{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T04:21:37Z","timestamp":1784953297422,"version":"3.55.0"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2011,8,2]],"date-time":"2011-08-02T00:00:00Z","timestamp":1312243200000},"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":[[2012,9]]},"abstract":"<jats:p>Shah MA, Salo\u2010Mullen E, Stadler Z, Ruggeri JM, Mirander M, Pristyazhnyuk Y, Zhang L. <jats:italic>De novo<\/jats:italic> CDH1 mutation in a family presenting with early\u2010onset diffuse gastric cancer.<\/jats:p><jats:p>In this report, we describe the first concluded case of a <jats:italic>de novo<\/jats:italic> germline mutation in <jats:italic>CDH1<\/jats:italic> in a hereditary diffuse gastric cancer (HDGC) kindred. The incident case was a woman with a personal history of Hodgkin's lymphoma and diffuse gastric cancer, who was then confirmed to have a <jats:italic>CDH1<\/jats:italic> mutation (c.1792 C&gt;T (R598X)). The patient's mother was found to have the same <jats:italic>CDH1<\/jats:italic> germline mutation; however, neither maternal grandparent was found to carry the mutation, thus leading to a conclusion that the proband's mother's mutation is of <jats:italic>de novo<\/jats:italic> origin. This case highlights the importance of recognition of the HDGC syndrome and of testing for <jats:italic>CDH1<\/jats:italic> germline mutations in young individuals with diffuse gastric cancer without a family history of the disease.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01744.x","type":"journal-article","created":{"date-parts":[[2011,6,23]],"date-time":"2011-06-23T09:57:48Z","timestamp":1308823068000},"page":"283-287","source":"Crossref","is-referenced-by-count":25,"title":["<i>De novo<\/i> CDH1 mutation in a family presenting with early\u2010onset diffuse gastric cancer"],"prefix":"10.1111","volume":"82","author":[{"given":"MA","family":"Shah","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Salo\u2010Mullen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Stadler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JM","family":"Ruggeri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Mirander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Pristyazhnyuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,8,2]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"873","article-title":"Familial 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