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    A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier.

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    Authors
    Varley, Jennifer
    Thorncroft, Mary R
    McGown, Gail
    Tricker, Karen J
    Birch, Jillian M
    Evans, D Gareth R
    Affiliation
    CRC Department of Cancer Genetics, Christie Hospital, Manchester, U.K.
    Issue Date
    1996-08
    
    Metadata
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    Abstract
    We report here a family with some of the characteristics of Li-Fraumeni syndrome (Li-Fraumeni-like) in which there is a 2 base pair deletion within exon 6 of TP53 in two affected individuals. Of particular interest in this family is a study of loss of heterozygosity (LOH) of the TP53 gene, and the finding that there is LOH in all cancers available for study from mutation carriers, and additionally from a benign endometrial polyp from one of those patients. Two other family members, one with a rectal carcinoma aged 55, the other with two separate benign lesions under the age of 45, were both wild-type for the TP53 mutation.
    Citation
    A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier. 1996, 90 (1):14-6 Cancer Genet. Cytogenet.
    Journal
    Cancer Genetics and Cytogenetics
    URI
    http://hdl.handle.net/10541/95609
    DOI
    10.1016/0165-4608(96)00059-3
    PubMed ID
    8780740
    Type
    Article
    Language
    en
    ISSN
    0165-4608
    ae974a485f413a2113503eed53cd6c53
    10.1016/0165-4608(96)00059-3
    Scopus Count
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    All Paterson Institute for Cancer Research

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