{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T22:12:13Z","timestamp":1784585533735,"version":"3.55.0"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,11,6]],"date-time":"2015-11-06T00:00:00Z","timestamp":1446768000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2015,11,6]],"date-time":"2015-11-06T00:00:00Z","timestamp":1446768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Blood Cancer"],"published-print":{"date-parts":[[2016,3]]},"DOI":"10.1002\/pbc.25818","type":"journal-article","created":{"date-parts":[[2015,11,6]],"date-time":"2015-11-06T16:41:12Z","timestamp":1446828072000},"page":"418-427","source":"Crossref","is-referenced-by-count":34,"title":["Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity"],"prefix":"10.1002","volume":"63","author":[{"given":"Hagit N.","family":"Baris","sequence":"first","affiliation":[{"name":"The Genetics Institute; Rambam Health Care Campus; Haifa Israel"},{"name":"Rappaport Faculty of Medicine; Technion-Israel Institute of Technology; Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inbal","family":"Barnes-Kedar","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute; Rabin Medical Center; Beilinson Hospital; Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Toledano","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel"},{"name":"Department of Pediatric Oncology; Schneider Children's Medical Center of Israel; Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marisa","family":"Halpern","sequence":"additional","affiliation":[{"name":"Department of Pathology; Rabin Medical Center; Hasharon Hospital; Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dov","family":"Hershkovitz","sequence":"additional","affiliation":[{"name":"Rappaport Faculty of Medicine; Technion-Israel Institute of Technology; Haifa Israel"},{"name":"Department of Pathology; Rambam Health Care Campus; Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Lossos","sequence":"additional","affiliation":[{"name":"Sharett Institute of Oncology; Hadassah-Hebrew University Medical Center; Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Israela","family":"Lerer","sequence":"additional","affiliation":[{"name":"Department of Human Genetics; Hadassah-Hebrew University Medical Center; Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Peretz","sequence":"additional","affiliation":[{"name":"Sharett Institute of Oncology; Hadassah-Hebrew University Medical Center; Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Revital","family":"Kariv","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology & Liver Disease; Sourasky Medical Center; Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shlomi","family":"Cohen","sequence":"additional","affiliation":[{"name":"The Pediatric Gastroenterology Unit; Sourasky Medical Center; Tel Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth E.","family":"Half","sequence":"additional","affiliation":[{"name":"Rappaport Faculty of Medicine; Technion-Israel Institute of Technology; Haifa Israel"},{"name":"Department of Gastroenterology; Rambam Health Care Campus; Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurit","family":"Magal","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute; Rabin Medical Center; Beilinson Hospital; Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Drasinover","sequence":"additional","affiliation":[{"name":"The Raphael Recanati Genetic Institute; Rabin Medical Center; Beilinson Hospital; Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Wimmer","sequence":"additional","affiliation":[{"name":"Division of Human Genetics; Medical University Innsbruck; Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael","family":"Goldberg","sequence":"additional","affiliation":[{"name":"Sharett Institute of Oncology; Hadassah-Hebrew University Medical Center; Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dani","family":"Bercovich","sequence":"additional","affiliation":[{"name":"Human Molecular Genetics; Tel Hai College; Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zohar","family":"Levi","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel"},{"name":"Gastroenterology Division; Rabin Medical Center; Beilinson Hospital; Petach Tikva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,11,6]]},"reference":[{"key":"10.1002\/pbc.25818-BIB0001|pbc25818-cit-0001","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1086\/323658","article-title":"The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas","volume":"69","author":"Cunningham","year":"2001","journal-title":"Am