{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T18:04:59Z","timestamp":1790532299143,"version":"4.1.0"},"reference-count":27,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2002,12,1]],"date-time":"2002-12-01T00:00:00Z","timestamp":1038700800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3883,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2002,12]]},"DOI":"10.1086\/345075","type":"journal-article","created":{"date-parts":[[2002,12,4]],"date-time":"2002-12-04T18:01:46Z","timestamp":1039024906000},"page":"1395-1412","source":"Crossref","is-referenced-by-count":115,"title":["The Founder Mutation MSH2*1906G\u2192C Is an Important Cause of Hereditary Nonpolyposis Colorectal Cancer in the Ashkenazi Jewish Population"],"prefix":"10.1016","volume":"71","author":[{"given":"W.D.","family":"Foulkes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Thiffault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.B.","family":"Gruber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Horwitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Shia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Markowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Figer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Friedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Farber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. M.T.","family":"Greenwood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.D.","family":"Bonner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Nafa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Walsh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Marcus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Tomsho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Gebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.A.","family":"Macrae","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.L.","family":"Gaff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. Bressac-de","family":"Paillerets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.K.","family":"Gregersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.N.","family":"Weitzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.H.","family":"Gordon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"MacNamara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.-C.","family":"King","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hampel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"de la Chapelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Boyd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Offit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Rennert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Chong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.A.","family":"Ellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/345075_bib9","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":"10.1086\/345075_bib10","first-page":"3288","article-title":"Inhibition of nonsense-mediated messenger RNA decay in clinical samples facilitates detection of human MSH2 mutations with an in vivo fusion protein assay and conventional techniques","volume":"57","author":"Andreutti-Zaugg","year":"1997","journal-title":"Cancer Res"},{"key":"10.1086\/345075_bib11","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":"10.1086\/345075_bib12","doi-asserted-by":"crossref","first-page":"2260","DOI":"10.1001\/jama.283.17.2260","article-title":"Clinicopathologic features of BRCA-linked and sporadic ovarian cancer","volume":"283","author":"Boyd","year":"2000","journal-title":"JAMA"},{"key":"10.1086\/345075_bib13","doi-asserted-by":"crossref","first-page":"2976","DOI":"10.1038\/sj.onc.1204376","article-title":"A novel germline 1.8-kb deletion of hMLH1 mimicking alternative splicing: a founder mutation in the Chinese population","volume":"20","author":"Chan","year":"2001","journal-title":"Oncogene"},{"key":"10.1086\/345075_bib14","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1136\/jmg.37.9.646","article-title":"Recurrent germline mutation in MSH2 arises frequently de novo","volume":"37","author":"Desai","year":"2000","journal-title":"J Med Genet"},{"key":"10.1086\/345075_bib15","series-title":"Statistical methods for rates and proportions","author":"Fleiss","year":"1981"},{"key":"10.1086\/345075_bib16","series-title":"Markov chain Monte Carlo in practice","author":"Gilks","year":"1996"},{"key":"10.1086\/345075_bib17","first-page":"1067","article-title":"Hereditary nonpolyposis colon cancer: analysis of linkage to 2p15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families","volume":"54","author":"Green","year":"1994","journal-title":"Am J Hum Genet"},{"key":"10.1086\/345075_bib18","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1136\/jmg.33.8.636","article-title":"Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation","volume":"33","author":"Hutter","year":"1996","journal-title":"J Med Genet"},{"key":"10.1086\/345075_bib19","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/ng917","article-title":"A