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    Por favor, use este identificador para citar o enlazar este ítem:https://uvadoc.uva.es/handle/10324/64455

    Título
    GALNT12 is Not a Major Contributor of Familial Colorectal Cancer Type X
    Autor
    Seguí, Nuria
    Pineda, Marta
    Navarro, Matilde
    Lázaro, Conxi
    Brunet, Joan
    Infante Sanz, María Del MarAutoridad UVA Orcid
    Duran Dominguez, María MercedesAutoridad UVA Orcid
    Soto, José Luis
    Blanco, Ignacio
    Capellá, Gabriel
    Valle, Laura
    Año del Documento
    2014
    Editorial
    John Wiley & Sons
    Documento Fuente
    Human Mutation 2014; 35(1): pp. 50-52.
    Resumo
    Previous evidence indicates that mutations in the GALNT12 gene might cause a fraction of the unexplained familial colorectal cancer (CRC) cases: GALNT12 is located in 9q22-33, in close proximity to a CRC linkage peak; and germline missense variants that reduce the enzymatic activity of the protein have been identified in CRC patients, some of them with familial CRC history. We hypothesized that mutations in GALNT12 might explain part of the high-risk families grouped as familial CRC type X (fCRC-X), that is, Amsterdam-positive families with mismatch repair proficient tumors. We sequenced the coding regions of the gene in 103 probands of fCRC-X families, finding no functionally relevant mutations. Our results rule out GALNT12 as a major high CRC susceptibility gene. Additional studies are required to provide further evidence about its role as a moderate/low susceptibility gene in familial aggregation of cancer.
    ISSN
    1059-7794
    Revisión por pares
    SI
    DOI
    10.1002/humu.22454
    Idioma
    eng
    URI
    https://uvadoc.uva.es/handle/10324/64455
    Tipo de versión
    info:eu-repo/semantics/publishedVersion
    Derechos
    openAccess
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    • DEP06 - Artículos de revista [353]
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    Universidad de Valladolid

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