Revisiones en Cáncer H0156

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Revisión

Cáncer de mama hereditario

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Hasta el 10 % de los pacientes con cáncer de mama (CM) han heredado mutaciones en línea germinal que a menudo conducen a la pérdida de la función de los genes implicados en la reparación del ADN y a la activación del punto de control del ciclo celular. Además de los genes BRCA1 y BRCA2, se ha establecido asociación con riesgo elevado o moderado de cáncer de mama para otros genes, como PALB2, ATM y CHEK2. La incorporación de técnicas de NGS al estudio genético permite su identificación. Los individuos portadores sanos y afectados pueden beneficiarse de recomendaciones de medidas de detección precoz y de reducción de riesgo. Actualmente, las opciones de tratamiento son limitadas para los pacientes con CM mutado en gBRCA. Los inhibidores de la poli(ADP-ribosa) polimerasa (PARP) son una opción terapéutica dirigida que ha demostrado actividad en el cáncer de mama hereditario.

Palabras Clave: BRCA1. BRCA2. Inhibidores PARP. Cáncer de mama hereditario.

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