Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/134542
Citations | ||
Scopus | Web of Science® | Altmetric |
---|---|---|
?
|
?
|
Type: | Journal article |
Title: | Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer |
Author: | Wong, M. Mayoh, C. Lau, L.M.S. Khuong-Quang, D.-A. Pinese, M. Kumar, A. Barahona, P. Wilkie, E.E. Sullivan, P. Bowen-James, R. Syed, M. Martincorena, I. Abascal, F. Sherstyuk, A. Bolanos, N.A. Baber, J. Priestley, P. Dolman, M.E.M. Fleuren, E.D.G. Gauthier, M.-E. et al. |
Citation: | Nature Medicine, 2020; 26(11):1742-1753 |
Publisher: | Springer Nature |
Issue Date: | 2020 |
ISSN: | 1078-8956 1546-170X |
Statement of Responsibility: | Marie Wong ... Jordan R. Hansford ... et al. |
Abstract: | The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable molecular aberrations (39.9% in WGS and RNAseq, 35.1% in WGS only and 25.0% in RNAseq only). Of these patients, 93.7% had at least one germline or somatic aberration, 71.4% had therapeutic targets and 5.2% had a change in diagnosis. WGS identified pathogenic cancer-predisposing variants in 16.2% of patients. In 76 central nervous system tumors, methylome analysis confirmed diagnosis in 71.1% of patients and contributed to a change of diagnosis in two patients (2.6%). To date, 43 patients have received a recommended therapy, 38 of whom could be evaluated, with 31% showing objective evidence of clinical benefit. Comprehensive molecular profiling resolved the molecular basis of virtually all high-risk cancers, leading to clinical benefit in some patients. |
Keywords: | Whole genome sequencing |
Rights: | © The Author(s), under exclusive licence to Springer Nature America, Inc. 2020 |
DOI: | 10.1038/s41591-020-1072-4 |
Grant ID: | http://purl.org/au-research/grants/nhmrc/1059804 http://purl.org/au-research/grants/nhmrc/GNT1157871 |
Published version: | http://dx.doi.org/10.1038/s41591-020-1072-4 |
Appears in Collections: | Medicine publications |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.