Evaluation of single nucleotide polymorphisms of BRCA1, CDKN1A, TP53BP, and XRCC1 in multiple myeloma patients undergoing hematopoietic stem cells transplant and their association with clinical outcomes

Basic Information

Funding Cycle : 2022-2023
Name : David Garrido
Type of Award : Career Development Award
Home Institution : Hospital de Clínicas "Dr. Manuel Quintela", Uruguay
Host Institution : Institute of Experimental Medicine, CONICET-Academia Nacional de Medicina, Buenos Aires, Argentina


Autologous Stem Cell Transplantation represents a widely accessible therapy in Latin America, particularly crucial given the limited availability of new medications in the region, including monoclonal antibodies, next-generation proteasome inhibitors, immunomodulators, and advanced cellular therapies.
This study aims to assess the impact of the genetic profile, particularly single nucleotide variants (SNVs), on the clinical outcomes of multiple myeloma (MM) patients following consolidation with high-dose melphalan (HDM) and ASCT. Initially, we identified SNVs through PCR amplification and Sanger sequencing of relevant genetic regions. Subsequently, a comprehensive pharmacogenomic analysis was conducted using the Illumina Infinium Global Screening Array v3.0 (GSA). Key outcomes include response rate, progression-free survival, and overall survival.

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The International Myeloma Society is a professional, scientific, and medical society established to bring together clinical and experimental scientists involved in the study of myeloma. The purpose of this society is to promote research, education, clinical studies (including diagnosis and treatment), workshops, conferences, and symposia on all aspects of multiple myeloma worldwide.

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