 1995; 1: 1203 – 6. | en_US |
dc.identifier.citedreference | Stephens M, Donnelly P. A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003; 73: 1162 – 9. | en_US |
dc.identifier.citedreference | Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978 – 89. | en_US |
dc.identifier.citedreference | Barnetson RA, Cartwright N, van Vliet A, Haq N, Drew K, Farrington S, Williams N, Warner J, Campbell H, Porteous ME, Dunlop MG. Classification of ambiguous mutations in DNA mismatch repair genes identified in a population‐based study of colorectal cancer. Hum Mutat 2008; 29: 367 – 74. | en_US |
dc.identifier.citedreference | Offer SM, Pan‐Hammarström Q, Hammarström L, Harris RS. Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID. PLoS One 2010; 5: e12260. | en_US |
dc.identifier.citedreference | Dieumegard B, Grandjouan S, Sabourin JC, Le Bihan ML, Lefrère I, Bellefqih, Pignon JP, Rougier P, Lasser P, Bénard J, Couturier D, Bressac‐de Paillerets B. Extensive molecular screening for hereditary non‐polyposis colorectal cancer. Br J Cancer 2000; 82: 871 – 80. | en_US |
dc.identifier.citedreference | Kowalski LD, Mutch DG, Herzog TJ, Rader JS, Goodfellow PJ. Mutational analysis of MLH1 and MSH2 in 25 prospectively‐acquired RER+ endometrial cancers. Genes Chromosomes Cancer 1997; 18: 219 – 27. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.