Article
Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT study.
BMJ open - 30 May 2023
Fuentes Bolanos Noemi Auxiliadora, Padhye Bhavna, Daley Macabe, Hunter Jacqueline, Hetherington Kate, Warby Meera, Courtney Eliza, Kirk Judy, Josephi-Taylor Sarah, Chen Yuyan, Alvaro Frank, Barlow-Stewart Kristine, Wong-Erasmus Marie, Barahona Paulette, Ajuyah Pamela, Altekoester Ann-Kristin, Tyrrell Vanessa J, Lau Loretta M S, Wakefield Claire, Sylvester Dianne, Tucker Katherine, Pinese Mark, Dalla Pozza Luciano, O'Brien Tracey A
Abstract excerpt
INTRODUCTION: Identifying an underlying germline cancer predisposition (CP) in a child with cancer has potentially significant implications for both the child and biological relatives. Cohort studies indicate that 10%-15% of paediatric cancer patients carry germline pathogenic or likely pathogenic variants in cancer predisposition genes, but many of these patients do not meet current clinical criteria for genetic...
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