Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations

• Published in: European journal of cancer (1990) Vol. 41; no. 11; pp. 1597 - 1603
• Main Authors: Krutilkova, Vera, Trkova, Marie, Fleitz, Julie, Gregor, Vladimir, Novotna, Kamila, Krepelova, Anna, Sumerauer, David, Kodet, Roman, Siruckova, Simona, Plevova, Pavlina, Bendova, Sarka, Hedvicakova, Petra, Foreman, Nicholas K., Sedlacek, Zdenek
• Format: Journal Article
• Language: English
• Published: Oxford Elsevier Ltd 01.07.2005; Elsevier
• Subjects: Adolescent; Adult; Amino Acid Sequence - genetics; Biological and medical sciences; Child; Childhood brain tumours; Choroid plexus carcinoma; Choroid Plexus Neoplasms - genetics; Female; Genes, p53 - genetics; Genetic counselling; Germ-Line Mutation - genetics; Humans; Li–Fraumeni syndrome; Male; Medical sciences; Mutation, Missense - genetics; Pedigree; Pharmacology. Drug treatments; TP53 germline mutations; Tumors; Turner syndrome; Choroid plexus carcinoma; Li–Fraumeni syndrome; Turner syndrome; Genetic counselling; Childhood brain tumours; TP53 germline mutations; Chromosomal aberration; Choroid plexus; Dysgenesia; Carcinoma; Central nervous system; Encephalon; Cancerology; TP53 Gene; Gonad; Genetics; Child; Human; Ependymal organ; Multiple; Genital system; Sexual differentiation disorder; Pharmacology; Malignant tumor; Female genital diseases; Genetic disease; Li Fraumeni syndrome; Malformation; Germ line; Mutation; Li-Fraumeni syndrome
• ISSN: 0959-8049; 1879-0852
• DOI: 10.1016/j.ejca.2005.01.026

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.