{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T20:44:37Z","timestamp":1786999477570,"version":"build-2736575974"},"reference-count":13,"publisher":"Wiley","license":[{"start":{"date-parts":[[2015,5,20]],"date-time":"2015-05-20T00:00:00Z","timestamp":1432080000000},"content-version":"unspecified","delay-in-days":139,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genet. Res."],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    <jats:bold>Background<\/jats:bold>\n                    : A 40\u00a0kb ancestral germline duplication upstream of the\n                    <jats:italic>GREM1<\/jats:italic>\n                    gene was reported in Ashkenazi families with hereditary mixed polyposis syndrome (HMPS).\n                    <jats:bold>Objective<\/jats:bold>\n                    : Assess the contribution of the\n                    <jats:italic>GREM1<\/jats:italic>\n                    mutation to familial colorectal cancer (CRC) in Ashkenazim.\n                    <jats:bold>Methods<\/jats:bold>\n                    : Jewish Ashkenazi individuals (n\u00a0=\u00a0472 155 males, 317 females) were genotyped for the\n                    <jats:italic>GREM1<\/jats:italic>\n                    duplication, 194 with CRC, 131 had other cancer types (endometrial, pancreatic and ovarian) that show a syndromic association with CRC, and 147 were cancer-free with a suggestive family history of CRC.\n                    <jats:bold>Results<\/jats:bold>\n                    : One mutation carrier was found who fulfills the Amsterdam criteria for Lynch Syndrome (LS). The prevalence of this mutation amongst LS Ashkenazim is 0\u00b77%.\n                    <jats:bold>Conclusion<\/jats:bold>\n                    : If validated in additional studies it seems rational to recommend to look for the\n                    <jats:italic>GREM1<\/jats:italic>\n                    founder mutation in Ashkenazi individuals with multiple colorectal polyps and\/or fulfill the criteria for LS.\n                  <\/jats:p>","DOI":"10.1017\/s0016672315000105","type":"journal-article","created":{"date-parts":[[2015,5,20]],"date-time":"2015-05-20T10:44:30Z","timestamp":1432118670000},"source":"Crossref","is-referenced-by-count":20,"title":["<i>GREM1<\/i>\n                    germline mutation screening in Ashkenazi Jewish patients with familial colorectal cancer"],"prefix":"10.1155","volume":"97","author":[{"given":"YAEL","family":"LAITMAN","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EMMA","family":"JAEGER","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LIOR","family":"KATZ","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"IAN","family":"TOMLINSON","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"EITAN","family":"FRIEDMAN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,5,20]]},"reference":[{"key":"S0016672315000105_ref11","doi-asserted-by":"publisher","DOI":"10.1007\/s00384-011-1172-1"},{"key":"S0016672315000105_ref6","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-11-39"},{"key":"S0016672315000105_ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s11894-012-0280-6"},{"key":"S0016672315000105_ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-185"},{"key":"S0016672315000105_ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-009-9298-9"},{"key":"S0016672315000105_ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2263"},{"key":"S0016672315000105_ref13","doi-asserted-by":"publisher","DOI":"10.1038\/1722"},{"key":"S0016672315000105_ref9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1445-2197.2012.06140.x"},{"key":"S0016672315000105_ref4","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2014.04.001"},{"key":"S0016672315000105_ref8","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2010.01.054"},{"key":"S0016672315000105_ref2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5835"},{"key":"S0016672315000105_ref3","doi-asserted-by":"publisher","DOI":"10.1086\/345075"},{"key":"S0016672315000105_ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygyno.2010.08.027"}],"container-title":["Genetics Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0016672315000105","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,31]],"date-time":"2020-12-31T17:46:05Z","timestamp":1609436765000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0016672315000105\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":13,"alternative-id":["S0016672315000105"],"URL":"https:\/\/doi.org\/10.1017\/s0016672315000105","relation":{},"ISSN":["0016-6723","1469-5073"],"issn-type":[{"value":"0016-6723","type":"print"},{"value":"1469-5073","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]},"article-number":"e11"}}