{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T12:14:54Z","timestamp":1789820094909,"version":"4.0.1"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2014,2,12]],"date-time":"2014-02-12T00:00:00Z","timestamp":1392163200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2014,11]]},"DOI":"10.1038\/ejhg.2014.15","type":"journal-article","created":{"date-parts":[[2014,2,12]],"date-time":"2014-02-12T11:27:22Z","timestamp":1392204442000},"page":"1334-1337","source":"Crossref","is-referenced-by-count":101,"title":["Biallelic MUTYH mutations can mimic Lynch syndrome"],"prefix":"10.1038","volume":"22","author":[{"given":"Monika","family":"Morak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Heidenreich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gisela","family":"Keller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Hampel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Laner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"de la Chapelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"Holinski-Feder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,2,12]]},"reference":[{"key":"BFejhg201415_CR1","first-page":"801","volume":"36","author":"HT Lynch","year":"1999","unstructured":"Lynch HT, de la Chapelle A : Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 1999; 36: 801\u2013818.","journal-title":"J Med Genet"},{"key":"BFejhg201415_CR2","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.cancergencyto.2007.01.008","volume":"175","author":"U Koehler","year":"2007","unstructured":"Koehler U, Grabowski M, Bacher U, Holinski-Feder E : A new interphase fluorescence in situ hybridization approach for genomic rearrangements involving MLH1 and MSH6 in hereditary nonpolyposis colorectal cancer-suspected mutation-negative patients. Cancer Genet Cytogenet 2007; 175: 81\u201384.","journal-title":"Cancer Genet Cytogenet"},{"key":"BFejhg201415_CR3","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1136\/jmedgenet-2011-100050","volume":"48","author":"M Morak","year":"2011","unstructured":"Morak M, Koehler U, Schackert HK et al: Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome. J Med Genet 2011; 48: 513\u2013519.","journal-title":"J Med Genet"},{"key":"BFejhg201415_CR4","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1002\/humu.9370","volume":"26","author":"G Aceto","year":"2005","unstructured":"Aceto G, Cristina Curia M, Veschi S et al: Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli. Hum Mutat 2005; 26: 394.","journal-title":"Hum Mutat"},{"key":"BFejhg201415_CR5","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1002\/ijc.21905","volume":"119","author":"S Aretz","year":"2006","unstructured":"Aretz S, Uhlhaas S, Goergens H et al: MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer 2006; 119: 807\u2013814.","journal-title":"Int J Cancer"},{"key":"BFejhg201415_CR6","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1056\/NEJMoa025283","volume":"348","author":"OM Sieber","year":"2003","unstructured":"Sieber OM, Lipton L, Crabtree M et al: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 2003; 348: 791\u2013799.","journal-title":"N Engl J Med"},{"key":"BFejhg201415_CR7","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1038\/ng828","volume":"30","author":"N Al-Tassan","year":"2002","unstructured":"Al-Tassan N, Chmiel NH, Maynard J et al: Inherited variants of MYH associated with somatic G:C\u2014>T:A mutations in colorectal tumors. Nat Genet 2002; 30: 227\u2013232.","journal-title":"Nat Genet"},{"key":"BFejhg201415_CR8","doi-asserted-by":"publisher","first-page":"2961","DOI":"10.1093\/hmg\/11.23.2961","volume":"11","author":"S Jones","year":"2002","unstructured":"Jones S, Emmerson P, Maynard J et al: Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C\u2014>T:A mutations. Hum Mol Genet 2002; 11: 2961\u20132967.