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Article

Possible Founder Effect of the CDKN2A c.146T>C Variant in the Mexican Population: Phenotypic Characterization.

Genes - 30 Apr 2026

Garza-Rodríguez María Lourdes, Vargas-Márquez Eren Adrián Alejandro, Aguilar Dione, Trujillo-Bornios Samantha, Gallardo-Blanco Hugo Leonid, Vidal-Gutiérrez Oscar, Pérez-Ibave Diana Cristina, Burciaga-Flores Carlos Horacio

Abstract excerpt

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>C) variant has been found in hereditary cancer patients within the Mexican population. Furthermore, the phenotype linked to this...

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Identifiers

PMID: 42194989
DOI: 10.3390/genes17050532
PMCID: PMC13206291

Genes

CDKN2A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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