{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T03:58:04Z","timestamp":1783569484440,"version":"3.55.0"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,1,20]],"date-time":"2013-01-20T00:00:00Z","timestamp":1358640000000},"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":[[2013,12]]},"abstract":"We present the first known case of somatic PTEN<\/jats:styled-content><\/jats:italic> mosaicism causing features of Cowden syndrome (CS) and inheritance in the subsequent generation. A 20\u2010year\u2010old woman presented for genetics evaluation with multiple ganglioneuromas of the colon. On examination, she was found to have a thyroid goiter, macrocephaly, and tongue papules, all suggestive of CS<\/jats:styled-content>. However, her reported family history was not suspicious for CS<\/jats:styled-content>. A deleterious PTEN<\/jats:styled-content><\/jats:italic> mutation was identified in blood lymphocytes, 966A<\/jats:styled-content>>G, 967delA<\/jats:styled-content>. Genetic testing was recommended for her parents. Her 48\u2010year\u2010old father was referred for evaluation and was found to have macrocephaly and a history of Hashimoto's thyroiditis, but no other features of CS<\/jats:styled-content>. Site\u2010specific genetic testing carried out on blood lymphocytes showed mosaicism for the same PTEN<\/jats:styled-content><\/jats:italic> mutation identified in his daughter. Identifying PTEN<\/jats:styled-content><\/jats:italic> mosaicism in the proband's father had significant implications for the risk assessment\/genetic testing plan for the rest of his family. His result also provides impetus for somatic mosaicism in a parent to be considered when a de novo PTEN<\/jats:styled-content><\/jats:italic> mutation is suspected.<\/jats:p>","DOI":"10.1111\/cge.12078","type":"journal-article","created":{"date-parts":[[2012,12,14]],"date-time":"2012-12-14T18:25:30Z","timestamp":1355509530000},"page":"593-595","source":"Crossref","is-referenced-by-count":18,"title":["PTEN<\/scp><\/i> mosaicism with features of Cowden syndrome"],"prefix":"10.1111","volume":"84","author":[{"given":"A","family":"Gammon","sequence":"first","affiliation":[{"name":"High Risk Cancer Clinics, Huntsman Cancer Institute Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Jasperson","sequence":"additional","affiliation":[{"name":"High Risk Cancer Clinics, Huntsman Cancer Institute Salt Lake City UT USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Pilarski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"TW","family":"Prior","sequence":"additional","affiliation":[{"name":"Molecular Pathology Laboratory Ohio State University Columbus OH USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Kuwada","sequence":"additional","affiliation":[{"name":"Department of Medicine and University of Hawaii Cancer Center University of Hawaii Honolulu HI USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,1,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20549"},{"key":"e_1_2_6_3_1","first-page":"484","article-title":"Somatic mosaicism in a patient with neurofibromatosis type 1","volume":"58","author":"Colman SD","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.459"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.51"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-008-9187-7"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2011.06.022"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990212)82:4<290::AID-AJMG3>3.0.CO;2-0"},{"key":"e_1_2_6_9_1","first-page":"COWD\u2010A","volume-title":"Genetic\/familial high\u2010risk assessment: breast and ovarian. NCCN clinical practice guidelines in oncology","author":"Daly MB","year":"2012"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12078","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T04:35:21Z","timestamp":1696307721000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,20]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1111\/cge.12078"],"URL":"https:\/\/doi.org\/10.1111\/cge.12078","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,20]]}}}