{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T12:04:30Z","timestamp":1787313870903,"version":"build-2736575974"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,10,13]],"date-time":"2006-10-13T00:00:00Z","timestamp":1160697600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2007,3]]},"DOI":"10.1007\/s10689-006-9103-y","type":"journal-article","created":{"date-parts":[[2006,10,12]],"date-time":"2006-10-12T14:14:49Z","timestamp":1160662489000},"page":"43-51","source":"Crossref","is-referenced-by-count":20,"title":["The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family"],"prefix":"10.1007","volume":"6","author":[{"given":"Marjo","family":"van Puijenbroek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maartje","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske H. C. M.","family":"Reinards","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjan M.","family":"Weiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anja","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne M. C.","family":"Hendriks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans F. A.","family":"Vasen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carli M. J.","family":"Tops","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juul","family":"Wijnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"van Wezel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederik J.","family":"Hes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Morreau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,10,13]]},"reference":[{"key":"9103_CR1","doi-asserted-by":"crossref","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 (2002) Inherited variants of MYH associated with somatic G:C\u2192T:A mutations in colorectal tumours. Nat Genet 30:227\u2013232","journal-title":"Nat Genet"},{"key":"9103_CR2","doi-asserted-by":"crossref","first-page":"1149","DOI":"10.1002\/(SICI)1097-0142(19960915)78:6<1149::AID-CNCR1>3.0.CO;2-5","volume":"78","author":"HT Lynch","year":"1996","unstructured":"Lynch HT, Smyrk T (1996) Hereditary nonpolyposis colorectal cancer; an updated review. Cancer 78:1149\u20131167","journal-title":"Cancer"},{"key":"9103_CR3","first-page":"3455","volume":"58","author":"JM Cunningham","year":"1998","unstructured":"Cunningham JM, Christensen ER, Tester DJ (1998) Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 58:3455\u20133460","journal-title":"Cancer Res"},{"key":"9103_CR4","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1038\/362709a0","volume":"362","author":"T Lindahl","year":"1993","unstructured":"Lindahl T (1993) Instability and decay of the primary structure of DNA. Nature 362:709\u2013715","journal-title":"Nature"},{"key":"9103_CR5","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1093\/hmg\/10.7.735","volume":"10","author":"P Peltomaki","year":"2001","unstructured":"Peltomaki P (2001) Deficient DNA mismatch repair; a common etiologic factor for colon cancer. Hum Mol Genet 10:735\u2013740","journal-title":"Hum Mol Genet"},{"key":"9103_CR6","first-page":"7595","volume":"63","author":"L Lipton","year":"2003","unstructured":"Lipton L, Halford SE, Johnson V et al (2003) Carcinogenesis in MYH-associated polyposis follows a distinct genetic pathway. Cancer Res 63:7595\u20137599","journal-title":"Cancer Res"},{"key":"9103_CR7","doi-asserted-by":"crossref","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 (2002) Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C\u2192T:A mutations. Hum Mol Genet 11:2961\u20132967","journal-title":"Hum Mol Genet"},{"key":"9103_CR8","doi-asserted-by":"crossref","first-page":"2303","DOI":"10.1093\/hmg\/ddh238","volume":"13","author":"C Oliveira","year":"2004","unstructured":"Oliveira C, Westra JL, Arango D et al (2004) Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status. Hum Mol Genet 13:2303\u20132311","journal-title":"Hum Mol Genet"},{"key":"9103_CR9","doi-asserted-by":"crossref","first-page":"9049","DOI":"10.1073\/pnas.93.17.9049","volume":"93","author":"J Huang","year":"1996","unstructured":"Huang J, Papadopoulos N, McKinley AJ et al (1996) APC mutations in colorectal tumours with mismatch repair deficiency. Proc Natl Acad Sci USA 93:9049\u20139054","journal-title":"Proc Natl Acad Sci USA"},{"key":"9103_CR10","doi-asserted-by":"crossref","first-page":"8260","DOI":"10.1074\/jbc.M111269200","volume":"277","author":"A Mazurek","year":"2002","unstructured":"Mazurek A, Berardini M, Fishel R (2002) Activation of human MutS homologs by 8-oxo-guanine DNA damage. J Biol Chem 277:8260\u20138266","journal-title":"J Biol Chem"},{"key":"9103_CR11","doi-asserted-by":"crossref","first-page":"11135","DOI":"10.1074\/jbc.M108618200","volume":"277","author":"YS