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Familial Cancer

, Volume 18, Issue 1, pp 101–104 | Cite as

Report of a bi-allelic truncating germline mutation in TP53

  • Natasha J. BrownEmail author
  • Kanika Bhatia
  • Julie Teague
  • Susan M. White
  • Patrick Lo
  • Jackie Challis
  • Victoria Beshay
  • Michael Sullivan
  • David Malkin
  • Jordan R. Hansford
Short Communication
  • 193 Downloads

Abstract

The TP53 gene is fundamental to genomic integrity, cell cycle regulation, and apoptosis; it is the most commonly mutated gene in human cancer. Heterozygous germline mutations cause the autosomal dominant cancer predisposition syndrome, Li-Fraumeni Syndrome. Homozygous germline TP53 mutations in humans are rare. We report an infant from a consanguineous family who presented with synchronous malignancies. Remarkably, he carries a homozygous germline TP53 mutation (NM_000546.4:c.52delA), predicted to cause protein truncation. The family history is consistent with Li-Fraumeni syndrome.

Keywords

Li-Fraumeni syndrome TP53 Pediatric oncology Homozygous germline 

Notes

Acknowledgements

We are grateful to the family who provided consent for publication of this manuscript. This work is supported in part by a grant from the Canadian Institutes of Health Research (MOP-300105) to DM.

Compliance with ethical standards

Conflict of interest

The authors declare no conflict of interest.

Informed consent

Informed consent was obtained from all individuals included in this study, including the publication of photographs.

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Copyright information

© Springer Science+Business Media B.V., part of Springer Nature 2018

Authors and Affiliations

  • Natasha J. Brown
    • 1
    • 2
    • 3
    Email author
  • Kanika Bhatia
    • 4
  • Julie Teague
    • 5
  • Susan M. White
    • 1
    • 2
    • 6
  • Patrick Lo
    • 7
  • Jackie Challis
    • 1
  • Victoria Beshay
    • 8
  • Michael Sullivan
    • 4
  • David Malkin
    • 9
  • Jordan R. Hansford
    • 2
    • 4
    • 6
  1. 1.Victorian Clinical Genetics ServiceMelbourneAustralia
  2. 2.Murdoch Children’s Research InstituteMelbourneAustralia
  3. 3.Department of Clinical GeneticsAustin HealthHeidelbergAustralia
  4. 4.Children’s Cancer CentreThe Royal Children’s HospitalMelbourneAustralia
  5. 5.Department of Anatomic PathologyThe Royal Children’s HospitalMelbourneAustralia
  6. 6.Department of PaediatricsUniversity of MelbourneMelbourneAustralia
  7. 7.Department of NeurosurgeryThe Royal Children’s HospitalMelbourneAustralia
  8. 8.Peter MacCallum Cancer InstituteEast MelbourneAustralia
  9. 9.Division of Hematology/Oncology and Genetics and Genomic Biology Program, Department of Pediatrics, The Hospital for Sick ChildrenUniversity of TorontoTorontoCanada

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