Possible Founder Effect of the {CDKN}2A c.146T{\textgreater}C Variant in the Mexican Population: Phenotypic Characterization

Garza Rodríguez, María Lourdes y Vargas Márquez, Eren Adrián Alejandro y Aguilar, Dione y Trujillo Bornios, Samantha y Gallardo Blanco, Hugo Leonid y Vidal Gutiérrez, Oscar y Pérez Ibave, Diana Cristina y Burciaga Flores, Carlos Horacio (2026) Possible Founder Effect of the {CDKN}2A c.146T{\textgreater}C Variant in the Mexican Population: Phenotypic Characterization. Genes, 17 (5). pp. 1-11. ISSN 2073-4425

Vista previa

Texto
31459.pdf - Versión Publicada
Available under License Creative Commons Attribution Non-commercial No Derivatives.
Download (391kB) | Vista previa

URL o página oficial: https://www.mdpi.com/2073-4425/17/5/532

Resumen

Background: Germline {CDKN}2A 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 {CDKN}2A (c.146T{\textgreater}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 {CDKN}2A (c.146T{\textgreater}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 {CDKN}2A (c.146T{\textgreater}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.

Tipo de elemento:

Article

Palabras claves no controlados:

Posible efecto fundador de la variante c.146T<sub>C</sub> del gen CDKN2A en la población mexicana: caracterización fenotípica CDKN2A; Cáncer de mama; Efecto fundador; Variante germinal; Cáncer hereditario

Materias:

R Medicina > RC Medicina Interna, Psiquiatría, Neurología

Divisiones:

Medicina > Maestría en Ciencias con Orientación en Biología Molecular e Ingeniería Genética

Usuario depositante:

Dr.C. Hugo Gallardo Blanco

Creadores:

Creador	Email	ORCID
Garza Rodríguez, María Lourdes	maria.garzarg@uanl.edu.mx	orcid.org/0000-0001-7096-2713
Vargas Márquez, Eren Adrián Alejandro	NO ESPECIFICADO	orcid.org/0009-0001-2572-7076
Aguilar, Dione	NO ESPECIFICADO	NO ESPECIFICADO
Trujillo Bornios, Samantha	NO ESPECIFICADO	NO ESPECIFICADO
Gallardo Blanco, Hugo Leonid	hugo.gallardobl@uanl.edu.mx	orcid.org/0000-0002-7816-4967
Vidal Gutiérrez, Oscar	oscar.vidalgtz@uanl.edu.mx	orcid.org/0000-0003-3723-8525
Pérez Ibave, Diana Cristina	dperezi@uanl.edu.mx	orcid.org/0000-0002-7816-4967
Burciaga Flores, Carlos Horacio	carlos.hburciaga@gmail.com	orcid.org/0000-0002-7723-8354