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https://repository.monashhealth.org/monashhealthjspui/handle/1/52593
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DC Field | Value | Language |
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dc.contributor.author | Fuentes-Bolanos N.A. | - |
dc.contributor.author | Courtney E. | - |
dc.contributor.author | Mayoh C. | - |
dc.contributor.author | Warby M. | - |
dc.contributor.author | Lau L.M.S. | - |
dc.contributor.author | Wong-Erasmus M. | - |
dc.contributor.author | Khuong-Quang D.-A. | - |
dc.contributor.author | Barahona P. | - |
dc.contributor.author | Padhye B. | - |
dc.contributor.author | El-Kamand S. | - |
dc.contributor.author | Nunag S. | - |
dc.contributor.author | Ajuyah P. | - |
dc.contributor.author | Sherstyuk A. | - |
dc.contributor.author | Altekoester A.-K. | - |
dc.contributor.author | Sullivan A. | - |
dc.contributor.author | Poplawski N. | - |
dc.contributor.author | Kiraly-Borri C. | - |
dc.contributor.author | O'Sullivan S. | - |
dc.contributor.author | Marfan H. | - |
dc.contributor.author | Alli R. | - |
dc.contributor.author | Curnow L. | - |
dc.contributor.author | Bhatia K. | - |
dc.contributor.author | Anazodo A. | - |
dc.contributor.author | Trahair T.N. | - |
dc.contributor.author | Mateos M. | - |
dc.contributor.author | Hansford J.R. | - |
dc.contributor.author | Dholaria H. | - |
dc.contributor.author | Josephi-Taylor S. | - |
dc.contributor.author | Moore A.S. | - |
dc.contributor.author | Nicholls W. | - |
dc.contributor.author | Gottardo N.G. | - |
dc.contributor.author | Downie P. | - |
dc.contributor.author | Khaw S.-L. | - |
dc.contributor.author | Tapp H. | - |
dc.contributor.author | McCowage G. | - |
dc.contributor.author | Dalla-Pozza L. | - |
dc.contributor.author | Alvaro F. | - |
dc.contributor.author | Wood P.J. | - |
dc.contributor.author | Tyrrell V. | - |
dc.contributor.author | Haber M. | - |
dc.contributor.author | Cowley M.J. | - |
dc.contributor.author | Ekert P.G. | - |
dc.contributor.author | Marshall G.M. | - |
dc.contributor.author | Kirk J. | - |
dc.contributor.author | Tucker K. | - |
dc.contributor.author | Pinese M. | - |
dc.contributor.author | Ziegler D.S. | - |
dc.date.accessioned | 2024-10-16T01:56:29Z | - |
dc.date.available | 2024-10-16T01:56:29Z | - |
dc.date.copyright | 2024 | - |
dc.date.issued | 2024-10-10 | en |
dc.identifier.citation | medRxiv. (no pagination), 2024. Date of Publication: 09 Aug 2024. | - |
dc.identifier.uri | https://repository.monashhealth.org/monashhealthjspui/handle/1/52593 | - |
dc.description.abstract | Germline predisposition has a significant role in paediatric cancer. However, the optimal approach to identifying cancer-causing germline pathogenic variants (GPV) in children, and even the prevalence of GPV among children with cancer, remain unclear. Here we report our findings from a comprehensive survey of GPV in 496 children with poor-prognosis cancer. By integrating tumour and germline molecular profiling we identified GPV in 15.5% of patients, 48.1% of whom had not met clinical genetic testing criteria. Although the cancer type was outside the recognised phenotypic spectrum for 43.7% of reported GPV, 63.2% of these were clinically actionable for cancer risk. Integrated germline-tumour analysis increased the GPV detection rate by 8.5%, and informed germline interpretation in 14.3% of patients with GPV, highlighting the value of integrated analyses. Our findings establish the benefit of broad integrated tumour-germline screening, over phenotype-guided testing, to detect GPV in children with poor prognosis cancers.Copyright The copyright holder for this preprint is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license. | - |
dc.publisher | medRxiv | - |
dc.relation.ispartof | medRxiv | - |
dc.subject.mesh | cancer risk | - |
dc.subject.mesh | genetic screening | - |
dc.title | Integrated germline and somatic molecular profiling to detect cancer predisposition has a high clinical impact in poor-prognosis paediatric cancer. | - |
dc.type | Preprint | - |
dc.type.studyortrial | Observational study (cohort, case-control, cross sectional, or survey) | - |
dc.identifier.doi | http://monash.idm.oclc.org/login?url=https://dx.doi.org/10.1101/2024.08.08.24311493 | - |
dc.publisher.place | United States | - |
dc.identifier.institution | (Fuentes-Bolanos, Courtney, Mayoh, Warby, Lau, Wong-Erasmus, Barahona, El-Kamand, Nunag, Altekoester, Anazodo, Trahair, Mateos, Tyrrell, Haber, Cowley, Ekert, Marshall, Pinese, Ziegler) Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, Kensington, NSW, Australia | - |
