{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T05:13:39Z","timestamp":1785906819837,"version":"3.56.0"},"reference-count":51,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"CONACYT","award":["FOSISS SALUD-2018-02-A3-S-39248"],"award-info":[{"award-number":["FOSISS SALUD-2018-02-A3-S-39248"]}]},{"name":"LXV legislature of the Mexican Chamber of Deputies","award":["FOSISS SALUD-2018-02-A3-S-39248"],"award-info":[{"award-number":["FOSISS SALUD-2018-02-A3-S-39248"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Lynch syndrome (LS) is the main hereditary colorectal cancer syndrome. There have been few reports regarding the clinical and molecular characteristics of LS patients in Latin America; this is particularly true in the Mexican population, where no information is available. The present study aims to describe the clinical and molecular spectrum of variants in a cohort of patients diagnosed with LS in Mexico. We present a retrospective analysis of 412 patients with suspected LS, whose main site of cancer diagnosis was the colon (58.25%), followed by the endometrium (18.93%). Next-generation sequencing analysis, with an extensive multigene panel, showed that 27.1% (112\/414) had a variant in one of the genes of the mismatch repair pathway (MMR); 30.4% (126\/414) had a variant in non-MMR genes such as CHEK2, APC, MUTYH, BRCA1, and BRCA2; and 42.5% (176\/414) had no genetic variants. Most of the variants were found in MLH1. Pathogenic variants (PVs) in MMR genes were identified in 65.7% (96\/146) of the total PVs, and 34.24% (45\/146) were in non-MMR genes. Molecular and clinical characterization of patients with LS in specific populations allowed personalized follow-up, with the option for targeted treatment with immune checkpoint inhibitors and the development of public health policies. Moreover, such characterization allows for family cascade testing and consequent prevention strategies.<\/jats:p>","DOI":"10.3390\/ijms231911549","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T01:43:01Z","timestamp":1664502181000},"page":"11549","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A Previously Unrecognized Molecular Landscape of Lynch Syndrome in the Mexican Population"],"prefix":"10.3390","volume":"23","author":[{"given":"Alejandra","family":"Padua-Bracho","sequence":"first","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"},{"name":"Postgraduate Program Doctorate in Biomedicine and Molecular Biotechnology, National Polytechnic Institute, Mexico City 11340, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3617-8148","authenticated-orcid":false,"given":"Jos\u00e9 A.","family":"Vel\u00e1zquez-Arag\u00f3n","sequence":"additional","affiliation":[{"name":"Experimental Oncology Laboratory, National Pediatric Institute, Mexico City 04530, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ver\u00f3nica","family":"Fragoso-Ontiveros","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3315-1185","authenticated-orcid":false,"given":"Paulina Mar\u00eda","family":"Nu\u00f1ez-Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda de la Luz","family":"Mej\u00eda Aguayo","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuliana","family":"S\u00e1nchez-Contreras","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8428-1150","authenticated-orcid":false,"given":"Miguel Angel","family":"Ramirez-Otero","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela Ang\u00e9lica","family":"De la Fuente-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Vidal-Mill\u00e1n","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3207-6697","authenticated-orcid":false,"given":"Talia","family":"Wegman-Ostrosky","sequence":"additional","affiliation":[{"name":"Basic Research Sub Direction, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7857-3464","authenticated-orcid":false,"given":"Abraham","family":"Pedroza-Torres","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian","family":"Arriaga-Canon","sequence":"additional","affiliation":[{"name":"Basic Research Sub Direction, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3998-9306","authenticated-orcid":false,"given":"Luis A.","family":"Herrera-Montalvo","sequence":"additional","affiliation":[{"name":"General Management, National Institute of Genomic Medicine, Mexico City 14610, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Maria","family":"Alvarez-G\u00f3mez","sequence":"additional","affiliation":[{"name":"Hereditary Cancer Clinic, National Cancer Institute, Mexico City 14080, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,9,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"368","DOI":"10.3393\/ac.2021.00878.0125","article-title":"Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer","volume":"37","author":"Kim","year":"2021","journal-title":"Ann. 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