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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

P53 germline mutations in childhood cancers and cancer risk for carrier individuals.

The family history of cancer in children treated for a solid malignant tumour in the Paediatric Oncology Department at Institute Gustave-Roussy, has been investigated. In order to determine the role of germline p53 mutations in genetic predisposition to childhood cancer, germline p53 mutations were sought in individuals with at least one relative (first- or second-degree relative or first cousin) affected by any cancer before 46 years of age, or affected by multiple cancers. Screening for germline p53 mutation was possible in 268 index cases among individuals fulfilling selection criteria. Seventeen (6.3%) mutations were identified, of which 13 were inherited and four were de novo. Using maximum likelihood methods that incorporate retrospective family data and correct for ascertainment bias, the lifetime risk of cancer for mutation carriers was estimated to be 73% for males and nearly 100% for females with a high risk of breast cancer accounting for the difference. The risk of cancer associated with such mutations is very high and no evidence of low penetrance mutation was found. These mutations are frequently inherited but de novo mutations are not rare.[1]


  1. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Chompret, A., Brugières, L., Ronsin, M., Gardes, M., Dessarps-Freichey, F., Abel, A., Hua, D., Ligot, L., Dondon, M.G., Bressac-de Paillerets, B., Frébourg, T., Lemerle, J., Bonaïti-Pellié, C., Feunteun, J. Br. J. Cancer (2000) [Pubmed]
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