Ile655Val of the HER2 gene and its possible predictive value in patients with hereditary breast and ovarian cancer syndrome

Abstract

Breast cancer is a public health problem that represents the 1 st 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.