{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:11:04Z","timestamp":1791040264438,"version":"4.1.0"},"reference-count":57,"publisher":"Hindawi Limited","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":2740,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2008,3]]},"DOI":"10.1002\/humu.20635","type":"journal-article","created":{"date-parts":[[2007,11,21]],"date-time":"2007-11-21T16:46:30Z","timestamp":1195663590000},"page":"367-374","source":"Crossref","is-referenced-by-count":69,"title":["Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer"],"prefix":"10.1155","volume":"29","author":[{"given":"Rebecca A.","family":"Barnetson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Cartwright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelot","family":"van Vliet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naila","family":"Haq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Drew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan","family":"Farrington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Warner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harry","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary E.","family":"Porteous","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malcolm G.","family":"Dunlop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","reference":[{"key":"10.1002\/humu.20635-BIB1","doi-asserted-by":"crossref","first-page":"1481","DOI":"10.1056\/NEJM199805213382101","article-title":"Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease","volume":"338","author":"Aaltonen","year":"1998","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.20635-BIB2","first-page":"3920","article-title":"Germ-line mutation of the hMSH6\/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred","volume":"57","author":"Akiyama","year":"1997","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20635-BIB3","doi-asserted-by":"crossref","first-page":"2751","DOI":"10.1056\/NEJMoa053493","article-title":"Identification and survival of carriers of mutations in DNA mismatch-repair genes in colorectal cancer","volume":"354","author":"Barnetson","year":"2006","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.20635-BIB4","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1038\/sj.ejhg.5201628","article-title":"Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features","volume":"14","author":"Belvederesi","year":"2006","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20635-BIB5","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1086\/337944","article-title":"Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant","volume":"70","author":"Berends","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20635-BIB6","doi-asserted-by":"crossref","first-page":"9036","DOI":"10.1158\/0008-5472.CAN-06-1896","article-title":"A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene","volume":"66","author":"Blasi","year":"2006","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20635-BIB7","first-page":"5248","article-title":"A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer","volume":"58","author":"Boland","year":"1998","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20635-BIB8","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/368258a0","article-title":"Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer","volume":"368","author":"Bronner","year":"1994","journal-title":"Nature"},{"key":"10.1002\/humu.20635-BIB9","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1007\/s004390000417","article-title":"Do MSH6 mutations contribute to double primary cancers of the colorectum and endometrium?","volume":"107","author":"Charames","year":"2000","journal-title":"Hum Genet"},{"key":"10.1002\/humu.20635-BIB10","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1136\/gut.50.3.405","article-title":"Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing","volume":"50","author":"Cravo","year":"2002","journal-title":"Gut"},{"key":"10.1002\/humu.20635-BIB11","doi-asserted-by":"crossref","first-page":"5770","DOI":"10.3748\/wjg.v11.i37.5770","article-title":"Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain","volume":"11","author":"de Abajo","year":"2005","journal-title":"World J Gastroenterol"},{"key":"10.1002\/humu.20635-BIB12","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1054\/bjoc.1999.1014","article-title":"Extensive molecular screening for hereditary non-polyposis colorectal cancer","volume":"82","author":"Dieumegard","year":"2000","journal-title":"Br J Cancer"},{"key":"10.1002\/humu.20635-BIB13","doi-asserted-by":"crossref","first-page":"907","DOI":"10.1016\/S0960-9822(99)80396-0","article-title":"Mutator phenotypes of common polymorphisms and missense mutations in MSH2","volume":"9","author":"Drotschmann","year":"1999","journal-title":"Curr Biol"},{"key":"10.1002\/humu.20635-BIB14","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1093\/hmg\/6.1.105","article-title":"Cancer risk associated with germline DNA mismatch repair gene mutations","volume":"6","author":"Dunlop","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20635-BIB15","doi-asserted-by":"crossref","first-page":"1889","DOI":"10.1093\/hmg\/10.18.1889","article-title":"Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae","volume":"10","author":"Ellison","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20635-BIB16","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1086\/301996","article-title":"Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls","volume":"63","author":"Farrington","year":"1998","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.20635-BIB17","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1016\/0092-8674(93)90546-3","article-title":"The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer [published erratum appears in Cell 1994 Apr 