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

Our findings establish the clinical benefit and feasibility of integrated tumor-germline whole genome screening to detect GPV in children with poor-prognosis cancers and their first-degree relatives.

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Publication Details

Journal
Clinical Cancer Research
Published
2026-02-13
DOI
https://doi.org/10.1158/1078-0432.ccr-25-3806
Primary Topic
Acute Lymphoblastic Leukemia research
Type
article
Field-Weighted Citation Impact
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article

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

Pamela Ajuyah, M. Haber, Geoffrey McCowage, P. Downie et al.
Clinical Cancer Research
Acute Lymphoblastic Leukemia research
article

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

Pamela Ajuyah, M. Haber, Geoffrey McCowage, P. Downie, Noemi Fuentes-Bolanos, Nicholas G. Gottardo, Marion K. Mateos, Cathy Kiraly‐Borri, Paulette Barahona, Alexandra Sherstyuk, Jordan R. Hansford, Luciano Dalla‐Pozza, Andrew S. Moore, Marie Wong, Frank Alvaro, Sam El-Kamand, Hetal Dholaria, David S. Ziegler, Heather Tapp, Chelsea Mayoh, Bhavna Padhye, Dong-Anh Khuong-Quang, Eliza Courtney, Antoinette Catherine Anazodo, Kanika Bhatia, Ann-Kristin Alteköester, Vanessa Tyrrell, Mark Pinese, Helen Marfan, Mark J. Cowley, Lisette Curnow, Meera Warby, Paul G. Ekert, Wayne Nicholls, Ashleigh Sullivan, Sheena Nunag, Rozanna Alli, G M Marshall, Loretta MS Lau, Judy Kirk, Sarah O'Sullivan, Paul J. Wood, Sarah Josephi-Taylor, Katherine Tucker, Nicola Poplawski, Naomi Warren, Toby N. Trahair, Seong-Lin Khaw
article en

Abstract

Our findings establish the clinical benefit and feasibility of integrated tumor-germline whole genome screening to detect GPV in children with poor-prognosis cancers and their first-degree relatives.

Clinical Cancer Research
Broad Institute (US), The University of Sydney (AU), Royal Adelaide Hospital (AU), Royal Children's Hospital (AU), The Kids Research Institute Australia (AU), The University of Western Australia (AU), Royal Brisbane and Women's Hospital (AU), Princess Margaret Hospital for Children (AU), Peter MacCallum Cancer Centre (AU), Women's and Children's Hospital (AU), King Edward Memorial Hospital (AU), Children's Hospital at Westmead (AU), Hudson Institute of Medical Research (AU), Westmead Hospital (AU), UNSW Sydney (AU), Children’s Health Queensland Hospital and Health Service (AU), Monash Children’s Hospital (AU), Prince of Wales Hospital (AU), Victorian Clinical Genetics Services (AU), Children's Cancer Institute Australia (AU), Sydney Children's Hospital (AU), Westmead Institute (AU), South Australian Health and Medical Research Institute (AU), John Hunter Children's Hospital (AU), Westmead Institute for Medical Research (AU), The University of Adelaide (AU)
No poverty
Openalex Percentile: Top 58%
Acute Lymphoblastic Leukemia research
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