Article
Integrated Germline and Somatic Molecular Profiling to Detect Cancer Predisposition Has a High Clinical Impact in Poor-Prognosis Pediatric Cancer.
Clinical cancer research : an official journal of the American Association for Cancer Research - 15 May 2026
Fuentes-Bolanos Noemi A, Courtney Eliza K, Mayoh Chelsea, Warby Meera, Lau Loretta M S, Wong-Erasmus Marie, Khuong-Quang Dong-Anh, Barahona Paulette, Padhye Bhavna, Warren Naomi, El-Kamand Sam, Nunag Sheena, Ajuyah Pamela, Sherstyuk Alexandra, Altekoester Ann-Kristin, Sullivan Ashleigh, Poplawski Nicola, Kiraly-Borri Catherine, O'Sullivan Sarah, Mar Fan Helen, Alli Rozanna, Curnow Lisette, Bhatia Kanika, Anazodo Antoinette, Trahair Toby N, Mateos Marion K, Hansford Jordan R, Dholaria Hetal, Josephi-Taylor Sarah, Moore Andrew S, Nicholls Wayne, Gottardo Nicholas G, Downie Peter, Khaw Seong-Lin, Tapp Heather, McCowage Geoffrey, Dalla-Pozza Luciano, Alvaro Frank, Wood Paul J, Tyrrell Vanessa, Haber Michelle, Cowley Mark J, Ekert Paul G, Marshall Glenn M, Kirk Judy, Tucker Katherine, Pinese Mark, Ziegler David S
Abstract excerpt
PURPOSE: 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 and diagnostic yield of different test approaches within a national pediatric precision oncology program....
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