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Ile655Val del gen HER2 y su posible valor predictivo en pacientes con síndrome de cáncer de mama y ovario hereditario

doi: 10.24875/j.gamo.M18000140

Full Article in PDF (Spanish)

VOLUME 17 - NUMBER 2 / April-June (Original Article)

Martha Orozco-Quiyono, División de Investigación Biomédica, CMN 20 de Noviembre, ISSSTE, Ciudad de México, México
Fidel Espinoza-Contreras, Universidad Autónoma Metropolitana Unidad Xochimilco, Ciudad de México, México
A. Sergio Rodríguez-Cuevas, Instituto de Enfermedades de la Mama (FUCAM), Ciudad de México, México
Aura Argentina Erazo-Valle-Solís, 3Jefe del Servicio de Enseñanza e Investigación del Centro Médico Nacional 20 de noviembre del ISSSTE, Ciudad de México, México

Breast cancer is a public health problem that represents the 1st cause of cancer death in Mexican women aged 20 years and over (14.8%). Metastases occur in 7% at the time of diagnosis and are usually directed to vital organs such as lung, brain, liver
and bone tissue; which leads us to the need to have methods that allow us to diagnose early this phenomenon that is related to a worse prognosis of this disease. We studied the polymorphism at codon 655 of the HER2 gene that results from the change of an isoleucine (ATC) to a valine (GTC), this codon is located in the transmembrane region and may affect the function of this gene when the allele mutated valine, increasing the kinase activation of the HER2 protein, contrary to the decreasing kinase effect with the leucine allele. Our results show that the cases presented a significant difference (p = 0.0006) from the isoleucine/valine and valine/valine genotypes compared to controls, in which the predominant genotype was isoleucine/isoleucine.

Keywords: Hereditary breast and ovarian cancer syndrome. Genetics. Mutation.