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    Familial adenomatous polyposis: from bedside to benchside.

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    Authors
    O'Sullivan, M J
    McCarthy, T V
    Doyle, C T
    Affiliation
    Department of Pathology, Cork University Hospital, Ireland.
    Issue Date
    2012-02-03T15:14:42Z
    MeSH
    Adenomatous Polyposis Coli/*genetics
    Adenomatous Polyposis Coli Protein
    Chromosomes, Human, Pair 5
    Cytoskeletal Proteins/genetics
    Genes, APC
    Humans
    Mutation
    *Trans-Activators
    alpha Catenin
    beta Catenin
    
    Metadata
    Show full item record
    Citation
    Am J Clin Pathol. 1998 May;109(5):521-6.
    Journal
    American journal of clinical pathology
    URI
    http://hdl.handle.net/10147/209192
    PubMed ID
    9576568
    Abstract
    Familial adenomatous polyposis (FAP) is a dominantly inherited cancer-predisposition syndrome with an incidence of between 1:17,000 and 1:5,000. The condition has been causally linked to mutation of the adenomatous polyposis coli (APC) gene located at 5q21. Virtually all mutations in the APC gene are truncating mutations, resulting in loss of function of the APC protein. Spontaneous germline mutation of this gene occurs frequently and accounts for the high incidence of FAP. The gene is somatically mutated at an early point in the colorectal adenoma-carcinoma progression. Somatic mutations of the APC gene are also frequently observed in a variety of other human carcinomas. Isolation of the APC gene has led to the recognition of genotype-phenotype correlations and, together with protein studies, has helped to elucidate the structure and function of the APC protein. This report aims to take the reader from a clinical appreciation to a molecular understanding of FAP.
    Language
    eng
    ISSN
    0002-9173 (Print)
    0002-9173 (Linking)
    Collections
    Cork University Hospital

    entitlement

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