Investigación genética del cáncer de mama hereditario en Latinoamérica y el Caribe: una revisión sistemática
DOI:
https://doi.org/10.5377/rtu.v12i35.17003Palabras clave:
Cáncer de mama, Hereditario, América Latina, Caribe, BRCA1/2Resumen
Objetivo: Identificar los países con estudios sobre cáncer de mama hereditario (CaMaH) en Latinoamérica y El Caribe (LAC) y la frecuencia de genes con variantes patogénicas (VP).
Método: Se utilizó el marco PRISMA 2020 como referencia para realizar una revisión sistemática de la literatura sobre el tema, utilizando un método explícito para recopilar y sintetizar los hallazgos de los estudios individuales, se incluyeron artículos científicos originales sobre CaMaH, publicados entre enero de 2002 y julio de 2021.
Resultados: Se encontraron 112 estudios genéticos sobre CaMa en 21 de 48 países y territorios de LAC (44%), 17 no habían sido incluidos en revisiones previas, ocho fueron primeras publicaciones, principalmente de Centro América y El Caribe. Más de la mitad de los países no han publicado estudios sobre CaMaH y un tercio no tienen ningún estudio sobre el tema. Los genes más frecuentemente reportados con VP fueron: BRCA2 (39.1% en Puerto Rico), BRCA1 (25% en Bahamas), Tp53 (8.6% en Brasil) y PALB2 (4.3% en Barbados).
Discusión: El estudio del CaMaH en LAC sigue siendo desigual, más hay avances importantes en número de países y estudios. Los genes BRCA1/2 son los más estudiados, seguidos PALB2 y TP53. Hay heterogeneidad en el diseño, tipo de población y genes estudiados, limitando establecer conclusiones generales. La frecuencia de genes con VP es diversa, en cada país y región. Es importante ampliar el cribado genético en la población en riesgo y fortalecer programas de atención nacionales.
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