Journal article
Integrated germline and somatic molecular profiling to detect cancer predisposition has a high clinical impact in poor-prognosis paediatric cancer.
Noemi A Fuentes-Bolanos, Eliza Courtney, Chelsea Mayoh, Meera Warby, Loretta MS Lau, Marie Wong-Erasmus, Dong-Anh Khuong-Quang, Paulette Barahona, Bhavna Padhye, Naomi Warren, Sam El-Kamand, Sheena Nunag, Pamela Ajuyah, Alexandra Sherstyuk, Ann-Kristin Altekoester, Ashleigh Sullivan, Nicola Poplawski, Catherine Kiraly-Borri, Sarah O'Sullivan, Helen Marfan Show all
Clin Cancer Res | Published : 2026
Abstract
PURPOSE: The role of germline predisposition in pediatric cancer is increasingly recognised. However, the optimal approach to identifying cancer predisposing germline pathogenic variants (GPV) in children, and even the prevalence of GPV among children with cancer, remain unclear. We examined GPV prevalence, and diagnostic yield of different test approaches, within a national paediatric precision oncology program. EXPERIMENTAL DESIGN: We performed prospective rapid-turnaround whole-genome and transcriptome profiling of 496 consecutively recruited children with poor-prognosis cancer, to identify genetic variants linked to cancer risk. RESULTS: Integration of tumor and germline molecular profil..
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