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Integración de las puntuaciones de riesgo poligénico del cáncer de mama a escala en el estudio WISDOM: un ensayo de

Kirkpatrick B Fergus¹, Rachel S Heise², Lisa Madlensky³

¹Department of Surgery, University of California, San Francisco, CA, USA.

Genome medicine

|August 28, 2025

Resumen

El estudio WISDOM muestra que las puntuaciones de riesgo poligénico (PRS) pueden personalizar el cribado del cáncer de mama. La integración de los PRS cambió moderadamente las recomendaciones para las mujeres, demostrando ser factible para un uso generalizado.

Área de la Ciencia:

En el campo de la oncología
La genética
Salud pública

Sus antecedentes:

El estudio Women Informed to Screen Depending On Measures of Risk (WISDOM) es un ensayo pionero en toda la población para el cribado personalizado del cáncer de mama.
Explora el uso de las puntuaciones de riesgo poligénico (PRS) para adaptar las estrategias de detección.
El estudio tiene como objetivo evaluar la adaptabilidad del PRS en diversas poblaciones y su impacto en las recomendaciones de cribado.

Objetivo del estudio:

Demostrar la viabilidad del uso de puntuaciones de riesgo poligénico (PRS) para el cribado personalizado del cáncer de mama.
Evaluar la adaptación de los modelos PRS para diversos grupos raciales y étnicos.
Cuantificar el impacto de la integración del PRS en las recomendaciones de detección del cáncer de mama.

Principales métodos:

Un ensayo de cribado aleatorizado y tolerante a las preferencias en el que participaron mujeres de 40 a 74 años sin antecedentes de cáncer de mama.
Comparación de las recomendaciones de cribado del modelo de riesgo clínico del Consorcio de Vigilancia del Cáncer de Mama (BCSC, por sus siglas en inglés) frente al modelo BCSC aumentado con PRS (BCSC-PRS).
El análisis se centró en los participantes del brazo basado en el riesgo del estudio WISDOM.

Principales resultados:

Se observaron diferencias estadísticamente significativas, aunque pequeñas, en el PRS entre los principales grupos raciales y étnicos.
Un PRS más alto se correlacionó con una mayor extensión de la historia familiar y un tejido mamario más denso.
El BCSC-PRS modificó las recomendaciones de cribado para el 14% de las mujeres de 40 a 49 años y el 10% de las mujeres de 50 a 74 años, con encuentros netos de cribado proyectados similares.

Conclusiones:

El estudio demuestra la viabilidad de la aplicación de puntuaciones de riesgo poligénico (PRS) para el cribado del cáncer de mama a escala.
La integración de los PRS condujo a ajustes moderados en las recomendaciones de cribado individuales.
La carga proyectada en el sistema de atención médica de este enfoque personalizado es mínima.

Palabras clave:

Neoplasia de las mamas Las puntuaciones de riesgo poligénico Pronóstico de riesgos Genética traslacional

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