{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T11:37:31Z","timestamp":1784893051674,"version":"3.55.0"},"reference-count":0,"publisher":"AVES YAYINCILIK A.\u015e.","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Turkish Journal of Gastroenterology"],"abstract":"<jats:p>Background\/Aims: Peutz&amp;ndash;Jeghers syndrome (PJS) is a rare hereditary disorder linked to increased cancer risk due to specific genetic variants in the STK11 gene. This study aimed to assess disease manifestations, genetic profiles, and genotype&amp;ndash;phenotype correlations in PJS patients. Materials and Methods: Twenty patients from 14 families with PJS who were followed up at our clinic between 2011 and 2021 were included. Genetic susceptibility to hereditary cancers was assess&amp;ndash;ed using targeted next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) of the STK11 gene. Clinical data were also collected and analyzed in conjunction with the genetic findings. Results: Initial symptoms appeared around 18.9 years, predominantly abdominal pain and intussusception. Mucocutaneous lesions were found in 85%, and hamartomatous polyps in 90%. Dysplastic polyps were found in 4 patients, with 3 cases of malignancy. Nextgeneration sequencing identified 11 pathogenic and 3 likely pathogenic mutations, including 3 novel STK11 variants (LRG_319: c.598- 8_601del, LRG_319: c.708_718del, and LRG_319: c.146_147del). Next-generation sequencing diagnostic rate was 78.5% (11\/14), and the overall diagnostic rate with NGS and MLPA studies was 85.7% (12\/14). Patients without STK11 mutations had later symptom onset and potentially lower cancer risk. Truncated mutations are associated with earlier symptoms and elevated cancer risk. Conclusion: This is the first PJS case series in Turkey using the NGS and MLPA methods. It reports 3 novel mutations and emphasizes the genotype&amp;ndash;phenotype relationship of PJS. With further studies, the genotype&amp;ndash;phenotype relationship of STK11 variants will be better understood. Cite this article as: G&amp;uuml;nay Aslan P, &amp;Ccedil;a\u011flayan AO, Bora E, et al. Clinical and molecular analysis in patients with peutz&amp;ndash;jeghers syndrome. Turk J Gastroenterol. 2024;35(5):374-384.<\/jats:p>","DOI":"10.5152\/tjg.2024.23262","type":"journal-article","created":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T05:39:07Z","timestamp":1727329147000},"page":"374-384","source":"Crossref","is-referenced-by-count":3,"title":["Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome"],"prefix":"10.5152","volume":"35","author":[{"given":"P\u0131nar","family":"G\u00fcnay Aslan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet Okay","family":"\u00c7a\u011flayan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"El\u00e7in","family":"Bora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Altu\u011f","family":"Ko\u00e7","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilal","family":"Yucel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayfer","family":"\u00dclgenalp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye\u015fim","family":"\u00d6zt\u00fcrk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcl","family":"\u015eeker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mesut","family":"Akarsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"3111","published-online":{"date-parts":[[2024,5,15]]},"container-title":["Turkish Journal of Gastroenterology"],"original-title":[],"link":[{"URL":"http:\/\/turkjgastroenterol.org\/index.php\/tjg\/article\/download\/4109\/3771","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T02:38:24Z","timestamp":1771295904000},"score":1,"resource":{"primary":{"URL":"http:\/\/turkjgastroenterol.org\/index.php\/tjg\/article\/view\/4109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,15]]},"references-count":0,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,5,15]]}},"URL":"https:\/\/doi.org\/10.5152\/tjg.2024.23262","relation":{},"ISSN":["2148-5607"],"issn-type":[{"value":"2148-5607","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,15]]}}}