Article
Childhood cancer predisposition study: a prospective registry and biorepository protocol.
BMJ open - 5 Aug 2026
Perrino Melissa R, MacFarland Suzanne P, Maese Luke, Vagher Jennie, Kamihara Junne, Rednam Surya, Lupo Philip J, Brodeur Garrett M, Schiffman Joshua, Diller Lisa, Desrosiers-Battu Lauren, Plon Sharon E, Nichols Kim E, Volchenboum Samuel L, Malkin David, Villani Anita, Porter Christopher C
Abstract excerpt
INTRODUCTION: Cancer is the most common cause of disease-related mortality in children, highlighting the urgent need for improved care in this population. It is estimated that >15% of children diagnosed with cancer harbour a germline pathogenic variant in a cancer predisposition gene which confers an increased risk to develop cancer. There are over 100 genes associated with cancer predisposition syndromes (CPSs)...
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