{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T07:06:44Z","timestamp":1775804804194,"version":"3.50.1"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T00:00:00Z","timestamp":1758931200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T00:00:00Z","timestamp":1758931200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Lynch syndrome (LS) is an autosomal dominant hereditary disorder that increases the risk of various cancers, especially colorectal (CRC) and endometrial cancer (EC). It results from pathogenic variants in mismatch repair (MMR) genes\u2014primarily\n                    <jats:italic>MLH1<\/jats:italic>\n                    ,\n                    <jats:italic>MSH2<\/jats:italic>\n                    ,\n                    <jats:italic>MSH6<\/jats:italic>\n                    , and\n                    <jats:italic>PMS2<\/jats:italic>\n                    . Population\u2010specific variant frequencies emphasize the need for localized genetic studies. Methods This study investigated LS prevalence in Cear\u00e1, Northeast Brazil, analyzing 150 patients: 130 with CRC, 13 with endometrial cancer, and 7 with other tumors but a family history of LS\u2010associated cancers. Researchers used next\u2010generation sequencing (NGS) to examine 131 genes linked to hereditary cancer syndromes. Variants were classified as Lynch\u2010syndrome associated (MMR genes) or non\u2010Lynch\u2010associated (non\u2010MMR genes). Detection rates varied from 1.18 to 5.07 per 100,000 people; pathogenic variant prevalence ranged from 0 to 1.96 per 100,000 across microregions. Overall, the prevalence of MMR variants was 0.56 per 100,000, and 0.34 for non\u2010MMR variants.\n                    <jats:italic>MSH2<\/jats:italic>\n                    showed the highest number of pathogenic or likely pathogenic variants, followed by\n                    <jats:italic>MSH6<\/jats:italic>\n                    ,\n                    <jats:italic>PMS2<\/jats:italic>\n                    , and\n                    <jats:italic>MLH1<\/jats:italic>\n                    . The study found a particular geographic distribution of LS\u2010related variants. One novel\n                    <jats:italic>MSH6<\/jats:italic>\n                    variant and two unreported non\u2013Lynch variants (\n                    <jats:italic>APC<\/jats:italic>\n                    and\n                    <jats:italic>SMAD4<\/jats:italic>\n                    ) were identified. Conclusions These findings highlight three novel variants in\n                    <jats:italic>MSH6<\/jats:italic>\n                    ,\n                    <jats:italic>APC<\/jats:italic>\n                    , and\n                    <jats:italic>SMAD4<\/jats:italic>\n                    , and indicate that Cear\u00e1 has a higher diversity and a unique spectrum of variants. This reinforces the importance of regional genetic screening and suggests the need to expand testing access, especially in high\u2010risk areas, to improve the early detection and prevention of hereditary cancers in Northeast Brazil.\n                  <\/jats:p>","DOI":"10.1111\/cge.70082","type":"journal-article","created":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T15:15:30Z","timestamp":1758986130000},"page":"630-638","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Mapping the Prevalence of Lynch Syndrome in the Cear\u00e1\u2014Northeast of Brazil"],"prefix":"10.1111","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7871-2513","authenticated-orcid":false,"given":"Maria Claudia","family":"dos Santos Luciano","sequence":"first","affiliation":[{"name":"Instituto Do C\u00e2ncer Do Cear\u00e1\/Faculdade Rodolfo Te\u00f3filo  Fortaleza 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Barbosa","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Instituto Do C\u00e2ncer Do Cear\u00e1\/Faculdade Rodolfo Te\u00f3filo  Fortaleza Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavio","family":"da Silveira Bitencourt","sequence":"additional","affiliation":[{"name":"Instituto Do C\u00e2ncer Do Cear\u00e1\/Faculdade Rodolfo Te\u00f3filo  Fortaleza Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle Joyce","family":"de Lima Silva Fernandes","sequence":"additional","affiliation":[{"name":"Instituto Do C\u00e2ncer Do Cear\u00e1\/Faculdade Rodolfo Te\u00f3filo  Fortaleza Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Fernando Bastos","family":"Moura","sequence":"additional","affiliation":[{"name":"Instituto Do C\u00e2ncer Do Cear\u00e1\/Faculdade Rodolfo Te\u00f3filo  Fortaleza Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria J\u00falia 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