This month Nature has published a new article that presents a comprehensive analysis of genetic alterations related to several cancer types. This study includes 961 tumours from children, adolescents and young adults (up to 25 years).

Different studies have been undertaken in this research, such as mutation frequencies across cancer types, mutational processes in childhood cancers, germline variants in cancer predisposition genes, recurrent structural and copy-number variants or drug targets in childhood cancers.

Thanks to the study several structural variants have been identified, such as hyperdiploidy, linked to TP53 mutation status and mutational signatures. Moreover, the resulting dataset provides a data resource for paediatric cancer research. For instance, it is suggested that ~ 6% of all childhood cancer patients may carry a causative germline variant. This information, together with previous findings, demonstrate the relevance of genetic predisposition in childhood cancer.

All data from the article were downloaded from the European Genome-Phenome Archive (EGA) using the accession numbers:

For further information, the article is available in: The landscape of genomic alterations across childhood cancers