Mutaciones genéticas asociadas a cáncer de mama hereditario en mujeres nicaragüenses
DOI:
https://doi.org/10.5377/rtu.v10i29.12735Palabras clave:
Cáncer de mama, Hereditario, Genes de susceptibilidad, BRCA1/2, variantes patogénicas, LatinoaméricaResumen
Introducción: La etiología del cáncer de mama es multifactorial, sin embargo, se ha evidenciado que la mayoría son esporádicos y del 5 al 10% de origen genético. Los genes conocidos hasta la fecha y asociados con una predisposición hereditaria al cáncer de mama se han clasificado según su función en genes de alta, moderada y baja penetrancia.
Objetivo: Determinar mutaciones genéticas asociadas a cáncer de mama hereditario en mujeres nicaragüenses.
Materiales y método: 39 mujeres con diagnóstico histopatológico de cáncer de mama fueron reclutadas para participar en el estudio, previo consentimiento informado. Se tomó 5ml de sangre periférica de cada una de las pacientes para la extracción del ADN, luego se realizó el test genético a los genes BRCA1, BRCA2, Tp53, PALB2, CDH1, PTEN y CHEK2, determinando su significado clínico comparando las secuencias con las bases de datos del Breast Cancer Information Core (BIC) y ClinVar.
Resultados: El 10.2% (4/39) de las pacientes estudiadas son portadoras de una mutación patogénica en BRCA2 (5%), Tp53 y PALB2 (2.5% respectivamente), asociadas a cáncer de mama de origen hereditario. También se identificaron variaciones de significado clínico benigno, inciertas, variantes que aún no han sido reportadas en las bases de datos y otras con conflicto de patogenicidad.
Conclusión: Es necesario e importante incluir el diagnóstico molecular en pacientes nicaragüenses en riesgo a desarrollar cáncer de mama de origen hereditario, para su propio bienestar y el de sus familiares, logrando un diagnóstico precoz, mejorar la terapia y el seguimiento. Por lo tanto, recomendamos se integre el cribado genético para las mujeres nicaragüenses en riesgo a desarrollar esta enfermedad y en aquellas que ya la padecen.
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