{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T06:51:41Z","timestamp":1791615101694,"version":"4.3.4"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,12,27]],"date-time":"2012-12-27T00:00:00Z","timestamp":1356566400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:p>The <jats:italic><jats:styled-content style=\"fixed-case\">MSH2<\/jats:styled-content><\/jats:italic> c.388_389del mutation has occasionally been described in Lynch families worldwide. At the Portuguese Oncology Institute in Porto, Portugal, we have identified 16 seemingly unrelated families with this germline mutation. To evaluate if this alteration is a founder or a recurrent mutation we performed haplotype analysis in the 16 Portuguese index cases and 55 relatives, as well as in four index cases and 13 relatives reported from Germany, Scotland, England, and Argentina. In the Portuguese families we observed a shared haplotype of approximately 10\u2009Mb and all were originated from the north of Portugal. These results suggest that this alteration is a founder mutation in Portugal with a relatively recent origin. In the reported families outside Portugal with this mutation different haplotype backgrounds were observed, supporting the hypothesis that it occurred <jats:italic>de novo<\/jats:italic> on multiple occasions. We also conclude that the high proportion of families with the <jats:italic><jats:styled-content style=\"fixed-case\">MSH2<\/jats:styled-content><\/jats:italic> c.388_389del mutation indicates that screening for this alteration as a first step may be cost\u2010effective in the genetic testing of Lynch syndrome suspects of Portuguese ancestry, especially those originating from the north of Portugal.<\/jats:p>","DOI":"10.1111\/cge.12062","type":"journal-article","created":{"date-parts":[[2012,11,21]],"date-time":"2012-11-21T18:51:14Z","timestamp":1353523874000},"page":"244-250","source":"Crossref","is-referenced-by-count":15,"title":["The <i><scp>MSH2<\/scp><\/i> c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families"],"prefix":"10.1111","volume":"84","author":[{"given":"M","family":"Pinheiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Pinto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Peixoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Veiga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Mesquita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Henrique","sequence":"additional","affiliation":[{"name":"Department of Pathology Portuguese Oncology Institute  Porto Portugal"},{"name":"Institute of Biomedical Sciences Abel Salazar (ICBAS) University of Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Lopes","sequence":"additional","affiliation":[{"name":"Department of Pathology Portuguese Oncology Institute  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Fragoso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LM","family":"Dias","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Portuguese Oncology Institute  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Baptista","sequence":"additional","affiliation":[{"name":"Department of Surgery S. Jo\u00e3o Hospital  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Marinho","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Centro Hospitalar T\u00e2mega e Sousa  Penafiel Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Mangold","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Bonn  Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Vaccaro","sequence":"additional","affiliation":[{"name":"Department of Colorectal Surgery Hospital Italiano de Buenos Aires  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DG","family":"Evans","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St. Mary's Hospital The University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Farrington","sequence":"additional","affiliation":[{"name":"Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine University of Edinburgh and Medical Research Council (MRC) Human Genetics Unit  Edinburgh UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MG","family":"Dunlop","sequence":"additional","affiliation":[{"name":"Colon Cancer Genetics Group, Institute of Genetics and Molecular Medicine University of Edinburgh and Medical Research Council (MRC) Human Genetics Unit  Edinburgh UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MR","family":"Teixeira","sequence":"additional","affiliation":[{"name":"Institute of Biomedical Sciences Abel Salazar (ICBAS) University of Porto  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,12,27]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/373963"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.030999"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31821dd525"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1858"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.20863"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa053493"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00698.x"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10350-007-9037-y"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2407-10-587"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2011.743"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2011.209"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<116::AID-HUMU24>3.0.CO;2-Q"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200393"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.50.3.405"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9192"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.20320"},{"issue":"6","key":"e_1_2_5_18_1","first-page":"535","article-title":"Need of new clinical criteria for the identification of genetic Lynch syndrome","volume":"20","author":"Sousa R","year":"2007","journal-title":"Acta Med Port"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/156.1.297"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.molbev.a003852"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.2.102"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12062","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12062","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T14:50:08Z","timestamp":1696344608000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12062"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,12,27]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2013,9]]}},"alternative-id":["10.1111\/cge.12062"],"URL":"https:\/\/doi.org\/10.1111\/cge.12062","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,12,27]]}}}