title: Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.
abstract: We present five families of paediatric patients suffering from choroid plexus carcinoma in which we found germline TP53 mutations. Only one of the families conformed to the criteria of Li-Fraumeni syndrome and only three (including the Li-Fraumeni syndrome family) met the Chompret criteria for germline TP53 mutation testing. In the remaining two families no family history of cancer was identified and/or the parents of the patient were shown not to carry the mutation. Our results give further support to the notion that the occurrence of this rare paediatric tumour, especially in combination with a positive family history of cancer, but possibly also without any family history, may be an indicator of a germline TP53 mutation. The identification of this genetic defect has important consequences for cancer prevention and treatment in affected families.
authors.affiliation: Institute of Biology and Medical Genetics, Charles University Second Medical School and University Hospital Motol, Prague, Czech Republic.
authors.forename: Vera
authors.initials: V
authors.lastname: Krutilkova
authors.forename: Marie
authors.initials: M
authors.lastname: Trkova
authors.forename: Julie
authors.initials: J
authors.lastname: Fleitz
authors.forename: Vladimir
authors.initials: V
authors.lastname: Gregor
authors.forename: Kamila
authors.initials: K
authors.lastname: Novotna
authors.forename: Anna
authors.initials: A
authors.lastname: Krepelova
authors.forename: David
authors.initials: D
authors.lastname: Sumerauer
authors.forename: Roman
authors.initials: R
authors.lastname: Kodet
authors.forename: Simona
authors.initials: S
authors.lastname: Siruckova
authors.forename: Pavlina
authors.initials: P
authors.lastname: Plevova
authors.forename: Sarka
authors.initials: S
authors.lastname: Bendova
authors.forename: Petra
authors.initials: P
authors.lastname: Hedvicakova
authors.forename: Nicholas K
authors.initials: NK
authors.lastname: Foreman
authors.forename: Zdenek
authors.initials: Z
authors.lastname: Sedlacek
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D002648:Child; D016545:Choroid Plexus Neoplasms / Q000235:genetics*; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree