A pilot exome sequencing study suggests that germline variants influence methotrexate-induced toxicities in pediatric patients with localized osteosarcoma.
Francesca MinnaiSara NociNunzia ManganoLoris De CeccoCristina MeazzaMonica TerenzianiMaura MassiminoFrancesca ColomboPublished in: Pediatric blood & cancer (2023)
Further studies in larger series and with functional characterization of the identified associations are needed; nonetheless, this pilot study prompts the relevance of broadly investigating variants along the whole genome, to identify new potential pharmacogenes, beyond drug metabolism, transport, and receptor candidate genes.