Publicado ene 30, 2023



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Luisana Molina Pimienta https://orcid.org/0000-0001-5505-9710

Juan Carmilo Salgado Sánchez https://orcid.org/0000-0002-5956-4834

Ingrid Hernández Cuello https://orcid.org/0000-0003-0254-9921

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Resumen

ARID1A (AT-rich interaction domain 1A) es una subunidad de los complejos SWI/SNF específicamente mutada en ~20 % de los cánceres humanos primarios. La inactivación de ARID1A a través de mutaciones somáticas y otros mecanismos epigenéticos da como resultado la pérdida de las funciones de guardián y cuidador en las células, lo que promueve la iniciación del tumor. Se ha documentado una correlación entre mutaciones de pérdida de función en ARID1A y la presencia de mutaciones activadoras en PIK3CA, pérdida de la expresión de PTEN y la pérdida de la función de p53. Las mutaciones de ARID1A estaban presentes en el 2,5 % de todos los cánceres de mama; no obstante, el porcentaje de cáncer de mama con mutaciones en ARID1A aumenta en los cánceres metastásicos un 12 %, o en los inflamatorios, un 10 %. La pérdida de la función de la ARID1A en cáncer de mama se adquiere con mayor frecuencia posterior al tratamiento y está asociada con la resistencia al tratamiento hormonal y con agentes quimioterapéuticos. Además, conduce a una reparación deficiente de las rupturas de doble cadena, que sensibilizan las células a los inhibidores de PARP. Por último, las alteraciones en ARID1A podrían ser un biomarcador de respuesta a inhibidores de punto de control.

Keywords

ARID1A, breast cancer, SWI/SNF complex, therapeutic targetsARID1A, cáncer de mama, complejo SWI/SNF, agentes terapéuticos

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Cómo citar
Molina Pimienta, L., Salgado Sánchez, J. C., & Hernández Cuello, I. (2023). Implicaciones en el tratamiento de pacientes con cáncer de mama y alteraciones en ARID1A. Universitas Medica, 64(1). https://doi.org/10.11144/Javeriana.umed64-1.tpcm
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