title: Li-Fraumeni Syndrome and p53 in 2015: Celebrating their Silver Anniversary.
abstract: In a typical morning in the Cancer Genetics Clinic at The Hospital for Sick Children in Toronto, the following array of patients and families might be seen: a family of three children, all harbouring a mutation of the succinyl dehydrogenase C gene inherited from their father who had had extensive surgery several years ago for a secreting paraganglioma; three families with Li-Fraumeni syndrome, each with at least one child harbouring a TP53 gene mutation conferring a lifetime risk of cancer approaching 100% and currently undergoing surveillance for early tumour detection; two children with Li-Fraumeni syndrome undergoing treatment for cancer - one having had three cancer diagnoses before 19 months of age and the other just completing therapy for metastatic adrenocortical carcinoma at age 3; two children with von Hippel-Lindau disease being monitored for persistent pancreatic neuroendocrine tumors and cerebellar hemangioblastomas, respectively; and one child with Beckwith-Wiedeman syndrome and Wilms tumor and another child completing therapy for a pleuropulmonary blastoma (PPB).
authors.affiliation: . david.malkin@sickkids.ca.
authors.forename: David
authors.initials: D
authors.lastname: Malkin
mesh_terms: D000846:Anniversaries and Special Events; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008297:Male; D009154:Mutation; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53