A novel mutation in the TSC 2 gene protects against colorectal cancer in the Mexican population

Simple item page
AudienciaPúblico en generales_ES
CoberturaMéxicoes_ES
Fecha de ingreso2026-10-05T16:32:38Z
Fecha de publicación2022-01-01
ResumenIntroduction: Colorectal cancer (CRC) is a complex disease due to the large number of factors that influence its development, including variants in tumor suppressor genes. Objective: To estimate allelic and genotypic frequencies of c.3915G>A and c.5371G>A variants of the TSC2 gene in a Mexican population with CRC, as well as to analyze their association with the development of CRC. Methods: 126 peripheral blood samples from patients diagnosed with sporadic CRC and 134 from healthy individuals, regarded as the control group, were included. Identification of genotypes was carried out using traditional PCR and enzymatic digestion. All individuals signed an informed consent letter. Results: The A allele of the c.3915G>A variant (OR = 0.31, 95\% CI = 0.15-0.69, p = 0.004), as well as A/G haplotype of the c.3915G>A and c.5371G>A variants (OR = 0.28, 95\% CI = 0.12-0.68, p = 0.005) showed a possible protective effect against sporadic CRC. In silico analysis indicated that both variants generate modifications in the splicing process. Conclusion: The presence of TSC2 gene c.3915G>A variant suggests a possible protective effect against sporadic CRC in the Mexican population; however, no association was observed with the c.5371G>A variant.es_ES
URIhttps://riuat.uat.edu.mx/handle/123456789/4480
Idiomaeses_ES
EditorialACAD NACIONAL MEDICINA MEXICOes_ES
RelaciónGaceta Medica de Mexicoes_ES
DerechosAcceso restringido / Suscripción (Metadatos de producción científica)es_ES
Licenciahttp://purl.org/coar/access_right/c_16eces_ES
FuenteGaceta Medica de Mexico
Palabra claveColorectal canceres_ES
Palabra claveTuberous sclerosis complex 2es_ES
Palabra claveTSC2 genees_ES
Palabra claveTumor suppressor geneses_ES
TítuloA novel mutation in the TSC 2 gene protects against colorectal cancer in the Mexican populationes_ES
TipoArtículoes_ES
ArbitradoHa sido Arbitradoes_ES
AutorGonzalez-Villasenor, Christian O.
AutorRamirez-Guerrero, Angelica A.
AutorMoreno-Ortiz, Jose M.
AutorLeal-Ugarte, Evelia
AutorPeralta-Leal, Valeria
AutorMacias-Gomez, Nelly M.
AutorGonzalez-Villasenor, Christian O.es_ES
AutorRamirez-Guerrero, Angelica A.es_ES
AutorMoreno-Ortiz, Jose M.es_ES
AutorLeal-Ugarte, Eveliaes_ES
AutorPeralta-Leal, Valeriaes_ES
AutorMacias-Gomez, Nelly M.es_ES
InstituciónUniversidad Autónoma de Tamaulipas
InstituciónUniversidad Autónoma de Tamaulipases_ES
Número5es_ES
Rango de páginas293-298es_ES
Tipo de artículoIndexado
Tipo de artículoIndexadoes_ES
Volumen158es_ES

Files

Collections

Documentación Cientifica