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Title: Report of a bi-allelic truncating germline mutation in TP53.
Austin Authors: Brown, Natasha J;Bhatia, Kanika;Teague, Julie;White, Susan M;Lo, Patrick;Challis, Jackie;Beshay, Victoria;Sullivan, Michael;Malkin, David;Hansford, Jordan R
Affiliation: Victorian Clinical Genetics Service, Melbourne, Victoria, Australia
Murdoch Children's Research Institute, Melbourne, Victoria, Australia
Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia
Children's Cancer Centre, The Royal Children's Hospital, Melbourne, Victoria, Australia
Department of Anatomic Pathology, The Royal Children's Hospital, Melbourne, Victoria, Australia
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
Department of Neurosurgery, The Royal Children's Hospital, Melbourne, Victoria, Australia
Peter MacCallum Cancer Institute, East Melbourne, Victoria, Australia
Division of Hematology/Oncology and Genetics and Genomic Biology Program, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada
Issue Date: 8-May-2018 2018-05-08
Publication information: Familial cancer 2018; online first: 8 May
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.
DOI: 10.1007/s10689-018-0087-1
PubMed URL: 29737433
Type: Journal Article
Subjects: Homozygous germline
Li-Fraumeni syndrome
Pediatric oncology
Appears in Collections:Journal articles

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