J Hum Genet"},{"key":"10.1002\/pbc.25818-BIB0002|pbc25818-cit-0002","doi-asserted-by":"crossref","first-page":"5783","DOI":"10.1200\/JCO.2008.17.5950","article-title":"Feasibility of screening for Lynch syndrome among patients with colorectal cancer","volume":"26","author":"Hampel","year":"2008","journal-title":"J Clin Oncol"},{"key":"10.1002\/pbc.25818-BIB0003|pbc25818-cit-0003","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1097\/GIM.0b013e31818fa2ff","article-title":"Recommendations from the EGAPP Working Group: Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives","volume":"11","author":"EGAPP Working Group","year":"2009","journal-title":"Genet Med"},{"key":"10.1002\/pbc.25818-BIB0004|pbc25818-cit-0004","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1053\/j.gastro.2003.11.008","article-title":"Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation","volume":"126","author":"Gallinger","year":"2004","journal-title":"Gastroenterology"},{"key":"10.1002\/pbc.25818-BIB0005|pbc25818-cit-0005","doi-asserted-by":"crossref","first-page":"2449","DOI":"10.1038\/ajg.2010.215","article-title":"The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations","volume":"105","author":"Durno","year":"2010","journal-title":"Am J Gastroenterol"},{"key":"10.1002\/pbc.25818-BIB0006|pbc25818-cit-0006","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1007\/s00439-008-0542-4","article-title":"Constitutional mismatch repair-deficiency syndrome: Have we so far seen only the tip of an iceberg","volume":"124","author":"Wimmer","year":"2008","journal-title":"Hum Genet"},{"key":"10.1002\/pbc.25818-BIB0007|pbc25818-cit-0007","doi-asserted-by":"crossref","first-page":"699","DOI":"10.3324\/haematol.2009.021626","article-title":"Constitutional mismatch repair-deficiency syndrome","volume":"95","author":"Wimmer","year":"2010","journal-title":"Haematologica"},{"key":"10.1002\/pbc.25818-BIB0008|pbc25818-cit-0008","doi-asserted-by":"crossref","first-page":"1395","DOI":"10.1086\/345075","article-title":"The founder mutation MSH2*1906G>C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population","volume":"71","author":"Foulkes","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1002\/pbc.25818-BIB0009|pbc25818-cit-0009","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1136\/jmg.2005.030999","article-title":"The HNPCC associated MSH2*1906G>C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population","volume":"42","author":"Sun","year":"2005","journal-title":"J Med Genet"},{"key":"10.1002\/pbc.25818-BIB0010|pbc25818-cit-0010","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1007\/s10689-009-9298-9","article-title":"An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC","volume":"9","author":"Goldberg","year":"2010","journal-title":"Fam Cancer"},{"key":"10.1002\/pbc.25818-BIB0011|pbc25818-cit-0011","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1111\/j.1399-0004.2010.01594.x","article-title":"Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome","volume":"79","author":"Raskin","year":"2011","journal-title":"Clin Genet"},{"key":"10.1002\/pbc.25818-BIB0012|pbc25818-cit-0012","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1136\/jmedgenet-2014-102284","article-title":"Diagnostic criteria for constitutional mismatch repair deficiency syndrome: Suggestions of the European consortium \u2018Care for CMMRD\u2019 (C4CMMRD)","volume":"51","author":"Wimmer","year":"2014","journal-title":"J Med Genet"},{"key":"10.1002\/pbc.25818-BIB0013|pbc25818-cit-0013","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s10689-013-9675-2","article-title":"Lynch Syndrome in high risk Ashkenazi Jews in Israel","volume":"13","author":"Goldberg","year":"2014","journal-title":"Fam Cancer"},{"key":"10.1002\/pbc.25818-BIB0014|pbc25818-cit-0014","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1007\/s10689-008-9191-y","article-title":"Mutation spectrum in HNPCC in the Israeli population","volume":"7","author":"Goldberg","year":"2008","journal-title":"Fam Cancer"},{"key":"10.1002\/pbc.25818-BIB0015|pbc25818-cit-0015","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/humu.20657","article-title":"RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference","volume":"29","author":"Etzler","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1002\/pbc.25818-BIB0016|pbc25818-cit-0016","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1007\/s10689-008-9227-3","article-title":"Homozygosity of MSH2 c.1906G>C germline mutation is associated with childhood colon