{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:21:43Z","timestamp":1790677303279,"version":"4.1.0"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,6,6]],"date-time":"2020-06-06T00:00:00Z","timestamp":1591401600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,6,6]],"date-time":"2020-06-06T00:00:00Z","timestamp":1591401600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2021,1]]},"DOI":"10.1007\/s10689-020-00191-4","type":"journal-article","created":{"date-parts":[[2020,6,6]],"date-time":"2020-06-06T02:02:17Z","timestamp":1591408937000},"page":"55-59","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Two cases of somatic STK11 mosaicism in Danish patients with Peutz\u2013Jeghers syndrome"],"prefix":"10.1007","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0916-4517","authenticated-orcid":false,"given":"Anne Marie","family":"Jelsig","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitte","family":"Bertelsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Forss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G\u00e1sdal","family":"Karstensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,6]]},"reference":[{"key":"191_CR1","unstructured":"WHO International Classification of Diseases (ICD-10). vol. 2016 Jun 15"},{"key":"191_CR2","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1007\/s00384-016-2560-3","volume":"31","author":"AM Jelsig","year":"2016","unstructured":"Jelsig AM, Qvist N, Sunde L et al (2016) Disease pattern in Danish patients with Peutz-Jeghers syndrome. Int J Colorectal Dis 31:997\u20131004. https:\/\/doi.org\/10.1007\/s00384-016-2560-3","journal-title":"Int J Colorectal Dis"},{"issue":"2","key":"191_CR3","first-page":"71","volume":"136","author":"J Utsunomiya","year":"1975","unstructured":"Utsunomiya J, Gocho H, Miyanaga T, Hamaguchi E, Kashimure A (1975) Peutz-Jeghers syndrome: its natural course and management. Johns Hopkins Med J 136(2):71\u201382","journal-title":"Johns Hopkins Med J"},{"issue":"10","key":"191_CR4","doi-asserted-by":"publisher","first-page":"3209","DOI":"10.1158\/1078-0432.ccr-06-0083","volume":"12","author":"N Hearle","year":"2006","unstructured":"Hearle N, Schumacher V, Menko FH et al (2006) Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 12(10):3209\u20133215. https:\/\/doi.org\/10.1158\/1078-0432.ccr-06-0083","journal-title":"Clin Cancer Res"},{"issue":"7","key":"191_CR5","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1136\/gut.2009.198499","volume":"59","author":"AD Beggs","year":"2010","unstructured":"Beggs AD, Latchford AR, Vasen HF et al (2010) Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut 59(7):975\u2013986. https:\/\/doi.org\/10.1136\/gut.2009.198499","journal-title":"Gut"},{"issue":"1","key":"191_CR6","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1007\/s10689-015-9839-3","volume":"15","author":"V McKay","year":"2016","unstructured":"McKay V, Cairns D, Gokhale D, Mountford R, Greenhalgh L (2016) First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome. Fam Cancer 15(1):57\u201361. https:\/\/doi.org\/10.1007\/s10689-015-9839-3","journal-title":"Fam Cancer"},{"issue":"1","key":"191_CR7","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1007\/s10689-018-0093-3","volume":"18","author":"GI Butel-Simoes","year":"2019","unstructured":"Butel-Simoes GI, Spigelman AD, Scott RJ, Vilain RE (2019) Low-level parental mosaicism in an apparent de novo case of Peutz-Jeghers syndrome. Fam Cancer 18(1):109\u2013112. https:\/\/doi.org\/10.1007\/s10689-018-0093-3","journal-title":"Fam Cancer"},{"issue":"2","key":"191_CR8","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1002\/humu.9112","volume":"21","author":"J Boudeau","year":"2003","unstructured":"Boudeau J, Kieloch A, Alessi DR, Stella A, Guanti G, Resta N (2003) Functional analysis of LKB1\/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients. Hum Mutat 21(2):172. https:\/\/doi.org\/10.1002\/humu.9112","journal-title":"Hum Mutat"},{"issue":"3","key":"191_CR9","doi-asserted-by":"publisher","first-page":"404","DOI":"10.2174\/0929867324666170718101946","volume":"25","author":"A Fernandez-Marmiesse","year":"2018","unstructured":"Fernandez-Marmiesse A, Gouveia S, Couce ML (2018) NGS technologies as a turning point in rare disease research, diagnosis and treatment. Curr Med Chem 25(3):404\u2013432. https:\/\/doi.org\/10.2174\/0929867324666170718101946","journal-title":"Curr Med Chem"},{"issue":"1","key":"191_CR10","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1186\/s12920-019-0553-0","volume":"12","author":"B Kim","year":"2019","unstructured":"Kim B, Won D, Jang M et al (2019) Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis. BMC Med Genomics 12(1):103. https:\/\/doi.org\/10.1186\/s12920-019-0553-0","journal-title":"BMC Med Genomics"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-020-00191-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10689-020-00191-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-020-00191-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,5]],"date-time":"2021-06-05T23:31:35Z","timestamp":1622935895000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10689-020-00191-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,6]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["191"],"URL":"https:\/\/doi.org\/10.1007\/s10689-020-00191-4","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,6]]},"assertion":[{"value":"24 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 June 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"No conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflicts of interest"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"Patients consented to participate.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"Patients consented to publication.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}