high-resolution recombination map of the human genome","volume":"31","author":"Kong","year":"2002","journal-title":"Nat Genet"},{"key":"10.1086\/345075_bib20","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1038\/35037523","article-title":"The crystal structure of DNA mismatch repair protein MutS binding to a G\u2022T mismatch","volume":"407","author":"Lamers","year":"2000","journal-title":"Nature"},{"key":"10.1086\/345075_bib21","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1006\/gyno.2000.6082","article-title":"Risk of endometrial carcinoma associated with BRCA mutation","volume":"80","author":"Levine","year":"2001","journal-title":"Gynecol Oncol"},{"key":"10.1086\/345075_bib22","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1097\/00000478-199910000-00010","article-title":"Immunohistochemistry for hMLH1 and hMSH2: a practical test for DNA mismatch repair-deficient tumors","volume":"23","author":"Marcus","year":"1999","journal-title":"Am J Surg Pathol"},{"key":"10.1086\/345075_bib23","first-page":"7719","article-title":"Phenotypic analysis of hMSH2 mutations in mouse cells carrying human chromosomes","volume":"61","author":"Marra","year":"2001","journal-title":"Cancer Res"},{"key":"10.1086\/345075_bib24","first-page":"1243","article-title":"Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer","volume":"59","author":"Moisio","year":"1996","journal-title":"Am J Hum Genet"},{"key":"10.1086\/345075_bib25","doi-asserted-by":"crossref","first-page":"1203","DOI":"10.1038\/nm1195-1203","article-title":"Founding mutations and Alu-mediated recombination in hereditary colon cancer","volume":"1","author":"Nystrom-Lahti","year":"1995","journal-title":"Nat Med"},{"key":"10.1086\/345075_bib26","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1038\/35037509","article-title":"Crystal structures of mismatch repair protein MutS and its complex with a substrate DNA","volume":"407","author":"Obmolova","year":"2000","journal-title":"Nature"},{"key":"10.1086\/345075_bib27","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1038\/35098506","article-title":"A genetic profile of contemporary Jewish populations","volume":"2","author":"Ostrer","year":"2001","journal-title":"Nat Rev Genet"},{"key":"10.1086\/345075_bib28","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1093\/hmg\/10.7.735","article-title":"Deficient DNA mismatch repair: a common etiologic factor for colon cancer","volume":"10","author":"Peltomaki","year":"2001","journal-title":"Hum Mol Genet"},{"key":"10.1086\/345075_bib29","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1200\/JCO.2000.18.11.2193","article-title":"Population-based molecular detection of hereditary nonpolyposis colorectal cancer","volume":"18","author":"Salovaara","year":"2000","journal-title":"J Clin Oncol"},{"key":"10.1086\/345075_bib30","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/1098-1004(200012)16:6<491::AID-HUMU6>3.0.CO;2-J","article-title":"Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer","volume":"16","author":"Shiri-Sverdlov","year":"2000","journal-title":"Hum Mutat"},{"key":"10.1086\/345075_bib31","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1086\/319501","article-title":"A new statistical method for haplotype reconstruction from population data","volume":"68","author":"Stephens","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1086\/345075_bib32","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":"10.1086\/345075_bib33","doi-asserted-by":"crossref","first-page":"4074","DOI":"10.1200\/JCO.2001.19.20.4074","article-title":"Msh2 mutation carriers are at higher risk of cancer than mlh1 mutation carriers: a study of hereditary nonpolyposis colorectal cancer families","volume":"19","author":"Vasen","year":"2001","journal-title":"J Clin Oncol"},{"key":"10.1086\/345075_bib34","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1016\/S0016-5085(99)70510-X","article-title":"New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC","volume":"116","author":"Vasen","year":"1999","journal-title":"Gastroenterology"},{"key":"10.1086\/345075_bib35","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1136\/jmg.36.10.792","article-title":"A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening","volume":"36","author":"Yuan","year":"1999","journal-title":"J Med Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970760860X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S000292970760860X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,4,2]],"date-time":"2019-04-02T10:20:43Z","timestamp":1554200443000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S000292970760860X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,12]]},"references-count":27,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2002,12]]}},"alternative-id":["S000292970760860X"],"URL":"https:\/\/doi.org\/10.1086\/345075","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2002,12]]}}}