{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T08:27:38Z","timestamp":1786696058938,"version":"build-2736575974"},"reference-count":5,"publisher":"Danish Medical Association","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ugeskr L\u00e6ger"],"abstract":"<jats:p>Cowden syndrome (CS) is a hereditary cancer predisposition syndrome characterised by macrocephaly, mucocutaneous lesions and increased cancer risk in the breast, thyroid, endometrium, kidneys, and colon. We report in this case report, we present a patient clinically diagnosed with CS in whom genetic analyses yielded normal results. In DNA isolated from a buccal swab rather than a standard blood sample, we identified a known pathogenic PTEN missense variant in mosaic form using whole-genome sequencing. Genetic mosaicism should be considered in patients with suspected monogenic cancer predisposition and negative genetic testing.<\/jats:p>","DOI":"10.61409\/v01260034","type":"journal-article","created":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T06:09:25Z","timestamp":1782972565000},"page":"1-3","source":"Crossref","is-referenced-by-count":0,"title":["Mosaicism as a cause of Cowden syndrome"],"prefix":"10.61409","author":[{"given":"Jeff","family":"Granh\u00f8j","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja Venborg","family":"Pedersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabeth H\u00f8gh","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"40208","published-online":{"date-parts":[[2026,6,15]]},"reference":[{"key":"ref0","unstructured":"Yehia L, Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [Updated 2025 Aug 7]. I: Adam MP, Bick S, Mirzaa GM, et al, editors. GeneReviews [Internet]. Seattle; 1993-2026. Accessed December 25, 2025. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1488\/"},{"key":"ref1","doi-asserted-by":"publisher","unstructured":"Smerdel MP, Skytte AB, Jelsig AM, et al. Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome. Eur J Med Genet. 2020;63(5):103873. https:\/\/doi.org\/10.1016\/j.ejmg.2020.103873","DOI":"10.1016\/j.ejmg.2020.103873"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"White SL, Jamil T, Bell C, et al. Population Prevalence of the Major Thyroid Cancer-Associated Syndromes. J Clin Endocrinol Metab. 2025;110(12):e4049-e4054. https:\/\/doi.org\/10.1210\/clinem\/dgaf236","DOI":"10.1210\/clinem\/dgaf236"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"Chen JL, Miller DT, Schmidt LS, et al. Mosaicism in Tumor Supressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk. Annu Rev Genomics Hum Genet. 2022;23:331-361. https:\/\/doi.org\/10.1146\/annurev-genom-120121-105450","DOI":"10.1146\/annurev-genom-120121-105450"},{"key":"ref4","doi-asserted-by":"publisher","unstructured":"Cavaill\u00e9 M, Crampon D, Achim V, et al. Diagnosis of PTEN mosaicism: the relevance of additional tumor DNA sequencing. A case report and review of the literature. BMC Med Genomics. 2023;16(1):166. https:\/\/doi.org\/10.1186\/s12920-023-01600-0","DOI":"10.1186\/s12920-023-01600-0"}],"container-title":["Ugeskrift for L\u00e6ger"],"original-title":[],"deposited":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T07:36:17Z","timestamp":1786692977000},"score":1,"resource":{"primary":{"URL":"https:\/\/ugeskriftet.dk\/videnskab\/V01260034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,15]]},"references-count":5,"URL":"https:\/\/doi.org\/10.61409\/v01260034","relation":{},"ISSN":["0041-5782","1603-6824"],"issn-type":[{"value":"0041-5782","type":"print"},{"value":"1603-6824","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,15]]}}}