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    Por favor, use este identificador para citar o enlazar este ítem:https://uvadoc.uva.es/handle/10324/73281

    Título
    Unraveling the molecular effect of a rare missense mutation in BRIP1 associated with inherited breast cancer
    Autor
    Velázquez Pérez, Carolina
    Esteban Cardeñosa, Eva
    Lastra, Enrique
    Abella, Luis E.
    de la Cruz, Virginia
    Domínguez Lobatón, María CarmenAutoridad UVA Orcid
    Duran Dominguez, María MercedesAutoridad UVA Orcid
    Infante Sanz, María Del MarAutoridad UVA Orcid
    Año del Documento
    2019-01
    Editorial
    Wiley
    Documento Fuente
    Molecular Carcinogenesis,2019 Jan;58(1):156-160
    Résumé
    BRIP1 is a component of the Fanconi Anemia/BRCA pathway responsible for DNA reparation via helicase activity. Some heterozygous variants in BRIP1 could contribute to Hereditary Breast Cancer through a defective DNA repair. The clinical utility of BRIP1 mutations in a familial cancer context is compromised by the conflicting interpretation of “variants of uncertain significance” (VUS). Defining the clinical significance of variants identified in genetic tests is a major challenge; therefore, studies that evaluate the biological effect of these variants are definitely necessary. To contribute to this purpose, we have characterized the variant c.550G>T of BRIP1, a missense mutation with little evidence about its pathogenicity. Since Human Splicing FinderTM predicts the creation of a new exonic splicing enhancer site we decided to perform cDNA analysis revealing that the c.550G>T mutation located in exon 6 led to an aberrant transcript causing exon 5 skipping. Our results demonstrate that the c.550G>T BRIP1 variant disrupts normal splicing, causing exon 5 skipping. Considering that the exon 5 encodes the helicase domain of BRIP1, it is expected an alteration of the function. This finding enhances the interpretation of this VUS, suggesting a potential pathogenic effect.
    ISSN
    0899-1987
    Revisión por pares
    SI
    DOI
    10.1002/mc.22910
    Idioma
    spa
    URI
    https://uvadoc.uva.es/handle/10324/73281
    Tipo de versión
    info:eu-repo/semantics/draft
    Derechos
    openAccess
    Aparece en las colecciones
    • DEP06 - Artículos de revista [352]
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    Nombre:
    2019 Velazquez_et_al BRIP1 Molecular_Carcinogenesis.pdf
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