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dc.contributor.authorBrown, Natasha J-
dc.contributor.authorBhatia, Kanika-
dc.contributor.authorTeague, Julie-
dc.contributor.authorWhite, Susan M-
dc.contributor.authorLo, Patrick-
dc.contributor.authorChallis, Jackie-
dc.contributor.authorBeshay, Victoria-
dc.contributor.authorSullivan, Michael-
dc.contributor.authorMalkin, David-
dc.contributor.authorHansford, Jordan R-
dc.identifier.citationFamilial cancer 2018; online first: 8 May-
dc.description.abstractThe 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.-
dc.subjectHomozygous germline-
dc.subjectLi-Fraumeni syndrome-
dc.subjectPediatric oncology-
dc.titleReport of a bi-allelic truncating germline mutation in TP53.-
dc.typeJournal Article-
dc.identifier.journaltitleFamilial cancer-
dc.identifier.affiliationVictorian Clinical Genetics Service, Melbourne, VIC, Australia-
dc.identifier.affiliationMurdoch Children's Research Institute, Melbourne, VIC, Australia-
dc.identifier.affiliationDepartment of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia-
dc.identifier.affiliationChildren's Cancer Centre, The Royal Children's Hospital, Melbourne, VIC, Australia-
dc.identifier.affiliationDepartment of Anatomic Pathology, The Royal Children's Hospital, Melbourne, VIC, Australia-
dc.identifier.affiliationDepartment of Paediatrics, University of Melbourne, Melbourne, VIC, Australia-
dc.identifier.affiliationDepartment of Neurosurgery, The Royal Children's Hospital, Melbourne, VIC, Australia-
dc.identifier.affiliationPeter MacCallum Cancer Institute, East Melbourne, VIC, Australia-
dc.identifier.affiliationDivision of Hematology/Oncology and Genetics and Genomic Biology Program, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada-
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