Determinación de factores y marcadores predictivos para cáncer de mama. Estudio Piloto

Abstract

Actualmente se ha propuesto el uso de biomarcadores para el cáncer de mama (CaMa), como el ácido sialico (AS), el cuál ha demostrado ser un rasgo característico en la saliva de estas pacientes. Dentro de su etiología multifactorial, el uso de anticonceptivos hormonales (AH) ha aumentado a nivel mundial, se conoce que una exposición prolongada a estrógenos tanto exógenos como endógenos, puede favorecer su desarrollo, además se han encontrado polimorfismos de un solo nucleótido (SNP) relacionados con su biosíntesis y metabolismo, uno de ellos en el gen ESR1 que codifica para receptores de estrógeno, denominado rs3020314. En este trabajo se evaluaron las concentraciones de AS (analizadas por Raman SERS) y el SNP rs3020314 (mediante PCR tiempo real) a manera de biomarcadores de riesgo en 13 pacientes con CaMa y 30 mujeres sanas. La concentración media de AS para las pacientes fue de 18.15 mg/dL y de 5.51 mg/dL para el grupo control. Para la evaluación del SNP, se obtuvo la frecuencia de genotipos, la variante más frecuente para ambos grupos de estudio fue la heterocigota (CT), seguida de la heterocigota mutada (TT) para pacientes y homocigota silvestre (CC) para el grupo control. Se realizó un análisis multivariado a través de regresión logística para identificar factores de riesgo para CaMa modificables y no modificables asociados con la presencia del SNP del gen ESR1. De acuerdo, con estos resultados, no se encontró ninguna asociación entre estos factores de riesgo y la presencia del SNP. ABSTRACT Currently, the use of biomarkers for breast cancer (BC) has been proposed, such as sialic acid (SA), which has been shown to be a characteristic feature in the saliva of these patients. Within its multifactorial etiology, the use of hormonal contraceptives (HA) has increased worldwide, it is known that prolonged exposure to both exogenous and endogenous estrogens can favor its development, and single nucleotide polymorphisms (SNP) have also been found related to its biosynthesis and metabolism, one of them in the ESR1 gene that codes for estrogen receptors, called rs3020314. In this work, AS concentrations (analyzed by Raman SERS) and the SNP rs3020314 (using real-time PCR) were evaluated as risk biomarkers in 13 patients with BC and 30 healthy women. The mean SA concentration for patients was 18.15 mg/dL and 5.51 mg/dL for the control group. For the evaluation of the SNP, the frequency of genotypes was obtained, the most frequent variant for both study groups was heterozygous (CT), followed by mutated heterozygous (TT) for patients and wild-type homozygous (CC) for the control group. A multivariate analysis was performed through logistic regression to identify modifiable and non-modifiable risk factors for CaMa associated with the presence of the ESR1 gene SNP. In agreement, with these results, no association was found between these risk factors and the presence of the SNP.

Currently, the use of biomarkers for breast cancer (BC) has been proposed, such as sialic acid (SA), which has been shown to be a characteristic feature in the saliva of these patients. Within its multifactorial etiology, the use of hormonal contraceptives (HA) has increased worldwide, it is known that prolonged exposure to both exogenous and endogenous estrogens can favor its development, and single nucleotide polymorphisms (SNP) have also been found related to its biosynthesis and metabolism, one of them in the ESR1 gene that codes for estrogen receptors, called rs3020314. In this work, AS concentrations (analyzed by Raman SERS) and the SNP rs3020314 (using real-time PCR) were evaluated as risk biomarkers in 13 patients with BC and 30 healthy women. The mean SA concentration for patients was 18.15 mg/dL and 5.51 mg/dL for the control group. For the evaluation of the SNP, the frequency of genotypes was obtained, the most frequent variant for both study groups was heterozygous (CT), followed by mutated heterozygous (TT) for patients and wild-type homozygous (CC) for the control group. A multivariate analysis was performed through logistic regression to identify modifiable and non-modifiable risk factors for CaMa associated with the presence of the ESR1 gene SNP. In agreement, with these results, no association was found between these risk factors and the presence of the SNP.