Osteosarkoma pediatrikoarekiko suszeptibilitatean inplikatuta dauden aldaera genetikoak

Abstract

Osteosarcoma (OS) is the most common primary bone cancer that occurs primarily in children, adolescents, and young adults. The fact that OS occurs at an early age suggests that there is a strong genetic component at its source. Several studies have suggested that susceptibility to OS development is due to small common low-pene trance variants, such as SNPs. The implication of the common genetic variants in the susceptibility to cancer has already been demonstrated in several studies. One of the most non-coding RNAs studied in cancer are miRNAs and are known to be involved in the origin and evolution of various cancers. Therefore, we analyzed all the genetic vari-ability of the genes of the miRNAs processing path and their implication in the suscep-tibility of the OS. As a result, we decided to validate the association between the ge-netic variants previously associated with the risk to develop OS and to look for new risk markers in the genes related to the miRNAs. Our results indicated that a SNP in the CTLA4 gene could be a marker of susceptibility to develop OS along with the hotspot in the 14q32 region.