Author

A. Villani

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Open access Aug 2026

High clinical utility of comprehensive multi-omic molecular profiling of rare and hard-to-diagnose pediatric tumors

The role of comprehensive genomic profiling for therapeutic decision-making is established in high-risk pediatric cancers, but its utility in rare and diagnostically challenging tumors is unclear. Here we report 123 non-high-risk patients enrolled in the Australian ZERO Childhood Cancer Program for diagnostic uncertain...

David S. Ziegler, A. Sullivan, Dong-Anh Khuong-Quang et al. · Research Square · 0 citations

#gene editing Sep 2026

Abstract PR004: Characterization of patient-specific CHEK2 genetic variants in high-risk neuroblastoma

Neuroblastoma (NB) is the most common extra-cranial solid tumor in children and accounts for approximately 10% of pediatric cancer deaths. Next-generation sequencing studies of patients with high-risk NB identified multiple pathogenic/likely pathogenic (P/LP) germline and oncogenic somatic variants in the Checkpo...

Xue-Ting Xiong, Meagan Beffort, L. Kee et al. · Cancer Research · 0 citations

Review Open access Aug 2026

Childhood cancer predisposition study: a prospective registry and biorepository protocol

Introduction Cancer is the most common cause of disease-related mortality in children, highlighting the urgent need for improved care in this population. It is estimated that >15% of children diagnosed with cancer harbour a germline pathogenic variant in a cancer predisposition gene which confers an increased risk to d...

Melissa R Perrino, Suzanne P. MacFarland, Luke D. Maese et al. · BMJ Open · 0 citations