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201415_CR9","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1111\/j.1399-0004.2010.01478.x","volume":"78","author":"M Morak","year":"2010","unstructured":"Morak M, Laner A, Bacher U, Keiling C, Holinski-Feder E : MUTYH-associated polyposis - variability of the clinical phenotype in patients with biallelic and monoallelic MUTYH mutations and report on novel mutations. Clin Genet 2010; 78: 353\u2013363.","journal-title":"Clin Genet"},{"key":"BFejhg201415_CR10","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1007\/s10689-010-9367-0","volume":"9","author":"JH Lefevre","year":"2010","unstructured":"Lefevre JH, Colas C, Coulet F et al: MYH biallelic mutation can inactivate the two genetic pathways of colorectal cancer by APC or MLH1 transversions. Fam Cancer 2010; 9: 589\u2013594.","journal-title":"Fam Cancer"},{"key":"BFejhg201415_CR11","doi-asserted-by":"publisher","first-page":"1239","DOI":"10.1038\/sj.bjc.6603421","volume":"95","author":"A Colebatch","year":"2006","unstructured":"Colebatch A, Hitchins M, Williams R, Meagher A, Hawkins NJ, Ward RL : The role of MYH and microsatellite instability in the development of sporadic colorectal cancer. Br J Cancer 2006; 95: 1239\u20131243.","journal-title":"Br J Cancer"},{"key":"BFejhg201415_CR12","doi-asserted-by":"publisher","first-page":"1251","DOI":"10.1053\/j.gastro.2008.12.050","volume":"136","author":"SP Cleary","year":"2009","unstructured":"Cleary SP, Cotterchio M, Jenkins MA et al: Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study. Gastroenterology 2009; 136: 1251\u20131260.","journal-title":"Gastroenterology"},{"key":"BFejhg201415_CR13","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1007\/s10689-012-9570-2","volume":"12","author":"AP Knopperts","year":"2013","unstructured":"Knopperts AP, Nielsen M, Niessen RC et al: Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review. Fam Cancer 2013; 12: 43\u201350.","journal-title":"Fam Cancer"},{"key":"BFejhg201415_CR14","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1158\/1078-0432.CCR-07-1705","volume":"14","author":"M van Puijenbroek","year":"2008","unstructured":"van Puijenbroek M, Nielsen M, Tops CM et al: Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G>T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue. Clin Cancer Res 2008; 14: 139\u2013142.","journal-title":"Clin Cancer Res"},{"key":"BFejhg201415_CR15","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/gcc.20011","volume":"40","author":"T Kambara","year":"2004","unstructured":"Kambara T, Whitehall VL, Spring KJ et al: Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer 2004; 40: 1\u20139.","journal-title":"Genes Chromosomes Cancer"},{"key":"BFejhg201415_CR16","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1111\/j.1365-2559.2008.03071.x","volume":"53","author":"AM O'Shea","year":"2008","unstructured":"O'Shea AM, Cleary SP, Croitoru MA et al: Pathological features of colorectal carcinomas in MYH-associated polyposis. Histopathology 2008; 53: 184\u2013194.","journal-title":"Histopathology"},{"key":"BFejhg201415_CR17","doi-asserted-by":"publisher","first-page":"5402","DOI":"10.1158\/1078-0432.CCR-10-1491","volume":"16","author":"MD Giraldez","year":"2010","unstructured":"Giraldez MD, Balaguer F, Bujanda L et al: MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer. Clin Cancer Res 2010; 16: 5402\u20135413.","journal-title":"Clin Cancer Res"},{"key":"BFejhg201415_CR18","doi-asserted-by":"publisher","first-page":"672","DOI":"10.3109\/00365521.2013.783102","volume":"48","author":"T Tanskanen","year":"2013","unstructured":"Tanskanen T, Gylfe AE, Katainen R et al: Exome sequencing in diagnostic evaluation of colorectal cancer predisposition in young patients. Scand J Gastroenterol 2013; 48: 672\u2013678.","journal-title":"Scand J Gastroenterol"},{"key":"BFejhg201415_CR19","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1053\/j.gastro.2004.03.070","volume":"127","author":"L Wang","year":"2004","unstructured":"Wang L, Baudhuin LM, Boardman LA et al: MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps. Gastroenterology 2004; 127: 9\u201316.","journal-title":"Gastroenterology"},{"key":"BFejhg201415_CR20","doi-asserted-by":"publisher","first-page":"857","DOI":"10.1007\/s13277-011-0312-0","volume":"33","author":"E Urso","year":"2012","unstructured":"Urso E, Agostini M, Pucciarelli S et al: Clinical and molecular detection of inherited colorectal cancers in northeast Italy: a first prospective study of incidence of Lynch syndrome and MUTYH-related colorectal cancer in Italy. Tumour Biol 2012; 33: 857\u2013864.","journal-title":"Tumour Biol"},{"key":"BFejhg201415_CR21","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1093\/jnci\/djh034","volume":"96","author":"A Umar","year":"2004","unstructured":"Umar A, Boland CR, Terdiman JP et al: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004; 96: 261\u2013268.","journal-title":"J Natl Cancer Inst"},{"issue":"7","key":"BFejhg201415_CR22","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1038\/ejhg.2012.309","volume":"22","author":"Stefan