A surveillance clinic for children and adolescents with, or at risk of, hereditary cancer predisposition syndromes

Nicholas Leedman, Murray Princehorn, Nicholas Gottardo, Claire Franklin, Rebecca D'Souza and Catherine E Kiraly‐Borri
Med J Aust 2021; 214 (7): . || doi: 10.5694/mja2.51002
Published online: 19 April 2021

To the Editor: Hereditary cancer predisposition syndromes (HCPS) account for at least 10% of paediatric cancers.1 Li‐Fraumeni syndrome (LFS) is a dominant HCPS caused by mutations in the TP53 gene and is associated with an 80–90% lifetime risk of cancer, commencing in infancy.2 Children of affected individuals are at 50% risk of inheriting the family mutation.

  • 1 University of Western Australia, Perth, WA, Australia
  • 2 Perth Children’s Hospital, Perth, WA, Australia
  • 3 Telethon Kids Cancer Centre, Brain tumour Research Program, Telethon Kids Institute, Perth, WA, Australia
  • 4 Genetic Services of Western Australia, Perth, WA, Australia

Competing interests:

No relevant disclosures.

  • 1. Scollon S, Anglin AK, Thomas M, et al. A comprehensive review of pediatric tumors and associated cancer predisposition syndromes. J Genet Couns 2017; 26: 387–434.
  • 2. Amadou A, Achatz MIW, Hainaut P. Revisiting tumor patterns and penetrance in germline TP53 mutation carriers: temporal phases of Li‐Fraumeni syndrome. Curr Opin Oncol 2018; 30: 23–29.
  • 3. Villani A, Shore A, Wasserman JD, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li‐Fraumeni syndrome: 11 year follow‐up of a prospective observational study. Lancet Oncol 2016; 17: 1295–1305.
  • 4. eviQ. TP53 (Li‐Fraumeni) — risk management (child) [website]. Sydney: Cancer Institute NSW; 2012. (viewed July 2020).
  • 5. McGill BC, Wakefield CE, Vetsch J, et al. “I remember how I felt, but I don’t remember the gene”: families’ experiences of cancer‐related genetic testing in childhood. Pediatr Blood Cancer 2019; 66: e27762.


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