8;77(1):167]","volume":"75","author":"Fishel","year":"1993","journal-title":"Cell"},{"key":"10.1002\/humu.20635-BIB18","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1136\/jmg.33.9.726","article-title":"Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome","volume":"33","author":"Froggatt","year":"1996","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20635-BIB19","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1002\/(SICI)1097-0215(19980316)75:6<835::AID-IJC4>3.0.CO;2-W","article-title":"MLH1 and MSH2 constitutional mutations in colorectal cancer families not meeting the standard criteria for hereditary nonpolyposis colorectal cancer","volume":"75","author":"Genuardi","year":"1998","journal-title":"Int J Cancer"},{"key":"10.1002\/humu.20635-BIB20","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1038\/sj.ejhg.5200363","article-title":"Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2","volume":"7","author":"Genuardi","year":"1999","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.20635-BIB21","doi-asserted-by":"crossref","first-page":"6336","DOI":"10.1074\/jbc.274.10.6336","article-title":"The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer","volume":"274","author":"Guerrette","year":"1999","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20635-BIB22","doi-asserted-by":"crossref","first-page":"1851","DOI":"10.1056\/NEJMoa043146","article-title":"Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer)","volume":"352","author":"Hampel","year":"2005","journal-title":"N Engl J Med"},{"key":"10.1002\/humu.20635-BIB23","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1002\/(SICI)1097-0142(19990615)85:12<2512::AID-CNCR4>3.0.CO;2-G","article-title":"Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer","volume":"85","author":"Heinimann","year":"1999","journal-title":"Cancer"},{"key":"10.1002\/humu.20635-BIB24","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/(SICI)1098-2264(199701)18:1<42::AID-GCC5>3.0.CO;2-1","article-title":"Mutations in MLH1 are more frequent than in MSH2 in sporadic colorectal cancers with microsatellite instability","volume":"18","author":"Herfarth","year":"1997","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1002\/humu.20635-BIB25","doi-asserted-by":"crossref","first-page":"6870","DOI":"10.1073\/pnas.95.12.6870","article-title":"Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma","volume":"95","author":"Herman","year":"1998","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.20635-BIB26","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/1098-1004(2001)17:1<52::AID-HUMU6>3.0.CO;2-E","article-title":"Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genes","volume":"17","author":"Jakubowska","year":"2001","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20635-BIB27","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1093\/hmg\/11.11.1303","article-title":"Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome","volume":"11","author":"Kariola","year":"2002","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.20635-BIB28","first-page":"5068","article-title":"Germ-line MSH6 mutations in colorectal cancer families","volume":"59","author":"Kolodner","year":"1999","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20635-BIB29","first-page":"3302","article-title":"A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations","volume":"63","author":"Kondo","year":"2003","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20635-BIB30","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1002\/(SICI)1098-2264(199703)18:3<219::AID-GCC8>3.0.CO;2-4","article-title":"Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+endometrial cancers","volume":"18","author":"Kowalski","year":"1997","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1002\/humu.20635-BIB31","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1093\/jnci\/djk051","article-title":"Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics","volume":"99","author":"Lagerstedt Robinson","year":"2007","journal-title":"J Natl Cancer Inst"},{"key":"10.1002\/humu.20635-BIB32","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1016\/0092-8674(93)90330-S","article-title":"Mutations of a muts homolog in hereditary nonpolyposis colorectal cancer","volume":"75","author":"Leach","year":"1993","journal-title":"Cell"},{"key":"10.1002\/humu.20635-BIB33","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1038\/ng1374","article-title":"The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer","volume":"36","author":"Lipkin","year":"2004","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20635-BIB34","first-page":"1981","article-title":"MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility","volume":"34","author":"Liu","year":"1998","journal-title":"Eur J Cancer"},{"key":"10.1002\/humu.20635-BIB35","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1007\/s004390051127","article-title":"Missense mutations in hMLH1 associated with colorectal cancer","volume":"105","author":"Liu","year":"1999","journal-title":"Hum Genet"},{"key":"10.1002\/humu.20635-BIB36","first-page":"5728","article-title":"Identification of novel germline hMLH1 mutations including a 22\u2009kb Alu-mediated deletion in patients with familial colorectal cancer","volume":"56","author":"Mauillon","year":"1996","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20635-BIB37","first-page":"473","article-title":"Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary nonpolyposis colorectal cancer) patients: mutations or polymorphisms?","volume":"6","author":"Muller-Koch","year":"2001","journal-title":"Eur J Med Res"},{"key":"10.1002\/humu.20635-BIB38","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1101\/gr.176601","article-title":"Predicting deleterious amino acid