Inherited cancer susceptibility syndromes in paediatric practice

J Paediatr Child Health. 2007 Apr;43(4):219-29. doi: 10.1111/j.1440-1754.2007.01027.x.


Over the last decade there have been rapid advances in our knowledge about the molecular basis of many inherited disorders. Molecular testing is now available for many conditions and may assist in the management of the individual and their extended family. One area where the use of genetic testing has expanded rapidly is in the area of hereditary cancer, particularly in relation to hereditary breast/ovarian and hereditary bowel cancer syndromes. Although individually uncommon, there are also a number of rare cancer susceptibility syndromes affecting the paediatric population, where genetic testing may assist in patient management. The following review is a practical guide for clinicians about the role of genetic testing for some rare tumour susceptibilities pertaining to children, including retinoblastoma, familial adenomatous polyposis, juvenile polyposis syndromes, Von Hippel-Lindau disease, multiple endocrine neoplasia, Li-Fraumeni syndrome and neurofibromatosis. We concentrate on disorders where germline mutation testing is routinely available and influences patient management. We have placed specific emphasis on the paediatric presentation of these disorders and provide some guidance to clinicians about surveillance protocols in affected individuals and 'at-risk' family members.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Neoplasms / genetics*
  • Pediatrics*