Abstract

Cancer in children is generally considered a rare and sporadic event. Recent reports suggest that at least 10% of paediatric cancer patients harbour a germline mutation in a cancer predisposition gene. Although some of these children will have a positive family history suggestive of a cancer predisposition syndrome, many others will not. Other features suggesting a genetic cancer predisposition include multiple cancers, earlier age at diagnosis, physical findings suggestive of a predisposition syndrome and the occurrence of specific tumour types that frequently occur in the context of genetic predisposition. Evidence from recent paediatric studies suggests that surveillance and early detection of cancer in individuals carrying a germline cancer-predisposing mutation result in improved outcomes.

Key words: cancer in children, cancer predisposition syndrome, surveillance protocol.