Gu","year":"2002","unstructured":"Gu YS, Parker A, Wilson TM, Bai HB, Chang DY, Lu AL (2002) Human MutY homolog, a DNA glycosylase involved in base excision repair, physically and functionally interacts with mismatch repair proteins human MutS homolog 2\/human MutS homolog 6. J Biol Chem 277:11135\u201311142","journal-title":"J Biol Chem"},{"key":"9103_CR12","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1136\/jmg.38.5.318","volume":"38","author":"A Wagner","year":"2001","unstructured":"Wagner A, Hendriks Y, Meijers-Heijboer EJ et al (2001) A typical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. J Med Genet 38:318\u2013322","journal-title":"J Med Genet"},{"key":"9103_CR13","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1038\/13773","volume":"23","author":"J Wijnen","year":"1999","unstructured":"Wijnen J, de Leeuw W, Vasen H et al (1999) Familial endometrial cancer in female carriers of MSH6 germline mutations. Nat Genet 23:142\u2013144","journal-title":"Nat Genet"},{"key":"9103_CR14","doi-asserted-by":"crossref","unstructured":"Nielsen M, Franken PF, Reinards THCM et al (2005) Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP). J Med Genet 42:e54","DOI":"10.1136\/jmg.2005.033217"},{"key":"9103_CR15","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1158\/1078-0432.CCR-0956-3","volume":"10","author":"AE Jong De","year":"2004","unstructured":"De Jong AE, van Puijenbroek M, Hendriks Y et al (2004) Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer. Clin Cancer Res 10:972\u2013980","journal-title":"Clin Cancer Res"},{"key":"9103_CR16","doi-asserted-by":"crossref","unstructured":"Nielsen M, Poley JW, Verhoef S et al (2006) Duodenal carcinoma in MUTYH-associated polyposis coli. J Clin Pathol (in press)","DOI":"10.1136\/jcp.2005.031757"},{"key":"9103_CR17","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/S1525-1578(10)60596-X","volume":"7","author":"M Puijenbroek Van","year":"2005","unstructured":"Van Puijenbroek M, Dierssen JW, Stanssens P et al (2005) Mass spectrometry-based loss of heterozygosity analysis of single-nucleotide polymorphism loci in paraffin embedded tumours using the MassEXTEND assay: single-nucleotide polymorphism loss of heterozygosity analysis of the protein tyrosine phosphatase receptor type J in familial colorectal cancer. J Mol Diagn 7:623\u2013630","journal-title":"J Mol Diagn"},{"key":"9103_CR18","doi-asserted-by":"crossref","first-page":"5547","DOI":"10.1074\/jbc.M008463200","volume":"276","author":"A Parker","year":"2001","unstructured":"Parker A, Gu Y, Mahoney W, Lee SH, Singh KK, Lu AL (2001) Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair. J Biol Chem 276:5547\u20135555","journal-title":"J Biol Chem"},{"key":"9103_CR19","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1093\/jnci\/djh288","volume":"96","author":"ME Croitoru","year":"2004","unstructured":"Croitoru ME, Cleary SP, Di Nicola N et al (2004) Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst 96:1631\u20131634","journal-title":"J Natl Cancer Inst"},{"key":"9103_CR20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/gcc.20011","volume":"40","author":"T Kambara","year":"2004","unstructured":"Kambara T, Whitehall VL, Spring KJ et al (2004) Role of inherited defects of MYH in the development of sporadic colorectal cancer. Genes Chromosomes Cancer 40:1\u20139","journal-title":"Genes Chromosomes Cancer"},{"key":"9103_CR21","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1007\/s00439-005-0118-5","volume":"119","author":"RC Niessen","year":"2006","unstructured":"Niessen RC, Sijmons RH, Ou J et al (2006) MUTYH and the mismatch repair system: partners in crime? Hum Genet 119:206\u2013211","journal-title":"Hum Genet"},{"key":"9103_CR22","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1007\/s00384-005-0764-z","volume":"20","author":"C Soravia","year":"2005","unstructured":"Soravia C, DeLozier CD, Dobbie Z et al (2005) Double frameshift mutations in APC and MSH2 in the same individual. Int J Colorectal Dis 20:466\u2013470","journal-title":"Int J Colorectal Dis"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-006-9103-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-006-9103-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-006-9103-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T17:45:55Z","timestamp":1559238355000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-006-9103-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,10,13]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,3]]}},"alternative-id":["9103"],"URL":"https:\/\/doi.org\/10.1007\/s10689-006-9103-y","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,10,13]]}}}