Aretz","year":"2013","unstructured":"Aretz S, Tricarico R, Papi L et al: MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events. Eur J Hum Genet 2013, e-pub ahead of print 30 January 2013 doi:10.1038\/ejhg.2012.309.","journal-title":"European Journal of Human Genetics"},{"key":"BFejhg201415_CR23","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1186\/1471-2407-9-184","volume":"9","author":"M Nielsen","year":"2009","unstructured":"Nielsen M, de Miranda NF, van Puijenbroek M et al: Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas. BMC Cancer 2009; 9: 184.","journal-title":"BMC Cancer"},{"key":"BFejhg201415_CR24","doi-asserted-by":"publisher","first-page":"1976","DOI":"10.1053\/j.gastro.2009.08.052","volume":"137","author":"S Vogt","year":"2009","unstructured":"Vogt S, Jones N, Christian D et al: Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology 2009; 137: 1976\u20131985, e1\u201310.","journal-title":"Gastroenterology"},{"key":"BFejhg201415_CR25","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1007\/s10549-010-0801-7","volume":"124","author":"M Wasielewski","year":"2010","unstructured":"Wasielewski M, Out AA, Vermeulen J et al: Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer. Breast Cancer Res Treat 2010; 124: 635\u2013641.","journal-title":"Breast Cancer Res Treat"},{"key":"BFejhg201415_CR26","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1002\/gcc.20556","volume":"47","author":"JM Chen","year":"2008","unstructured":"Chen JM : The 10-Mb paracentric inversion of chromosome arm 2p in activating MSH2 and causing hereditary nonpolyposis colorectal cancer: re-annotation and mutational mechanisms. Genes Chromosomes Cancer 2008; 47: 543\u2013545.","journal-title":"Genes Chromosomes Cancer"},{"key":"BFejhg201415_CR27","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1002\/gcc.10094","volume":"35","author":"A Wagner","year":"2002","unstructured":"Wagner A, van der Klift H, Franken P et al: A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred. Genes Chromosomes Cancer 2002; 35: 49\u201357.","journal-title":"Genes Chromosomes Cancer"},{"key":"BFejhg201415_CR28","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1002\/humu.21260","volume":"31","author":"DN Cooper","year":"2010","unstructured":"Cooper DN, Chen JM, Ball EV et al: Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Hum Mutat 2010; 31: 631\u2013655.","journal-title":"Hum Mutat"},{"key":"BFejhg201415_CR29","doi-asserted-by":"publisher","first-page":"768","DOI":"10.1086\/507912","volume":"79","author":"EL Webb","year":"2006","unstructured":"Webb EL, Rudd MF, Houlston RS : Colorectal cancer risk in monoallelic carriers of MYH variants. Am J Hum Genet 2006; 79: 768\u2013771, author reply 771-762.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201415_CR30","doi-asserted-by":"publisher","first-page":"1711","DOI":"10.1007\/s10620-009-0916-z","volume":"55","author":"M Casper","year":"2010","unstructured":"Casper M, Plotz G, Juengling B, Trojan J, Lammert F, Raedle J : Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development. Dig Dis Sci 2010; 55: 1711\u20131715.","journal-title":"Dig Dis Sci"},{"key":"BFejhg201415_CR31","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1007\/s10552-004-3488-4","volume":"16","author":"LL Strate","year":"2005","unstructured":"Strate LL, Syngal S : Hereditary colorectal cancer syndromes. Cancer Causes Control 2005; 16: 201\u2013213.","journal-title":"Cancer Causes Control"},{"key":"BFejhg201415_CR32","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1053\/j.gastro.2013.01.044","volume":"144","author":"M Rodriguez-Soler","year":"2013","unstructured":"Rodriguez-Soler M, Perez-Carbonell L, Guarinos C et al: Risk of cancer in cases of suspected lynch syndrome without germline mutation. Gastroenterology 2013; 144: 926\u2013932, e921; quiz e913-924.","journal-title":"Gastroenterology"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201415.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201415","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201415.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:11:35Z","timestamp":1684429895000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201415"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,12]]},"references-count":32,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["BFejhg201415"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2014.15","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,2,12]]}}}