{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,29]],"date-time":"2026-03-29T21:50:09Z","timestamp":1774821009116,"version":"3.50.1"},"reference-count":0,"publisher":"Ordem dos Medicos","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Med Port"],"abstract":"<jats:p>Introduction: Lynch syndrome is the most common form of hereditary colorectal cancer, being also responsible for endometrial and\u00a0other types of cancers. It is associated with germline mutations in DNA mismatch repair genes and microsatellite instability. MLH1 and\u00a0MSH2 mutations have a \u201cclassical\u201d Lynch syndrome phenotype, with MSH2 having a higher association with extracolonic cancer. MSH6\u00a0and PMS2 mutations have an atypical phenotype. Clinical expression is heterogeneous, with correlation between mismatch repair\u00a0mutated gene and phenotypic patterns.Material and Methods: We retrospectively analyzed data from patients fulfilling Amsterdam criteria or having mismatch repair gene\u00a0mutations, between September 2012 and October 2015.Results: We identified 28 patients. Seventeen had colorectal cancer with right colon predominance. Five developed endometrial\u00a0cancer (median age of diagnosis \u2013 53), with no MSH6 mutations. Five developed other cancers. All mutated mismatch repair cases\u00a0studied had microsatellite instability.Discussion: Most cases had MSH2 mutations despite MLH1 being described in the literature as the most frequently mutated.\u00a0Interestingly, colorectal cancer patients showed no tendency for high inflammatory infiltrate. Despite the high incidence of synchronous\u00a0and metachronous tumours, most patients underwent a partial colectomy. Prophylactic hysterectomy and adnexectomy was performed\u00a0in menopausal\/perimenopausal patients.Conclusion: A standardized registration of patient\u2019s data may lead to better management and knowledge about Lynch syndrome.\u00a0Use of Bethesda Guidelines might identify new cases non-identified by Amsterdam criteria. Microsatellite instability analysis must be\u00a0performed in a much larger scale. The genotypic\/phenotypic correlation described in the literature was not verified in our study with\u00a0statistical significance, perhaps due to small data sample and insufficient clinical registration.<\/jats:p>","DOI":"10.20344\/amp.7774","type":"journal-article","created":{"date-parts":[[2016,10,31]],"date-time":"2016-10-31T17:40:42Z","timestamp":1477935642000},"page":"587-596","source":"Crossref","is-referenced-by-count":1,"title":["Phenotypic Heterogeneity by Germline Mismatch Repair Gene Defect in Lynch Syndrome Patients"],"prefix":"10.20344","volume":"29","author":[{"given":"Jorge","family":"Hern\u00e2ni-Eus\u00e9bio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabete","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"8464","published-online":{"date-parts":[[2016,10,31]]},"container-title":["Acta M\u00e9dica Portuguesa"],"original-title":[],"link":[{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/7774\/4781","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/7774\/4781","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,25]],"date-time":"2022-10-25T21:08:29Z","timestamp":1666732109000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/view\/7774"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10,31]]},"references-count":0,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2016,10,31]]}},"URL":"https:\/\/doi.org\/10.20344\/amp.7774","relation":{},"ISSN":["1646-0758","0870-399X"],"issn-type":[{"value":"1646-0758","type":"electronic"},{"value":"0870-399X","type":"print"}],"subject":[],"published":{"date-parts":[[2016,10,31]]}}}