Población y Salud en Mesoamérica ISSN electrónico: 1659-0201

OAI: https://revistas.ucr.ac.cr/index.php/psm/oai
Frecuencia de las mutaciones en los genes BRCA en mujeres con agregación familiar de cáncer de glándula mamaria/ovario
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Palabras clave

breast neoplasms
ovarian neoplasms
BRCA1 gene
BRCA2 gene
mutation
heredity
neoplasias de la mama
neoplasias ováricas
gen BRCA1
gen BRCA2
mutación
herencia

Cómo citar

Benavides-Cerquera, J. D., Bohórquez-Lozano, M. E., Prada-Quiroga, C. F., Carvajal-Carmona, L., & Echeverry de Polanco, M. M. (2016). Frecuencia de las mutaciones en los genes BRCA en mujeres con agregación familiar de cáncer de glándula mamaria/ovario. Población Y Salud En Mesoamérica, 14(1). https://doi.org/10.15517/psm.v14i1.25016

Resumen

Objetivo: Reunir evidencias de la variación en la frecuencia de las mutaciones de BRCA1 y BRCA2 y la historia familiar en pacientes con cáncer de glándula mamaria (CGM) y cáncer de ovario (CO) de diferentes orígenes geográficos. Método: En este trabajo se realizó una revisión sistemática, siguiendo los parámetros del protocolo PRISMA, para estimar la prevalencia de mutaciones en los genes BRCA 1/2 en pacientes con CGM y CO, la incidencia de la historia familiar y la prevalencia observada en casos esporádicos en este tipo de cáncer. Resultados: Se observa una heterogeneidad en la frecuencia de las mutaciones de estos genes en los estudios de historia familiar, con una variación entre 0.0 y 0.48 en pacientes y familiares con CGM y CO similares a los previamente reportados. Discusión: Este amplio rango de la frecuencia se debe al origen de la población estudiada, el número de individuos analizados y la metodología de genotipificación utilizada. La revisión revela que el CGM y CO familiar es dos veces más frecuente, en comparación con los casos de esta misma patología con origen esporádico. Conclusiones: Este tipo de estudios moleculares les permite a las personas que presentan historia familiar con CGM y CO realizarse análisis precoces y chequeos para prevenir en un futuro el desarrollo de alguna de estas neoplasias.

https://doi.org/10.15517/psm.v14i1.25016
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Citas

Las referencias marcadas con asterisco indican estudios comprendidos en la revisión sistemática.

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