Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes

Sarcomas are a group of rare cancers that mainly affect young people. We aimed to understand the genetic causes of sarcomas by analyzing a group of genes in 177 Brazilian children, adolescents, and young adults with sarcomas. We showed that 21.5% of these patients had harmful genetic variants that could raise the risk of developing sarcomas. Some of these variants were previously linked to sarcoma risk, while others were new discoveries. The study highlights the need for genetic testing strategies for sarcoma patients and their families and may influence future research and clinical practice in terms of genetic screening recommendations. (By Giovana Tardin Torrezan, PhD, https://jmg.bmj.com/content/early/2023/08/03/jmg-2023-109269 )

Dr. Torrezan’s research group

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