REPISALUD es el REPositorio Institucional de SALUD del Instituto de Salud Carlos III (ISCIII) y sus Fundaciones, el Centro Nacional de Investigaciones Cardiovasculares (CNIC) y el Centro Nacional de Investigaciones Oncológicas (CNIO), en el que se recoge en un único archivo digital y de acceso libre, la producción científica y académica de estos centros de referencia en sus áreas.

Informes y estudios institucionales del ISCIII sobre COVID-19

Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1. 

We analyzed single nucleotide polymorphisms (SNPs) in PKNOX1 (rs2839629) and in the intergenic region between PKNOX1 and CBS (rs915854) by Sanger sequencing in 88 patients with multiple myeloma treated with bortezomib. All patients (n = 13) harboring a homozygous mutation in PKNOX1 (rs2839629) also...

HOPE (SOLTI-1903) breast cancer study: real-world, patient-centric, clinical practice study to assess the impact of genomic data on next treatment decision-choice in patients with locally advanced or metastatic breast cancer. 

BACKGROUND Metastatic breast cancer (mBC) causes nearly all BC-related deaths. Next-generation sequencing (NGS) technologies allow for the application of personalized medicine using targeted therapies that could improve patients' outcomes. However, NGS is not routinely used in the clinical practic...

Comparison of the 2022 and 2017 European LeukemiaNet risk classifications in a real-life cohort of the PETHEMA group. 

Next-Generation Sequencing is needed for the accurate genetic risk stratification of acute myeloid leukemia according to European LeukemiaNet (ELN) guidelines. We validated and compared the 2022 ELN risk classification in a real-life cohort of 546 intensively and 379 non-intensively treated patient...

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