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Isabel de Rojas-P on Muck Rack

Isabel de Rojas-P

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Articles

Loss of BAX in a neuroblastoma patient reveals delayed apoptosis but sustained chemotherapy sensitivity

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By Guillem Pons, Maria Jose Perez-Garcia, Gabriela Guillén, Andrea Vilaplana, Sergio Manresa-Vera, Marta I Garrido, Lorena Valero-Arrese, Raquel Hladun, Mònica Sánchez-Guixé, Josep Roma, Aroa Soriano, Lucas Moreno, Miguel Segura, Adrià Molero-Valenzuela, Isabel de Rojas-P, Paula Pérez-Albert, Marta Miera-Maluenda, Ariadna Boloix
| Nature Verified
Abstract The clinical interpretation of rare genomic alterations remains a major challenge in precision oncology, particularly in pediatric cancers. We describe a relapsed high-risk neuroblastoma harboring biallelic BAX inactivation, caused by a pathogenic mutation in one allele (p.E41Gfs*33) and loss of the second, resulting in complete tumor BAX deficiency.
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