Ann-Kristin Alteköester

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

David S. Ziegler, Ashleigh Sullivan, Dong-Anh Khuong-Quang, Anita Villani et autres

us, au, ca, in, sk, gb (code pays fourni par la source)

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

Ashleigh Sullivan, Dong-Anh Khuong-Quang, Anita Villani, Marie Wong et autres

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 …

au, ca (code pays fourni par la source)

Supplementary Figure S4 from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

Flowchart of the translation of GPV identified by PRISM research WGS into clinical care

Supplementary Table S1 from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

Representativeness of Study Participants

Supplementary Table S3 from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

Penetrance category assigned to each cancer predisposition gene

Supplementary Table S5 from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

Characteristics of the 131 individuals within the sarcoma group

Data from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

AbstractPurpose: The role of germline predisposition in pediatric cancer is increasingly recognized. However, the optimal approach to identifying cancer predisposing germline pathogenic variants (GPV) in children, and even the prevalence of GPVs among children with cancer, remain unclear. We examined GPV prevalence …

Supplementary Methods S1 from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

Survey Instruments for Oncology and Genetics Clinicians

Supplementary Table S2 from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

Genes examined for germline pathogenic variants

Supplementary Data S1 from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

Patient and variant characteristics.

Supplementary Figure S3 from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

Case examples demonstrating the utility of tumour molecular features to inform germline WGS analysis and interpretation, leading to higher diagnostic yield

Supplementary Table S4 from Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer

Noemi Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby et autres

List of cancer predisposition genes included in variant burden testing