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Genotype and phenotype in carriers of germline TP53 mutations

✍ Scribed by Varley, Jenny; Evans, Gareth; Birch, Jillian; Kelsey, Anna

Book ID
109831516
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
39 KB
Volume
27
Category
Article
ISSN
1061-4036

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Mutations in the TP53 gene are considered to be among the most common genetic alterations in human cancers. Both somatic and germline mutations have been found. Using polymerase chain reaction (PCR). constant denaturant gel electrophoresis (CDGE), and denaturing gradient gel electrophoresis (DGGE),

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Three germline mutations in the TP53 tumor-suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome. A nonsense mutation in codon 306 was foun