Abstract
Introducción: las variaciones genéticas se han relacionado con el riesgo y la eficacia del tratamiento. Es sabido que muchos polimorfismos en cáncer de mama influyen en la susceptibilidad, el riesgo de cáncer y el resultado del tratamiento. Los polimorfismos varían entre las poblaciones, y por tanto, es necesario realizar estudios locales.Objetivo: establecer la frecuencia de polimorfismos asociados al riesgo de cáncer de mama y la farmacogenómica del tratamiento en un grupo de individuos colombianos.Métodos: los datos de los perfiles de microarreglos, incluidos los polimorfismos genéticos asociados con el tratamiento del cáncer de mama, se obtuvieron de forma retrospectiva (Pathway Genomics®). Se estudiaron la frecuencia del marcador CYP2D6 rs3892097 y un panel de cáncer de mama (CAS8 rs1045485, CHEK21100delC, ESR1 rs2046210, FGFR2 rs1219648, intergenic_2q35rs13387042, intergenic_8q24 rs13281615, MSRP30 rs10941679, TNRC9 rs3803662, AKAP9 rs6964587, LSP1 rs3817198, MAP3K1rs889312, PALBS1592 delT, ESR1 rs3020314).Resultados: se analizaron los datos de microarreglos de 68 hombres y 92 mujeres. Todos los polimorfismos siguieron el equilibrio Hardy-Weinberg. Las frecuencias fenotípicas de CYP2D6 rs3892097 C/T, CAS8 rs1045485 G/C, y aquellas de los genes incluidos en un panel de cáncer de mama (CAS8 rs1045485, CHEK21100delC, FGFR2rs1219648, intergenic_2q35rs13387042, intergenic_8q24 rs13281615, MSRP30 rs10941679, TNRC9 rs3803662, LSP1 rs3817198, MAP3K1rs889312, PALBS1592 del T, ESR1rs3020314) no difirieron significativamente de los datos publicados previamente. ESR1 rs2046210, con frecuencias alélicas de C = 0,04 y T = 0,02, y AKAP9 rs6964587, con una frecuencia de A = 0,005, se determinaron como raras.
Highlights
Advances in technology have made multigene testing, or “panel testing”, a practical option when looking for genetic variants that may be associated with a risk of breast cancer and treatment outcome
Subjects from Colombian populations might be at risk of developing diseases associated with MTHFR polymorphisms and might present toxicity and adverse effects if treated with MTX, which suggests the need to evaluate therapeutic alternatives based on individual pharmacogenetic studies [1]
By contrasting data reported in HapMap for general population, Colombians of the present study have no significant differences with the sample of Colombian population reported in HapMap
Summary
Advances in technology have made multigene testing, or “panel testing”, a practical option when looking for genetic variants that may be associated with a risk of breast cancer and treatment outcome. Use of pharmacogenomics will optimize treatment and lower health costs In this context, it is necessary to study disease associations and pharmacogenetic polymorphisms in populations to optimize disease treatment. The spectrum of the frequency of the MTHFR gene polymorphism C677T in a group of healthy Colombian individuals was previously determined to evaluate the genetic background in relation to disease susceptibility and pharmacogenetic applications; the results for the C/C and C/T genotypes in a Colombian population were similar to other previously studied groups of healthy subjects. Subjects from Colombian populations might be at risk of developing diseases associated with MTHFR polymorphisms and might present toxicity and adverse effects if treated with MTX, which suggests the need to evaluate therapeutic alternatives based on individual pharmacogenetic studies [1]
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