{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:34:33Z","timestamp":1791858873507,"version":"4.3.4"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,4,5]],"date-time":"2023-04-05T00:00:00Z","timestamp":1680652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Peutz\u2013Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer.\n                    <jats:italic>STK11<\/jats:italic>\n                    is the only gene known to be associated with PJS, although in 10%\u201315% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2\u201383\u2009years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40\u2009years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70\u2009years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.\n                  <\/jats:p>","DOI":"10.1111\/cge.14337","type":"journal-article","created":{"date-parts":[[2023,4,5]],"date-time":"2023-04-05T07:05:05Z","timestamp":1680678305000},"page":"81-89","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Survival, surveillance, and genetics in patients with Peutz\u2013Jeghers syndrome: A nationwide study"],"prefix":"10.1111","volume":"104","author":[{"given":"Anne Marie","family":"Jelsig","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics University Hospital of Copenhagen, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"van Overeem Hansen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Hospital of Copenhagen, Rigshospitalet  Copenhagen Denmark"},{"name":"Department of Clinical Medicine, Faculty of Health and Medical Sciences University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lene Bjerring","family":"Gede","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Hospital of Copenhagen, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niels","family":"Qvist","sequence":"additional","affiliation":[{"name":"Research Unit for Surgery Odense University Hospital  Odense Denmark"},{"name":"University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise\u2010Lotte","family":"Christensen","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University Hospital of Aarhus  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte Kvist","family":"Lautrup","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane H\u00fcbertz","family":"Frederiksen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Hospital of Copenhagen, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8479-165X","authenticated-orcid":false,"given":"Lone","family":"Sunde","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aalborg University Hospital  Aarhus Denmark"},{"name":"Department of Clinical Medicine Aalborg University  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lilian Bomme","family":"Ousager","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Odense University Hospital  Odense Denmark"},{"name":"Department of Clinical Research University of Southern Denmark  Odense Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Ljungmann","sequence":"additional","affiliation":[{"name":"Department of Surgery Aarhus University Hospital  Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgitte","family":"Bertelsen","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine University Hospital of Copenhagen, Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G\u00e1sdal","family":"Karstensen","sequence":"additional","affiliation":[{"name":"Danish Polyposis Registry, Gastrounit Copenhagen University Hospital \u2013 Amager and Hvidovre  Hvidovre Denmark"},{"name":"Department of Clinical Medicine 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