substitutions","volume":"11","author":"Ng","year":"2001","journal-title":"Genome Res"},{"key":"10.1002\/humu.20635-BIB39","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1002\/gcc.1225","article-title":"Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer","volume":"33","author":"Nystrom-Lahti","year":"2002","journal-title":"Genes Chromosomes Cancer"},{"key":"10.1002\/humu.20635-BIB40","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/1098-1004(200007)16:1<61::AID-HUMU11>3.0.CO;2-H","article-title":"Evaluation of enzymatic mutation detection trade mark in hereditary nonpolyposis colorectal cancer","volume":"16","author":"Otway","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20635-BIB41","doi-asserted-by":"crossref","first-page":"4465","DOI":"10.1128\/MCB.17.8.4465","article-title":"Functional domains of the Saccharomyces cerevisiae Mlh1p and Pms1p DNA mismatch repair proteins and their relevance to human hereditary nonpolyposis colorectal cancer-associated mutations","volume":"17","author":"Pang","year":"1997","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20635-BIB42","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1126\/science.8128251","article-title":"Mutation of a mutL homolog in hereditary colon cancer","volume":"263","author":"Papadopoulos","year":"1994","journal-title":"Science"},{"key":"10.1002\/humu.20635-BIB43","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1136\/jmg.2004.024299","article-title":"Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment","volume":"42","author":"Quehenberger","year":"2005","journal-title":"J Med Genet"},{"key":"10.1002\/humu.20635-BIB44","first-page":"537","article-title":"Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1","volume":"129","author":"Raevaara","year":"2005","journal-title":"Gastroenterology"},{"key":"10.1002\/humu.20635-BIB45","doi-asserted-by":"crossref","first-page":"1758","DOI":"10.1093\/jnci\/89.23.1758","article-title":"A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda Guidelines","volume":"89","author":"Rodriguez-Bigas","year":"1997","journal-title":"J Natl Cancer Inst"},{"key":"10.1002\/humu.20635-BIB46","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1053\/gast.2001.27996","article-title":"The colon cancer burden of genetically defined hereditary nonpolyposis colon cancer","volume":"121","author":"Samowitz","year":"2001","journal-title":"Gastroenterology"},{"key":"10.1002\/humu.20635-BIB47","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/(SICI)1098-1004(1997)9:2<164::AID-HUMU9>3.0.CO;2-9","article-title":"Mutational analysis of the hMLH1 gene using an automated two-dimensional DNA typing system","volume":"9","author":"Sasaki","year":"1997","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.20635-BIB48","doi-asserted-by":"crossref","first-page":"33011","DOI":"10.1074\/jbc.M102670200","article-title":"The interaction of DNA mismatch repair proteins with human exonuclease I","volume":"276","author":"Schmutte","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.20635-BIB49","doi-asserted-by":"crossref","first-page":"3177","DOI":"10.1128\/MCB.19.4.3177","article-title":"Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for MLH1 mutations","volume":"19","author":"Shcherbakova","year":"1999","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.20635-BIB50","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1038\/1277","article-title":"Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae","volume":"19","author":"Shimodaira","year":"1998","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20635-BIB51","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1001\/jama.282.3.247","article-title":"Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing","volume":"282","author":"Syngal","year":"1999","journal-title":"JAMA"},{"key":"10.1002\/humu.20635-BIB52","doi-asserted-by":"crossref","first-page":"4595","DOI":"10.1158\/0008-5472.CAN-06-3509","article-title":"Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays","volume":"67","author":"Takahashi","year":"2007","journal-title":"Cancer Res"},{"key":"10.1002\/humu.20635-BIB53","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1007\/BF02053699","article-title":"The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC)","volume":"34","author":"Vasen","year":"1991","journal-title":"Dis Colon Rectum"},{"key":"10.1002\/humu.20635-BIB54","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1053\/gast.1996.v110.pm8612988","article-title":"Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis","volume":"110","author":"Vasen","year":"1996","journal-title":"Gastroenterology"},{"key":"10.1002\/humu.20635-BIB55","first-page":"79","article-title":"Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer","volume":"105","author":"Wang","year":"1999","journal-title":"Hum Genet"},{"key":"10.1002\/humu.20635-BIB56","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1038\/13773","article-title":"Familial endometrial cancer in female carriers of MSH6 germline mutations","volume":"23","author":"Wijnen","year":"1999","journal-title":"Nat Genet"},{"key":"10.1002\/humu.20635-BIB57","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1086\/302612","article-title":"Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations","volume":"65","author":"Wu","year":"1999","journal-title":"Am J Hum Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.20635","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.20635","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:51:24Z","timestamp":1672332684000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.20635"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,3]]},"references-count":57,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,3]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.20635","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,3]]}}}