Article
Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development.
International journal of molecular sciences - 21 Jun 2023
Pires Sara Ferreira, Barros Juliana Sobral de, Costa Silvia Souza da, Carmo Gabriel Bandeira do, Scliar Marília de Oliveira, Lengert André van Helvoort, Boldrini Érica, Silva Sandra Regini Morini da, Vidal Daniel Onofre, Maschietto Mariana, Krepischi Ana Cristina Victorino
Abstract excerpt
Osteosarcoma (OS) is the most prevalent type of bone tumor, but slow progress has been achieved in disentangling the full set of genomic events involved in its initiation and progression. We assessed by NGS the mutational spectrum of 28 primary OSs from Brazilian patients, and identified 445 potentially deleterious SNVs/indels and 1176 copy number alterations (CNAs). TP53 was the most recurrently mutated gene,...
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