Comprehensive genome and transcriptome profiling can inform the diagnosis, prognosis and management of relapsed/refractory (R/R) solid malignancies, yet its integration into clinical care has lagged despite strong biological rationale. We evaluated the clinical utility of whole genome and transcriptome analysis (WGTA)...
K. Wee, Eric J. Zhao, Cassidy Clemente-Jones et al.· British Journal of Haematolo...· 0 citations
Childhood cancer predisposition syndromes (CPSs) are individually rare but collectively account for approximately 15%-20% of pediatric cancers. Advances in genomic testing have identified more than 100 cancer susceptibility genes, enabling earlier recognition of at-risk children and prompting implementation of structur...
K. Fung, Caroline Rutten, A. Villani et al.· Radiographics· 0 citations
Genetic predisposition contributes to a much higher proportion of cancer in children than previously appreciated. This creates a unique opportunity to develop improved methods to identify children at increased risk for cancer, enable early detection or prevention of tumors, and improve cure rates with decreased m...
Suzanne P. MacFarland, Lisa R. Diller, Maria Frazer et al.· Cancer Research· 0 citations
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
Roles for certain genetic variants in CHEK2 in NB are supported, as well as potential mechanistic targets for high-risk or therapy-resistant NB, and preclinical information is provided to inform diagnostics and potential therapeutic strategies for high-risk NB.
Xue-Ting Xiong, Meagan Beffort, L. Kee et al.· Cancer Research· 0 citations
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
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