cancer, astrocytoma and signs of neurofibromatosis type I","volume":"8","author":"Toledano","year":"2009","journal-title":"Fam Cancer"},{"key":"10.1002\/pbc.25818-BIB0017|pbc25818-cit-0017","doi-asserted-by":"crossref","first-page":"2023","DOI":"10.4049\/jimmunol.1102984","article-title":"Human MSH6 deficiency is associated with impaired antibody maturation","volume":"188","author":"Gard\u00e8s","year":"2012","journal-title":"J Immunol"},{"key":"10.1002\/pbc.25818-BIB0018|pbc25818-cit-0018","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1016\/j.ejca.2013.12.005","article-title":"Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium","volume":"50","author":"Bakry","year":"2014","journal-title":"Eur J Cancer"},{"key":"10.1002\/pbc.25818-BIB0019|pbc25818-cit-0019","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1038\/ng.3202","article-title":"Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers","volume":"47","author":"Shlien","year":"2015","journal-title":"Nat Genet"},{"key":"10.1002\/pbc.25818-BIB0020|pbc25818-cit-0020","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1080\/03014460110100928","article-title":"Consanguinity in a population sample of Israeli Muslim Arabs, Christian Arabs and Druze","volume":"29","author":"Vardi-Saliternik","year":"2002","journal-title":"Ann Hum Biol"},{"key":"10.1002\/pbc.25818-BIB0021|pbc25818-cit-0021","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1086\/420796","article-title":"Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome","volume":"74","author":"Vos","year":"2004","journal-title":"Am J Hum Genet"},{"key":"10.1002\/pbc.25818-BIB0022|pbc25818-cit-0022","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s00439-002-0858-4","article-title":"Neurofibromatosis type I gene as a mutational target in a mismatch repair-deficient cell type","volume":"112","author":"Wang","year":"2003","journal-title":"Hum Genet"},{"key":"10.1002\/pbc.25818-BIB0023|pbc25818-cit-0023","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1002\/ajmg.a.33139","article-title":"Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service","volume":"152A","author":"Evans","year":"2010","journal-title":"Am J Med Genet A"},{"issue":"6 Pt 1","key":"10.1002\/pbc.25818-BIB0024|pbc25818-cit-0024","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/S0190-9622(99)70075-7","article-title":"The diagnostic value of caf\u00e9-au-lait macules","volume":"40","author":"Landau","year":"1999","journal-title":"J Am Acad Dermatol"},{"key":"10.1002\/pbc.25818-BIB0025|pbc25818-cit-0025","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1002\/pbc.24019","article-title":"Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 Year follow-up of a kindred","volume":"59","author":"Durno","year":"2012","journal-title":"Pediatr Blood Cancer"},{"key":"10.1002\/pbc.25818-BIB0026|pbc25818-cit-0026","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1136\/jmedgenet-2013-102238","article-title":"Wimmer K; EU-Consortium Care for CMMR-D (C4CMMR-D). Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium \"Care for CMMR-D\" (C4CMMR-D)","volume":"51","author":"Vasen","year":"2014","journal-title":"J Med Genet"},{"key":"10.1002\/pbc.25818-BIB0027|pbc25818-cit-0027","doi-asserted-by":"crossref","first-page":"2509","DOI":"10.1056\/NEJMoa1500596","article-title":"PD-1 Blockade in tumors with mismatch-repair deficiency","volume":"372","author":"Le","year":"2015","journal-title":"N Engl J Med"},{"key":"10.1002\/pbc.25818-BIB0028|pbc25818-cit-0028","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/jmedgenet-2014-102934","article-title":"A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype","volume":"52","author":"Li","year":"2015","journal-title":"J Med Genet"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.25818","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.25818","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/pbc.25818\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,7,30]],"date-time":"2020-07-30T08:40:41Z","timestamp":1596098441000},"score":1,"resource":{"primary":{"URL":"http:\/\/doi.wiley.com\/10.1002\/pbc.25818"}},"subtitle":["CMMRD, Founder Mutations, and Consanguinity in Israel"],"short-title":[],"issued":{"date-parts":[[2015,11,6]]},"references-count":28,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,3]]}},"URL":"https:\/\/doi.org\/10.1002\/pbc.25818","archive":["Portico"],"relation":{},"ISSN":["1545-5009"],"issn-type":[{"value":"1545-5009","type":"print"}],"subject":[],"published":{"date-parts":[[2015,11,6]]}}}