• Researchers identify pathogenic germline variants in children with sporadic neuroblastoma

    1 month ago - By Healio

    Approximately 16% of children with sporadic neuroblastoma harbored rare pathogenic or likely pathogenic variants in a cancer predisposition gene, most of which were inherited, according to study results.
    The findings, presented at the virtual American Association for Cancer Research Annual Meeting, also showed children with these variants had poorer outcomes.
    Only around 1% to 2% of children with neuroblastoma have a family history of disease with underlying causal germline mutations in ALK or PHOX2B.
    Although the remainder of cases have been thought to arise sporadically, data from
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