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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 | Date: | 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. | URI: | https://ahro.austin.org.au/austinjspui/handle/1/17852 | DOI: | 10.1007/s10689-018-0087-1 | Journal: | Familial cancer | PubMed URL: | 29737433 | Type: | Journal Article | Subjects: | Homozygous germline Li-Fraumeni syndrome Pediatric oncology TP53 |
Appears in Collections: | Journal articles |
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