{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T14:43:50Z","timestamp":1791470630623,"version":"4.3.4"},"reference-count":28,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Oncology Service of CUCC"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Germline CDKN2A variants are associated with Familial Atypical Mole-Malignant Melanoma (FAMMM) syndrome. This syndrome involves an increased risk of melanoma, pancreatic cancer, and, in specific populations, duodenal cancer, breast cancer, and astrocytoma. The CDKN2A (c.146T&gt;C) variant has been found in hereditary cancer patients within the Mexican population. Furthermore, the phenotype linked to this variant in Mexico differs from that observed in other groups. This study aims to evaluate the founder effect of the CDKN2A (c.146T&gt;C) variant through epidemiological analysis and to describe the phenotype within our population. Patients and Methods: We examined 72 Mexican patients (14 probands from distinct families, 48 relatives, and 10 nonrelated probands) carrying the CDKN2A (c.146T&gt;C) form three hereditary cancer centers between September 2023 and September 2025. Results: Of the 72 individuals analyzed, 52 (72.22%) tested positive. A cancer diagnosis was established in 27 (37.50%) of the individuals analyzed. Breast cancer was the most common neoplasia, accounting for 19 cases (70.37%), followed by melanoma with 4 cases (14.81%) and ovarian cancer with 2 cases (7.40%). Three patients (11.11%) had two distinct primary neoplasms. Conclusions: Based on our findings and the fact that this variant has been reported nearly exclusively in the Mexican population, we conclude that it has a founder effect in this population. Additionally, the phenotype associated with this variant can vary among populations, with breast cancer being the most common carcinoma rather than melanoma among Mexican carriers, highlighting the importance of updating screening guidelines.<\/jats:p>","DOI":"10.3390\/genes17050532","type":"journal-article","created":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T08:03:47Z","timestamp":1777536227000},"page":"532","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Possible Founder Effect of the CDKN2A c.146T&gt;C Variant in the Mexican Population: Phenotypic Characterization"],"prefix":"10.3390","volume":"17","author":[{"given":"Mar\u00eda Lourdes","family":"Garza-Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Servicio de Oncolog\u00eda, Centro Universitario Contra el C\u00e1ncer (CUCC), Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 66451, Nuevo Leon, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-2572-7076","authenticated-orcid":false,"given":"Eren Adri\u00e1n Alejandro","family":"Vargas-M\u00e1rquez","sequence":"additional","affiliation":[{"name":"Servicio de Oncolog\u00eda, Centro Universitario Contra el C\u00e1ncer (CUCC), Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 66451, Nuevo Leon, Mexico"},{"name":"Laboratorio de Medicina de Conservaci\u00f3n, Centro de Biotecnolog\u00eda Gen\u00f3mica, Instituto Polit\u00e9cnico Nacional (IPN), Reynosa 88710, Tamaulipas, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dione","family":"Aguilar","sequence":"additional","affiliation":[{"name":"Breast Cancer Center, Hospital Zambrano Hellion TecSalud, San Pedro Garza Garcia 66260, Nuevo Leon, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha","family":"Trujillo-Bornios","sequence":"additional","affiliation":[{"name":"Servicio de Oncolog\u00eda, Centro Universitario Contra el C\u00e1ncer (CUCC), Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 66451, Nuevo Leon, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7816-4967","authenticated-orcid":false,"given":"Hugo Leonid","family":"Gallardo-Blanco","sequence":"additional","affiliation":[{"name":"Servicio de Oncolog\u00eda, Centro Universitario Contra el C\u00e1ncer (CUCC), Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 66451, Nuevo Leon, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oscar","family":"Vidal-Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Servicio de Oncolog\u00eda, Centro Universitario Contra el C\u00e1ncer (CUCC), Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 66451, Nuevo Leon, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana Cristina","family":"P\u00e9rez-Ibave","sequence":"additional","affiliation":[{"name":"Servicio de Oncolog\u00eda, Centro Universitario Contra el C\u00e1ncer (CUCC), Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 66451, Nuevo Leon, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7723-8354","authenticated-orcid":false,"given":"Carlos Horacio","family":"Burciaga-Flores","sequence":"additional","affiliation":[{"name":"Servicio de Oncolog\u00eda, Centro Universitario Contra el C\u00e1ncer (CUCC), Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 66451, Nuevo Leon, Mexico"},{"name":"Instituto Mexicano del Seguro Social (IMSS), Hospital de Ginecolog\u00eda y Obstetricia No. 23, Monterrey 64000, Nuevo Leon, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,4,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/s13053-021-00178-x","article-title":"CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition","volume":"19","author":"Chan","year":"2021","journal-title":"Hered. 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