期刊
EUROPEAN JOURNAL OF CANCER
卷 41, 期 11, 页码 1597-1603出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.ejca.2005.01.026
关键词
choroid plexus carcinoma; childhood brain tumours; TP53 germline mutations; Li-Fraumeni syndrome; genetic counselling; Turner syndrome
类别
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. (c) 2005 Elsevier Ltd. All rights reserved.
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