dc.identifier.institution | (Fuentes-Bolanos, Courtney, Mayoh, Lau, Wong-Erasmus, Anazodo, Trahair, Mateos, Tyrrell, Haber, Cowley, Ekert, Marshall, Tucker, Pinese, Ziegler) School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Kensington, NSW, Australia | - |
dc.identifier.institution | (Fuentes-Bolanos, Courtney, Warby, Lau, Anazodo, Trahair, Mateos, Marshall, Tucker, Ziegler) Kids Cancer Centre, Sydney Children's Hospital, Randwick, NSW, Australia | - |
dc.identifier.institution | (Khuong-Quang, Bhatia, Khaw) Children's Cancer Centre, Royal Children's Hospital, Parkville, VIC, Australia | - |
dc.identifier.institution | (Khuong-Quang, Khaw, Ekert) Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia | - |
dc.identifier.institution | (Padhye, McCowage, Dalla-Pozza) Cancer Centre for Children, The Children's Hospital at Westmead, Westmead, NSW, Australia | - |
dc.identifier.institution | (Padhye) Kids Research, Children's Cancer Research Unit, The Children's Hospital at Westmead, Westmead, NSW, Australia | - |
dc.identifier.institution | (Ajuyah) Broad Institute of MIT and Harvard, Cambridge, MA, United States | - |
dc.identifier.institution | (Sherstyuk) Thermo Fisher Scientific, Sydney, NSW, Australia | - |
dc.identifier.institution | (Sullivan, Moore, Nicholls) Oncology Service, Children's Health Queensland Hospital & Health Service, Brisbane, QLD, Australia | - |
dc.identifier.institution | (Poplawski) Adult Genetics Unit, Medicine Directorate, Royal Adelaide Hospital, Adelaide, SA, Australia | - |
dc.identifier.institution | (Poplawski) University Department of Paediatrics, University of Adelaide, Adelaide, SA, Australia | - |
dc.identifier.institution | (Kiraly-Borri, O'Sullivan) Genetic Health Western Australia, Perth, WA, Australia | - |
dc.identifier.institution | (Marfan, Alli) Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4029, Australia | - |
dc.identifier.institution | (Curnow) Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia | - |
dc.identifier.institution | (Anazodo, Tucker) Prince of Wales Hospital Nelune Comprehensive Cancer Centre, Randwick, NSW, Australia | - |
dc.identifier.institution | (Hansford, Tapp) Michael Rice Centre for Hematology and Oncology, Women's and Children's Hospital, Adelaide, SA, Australia | - |
dc.identifier.institution | (Hansford, Tapp) South Australia Health and Medical Research Institute, South Australia ImmunoGENomics Cancer Institute, University of Adelaide, Adelaide, SA, Australia | - |
dc.identifier.institution | (Dholaria, Gottardo) Department of Paediatric and Adolescent Oncology and Haematology, Perth Children's Hospital, Nedlands, WA, Australia | - |
dc.identifier.institution | (Dholaria, Gottardo) Brain Tumour Research Program, Telethon Kids Institute, Nedlands, WA, Australia | - |
dc.identifier.institution | (Dholaria) Division of Paediatrics, University of Western Australia Medical School, Nedlands, WA, Australia | - |
dc.identifier.institution | (Josephi-Taylor) Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia | - |
dc.identifier.institution | (Josephi-Taylor) Speciality of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, NSW, Australia | - |
dc.identifier.institution | (Downie, Wood) Monash Children's Hospital, Melbourne, VIC, Australia | - |
dc.identifier.institution | (Downie) Hudson Institute of Medical Research, Melbourne, VIC, Australia | - |
dc.identifier.institution | (Alvaro) John Hunter Children's Hospital, New Lambton Heights, NSW, Australia | - |
dc.identifier.institution | (Wood) Centre for Cancer Research, Hudson Institute of Medical Research, Clayton, VIC, Australia | - |
dc.identifier.institution | (Ekert) Peter MacCallum Cancer Centre, Melbourne, VIC, Australia | - |
dc.identifier.institution | (Kirk) Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Westmead, NSW, Australia | - |
dc.identifier.institution | (Kirk) University of Sydney Centre for Cancer Research, The Westmead Institute for Medical Research, Westmead, NSW, Australia | - |
dc.identifier.affiliationmh | (Downie, Wood) Monash Children's Hospital, Melbourne, VIC, Australia | - |
dc.identifier.affiliationmh | (Downie) Hudson Institute of Medical Research, Melbourne, VIC, Australia | - |
item.openairetype | Preprint | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.fulltext | No Fulltext | - |
crisitem.author.dept | Paediatric - Haematology-Oncology (Children's Cancer Centre) | - |
Appears in Collections: | Articles |
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