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    Por favor, use este identificador para citar o enlazar este ítem:https://uvadoc.uva.es/handle/10324/64453

    Título
    BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study
    Autor
    de Juan, Inmaculada
    Palanca, Sarai
    Domenech, Asunción
    Feliubadaló, Lidia
    Segura, Ángel
    Osorio, Ana
    Chirivella, Isabel
    de la Hoya, Miguel
    Sánchez, Ana Beatriz
    Infante Sanz, María Del MarAutoridad UVA Orcid
    Tena, Isabel
    Diez, Orland
    Garcia-Casado, Zaida
    Vega, Ana
    Teulé, Àlex
    Barroso, Alicia
    Pérez, Pedro
    Duran Dominguez, María MercedesAutoridad UVA Orcid
    Carrasco, Estela
    Juan-Fita, Mª José
    Murria, Rosa
    Llop, Marta
    Barragan, Eva
    Izquierdo, Ángel
    Benítez, Javier
    Caldés, Trinidad
    Salas, Dolores
    Bolufer, Pascual
    Año del Documento
    2015
    Editorial
    Springer
    Descripción
    Producción Científica
    Documento Fuente
    Familial Cancer, 14 (4), pp. 505-513.
    Resumen
    Male breast cancer (MBC) is a rare disease that represents <1 % of all breast cancers (BCs). We analyze the results of a multicenter study performed in Spanish familial MBC including family history of hereditary breast and ovarian cancer syndrome (HBOCS) and clinicopathological features. We also study the relationship between BRCA1/BRCA2 mutational status in male relatives affected with cancer (MAC) and, family history and tumor types. The study included 312 men index cases with family history of HBOCS and 61 MAC BRCA1/2 mutation-carriers. Family history, histological grade (HG), clinicopathological and immunohistochemistry data were collected. BRCA1/2 mutation analyses were performed by direct sequencing or screening methods and the large rearrangements by multiplex ligation dependent probe amplification. We found 49 mutation-carriers (15.7 %), 95.9 % with BRCA2 mutations. BRCA2 mutation-carriers were associated with families with at least one MBC and one BC in female (type II; p = 0.05). Strong association were found between the presence of pathogenic mutations in MBCs and the advanced HG (p = 0.003). c.658_659delTG, c.2808_2811delACAA, c.6275_6276delTT and c.9026_9030delATCAT were the most prevalent mutations. In 61 MAC we found 20 mutations in BRCA1 and 41 in BRCA2. For MAC we show that mutational status was differentially associated with family history (p = 0.018) and tumor type, being BRCA2 mutations linked with BC and prostatic cancer (p = 0.018). MBC caused by BRCA1/2 mutations define two types of MBCs. The most frequent caused by BRCA2 mutation linked to type II families and the rarest one attributed to BRCA1 mutation. Tumor associated with MAC suggest that only BRCA2 mutations have to do with a specific type of cancer (BC and prostatic cancer); but the linkage to tumors is questionable for BRCA1 mutations.
    ISSN
    1389-9600
    Revisión por pares
    SI
    DOI
    10.1007/s10689-015-9814-z
    Patrocinador
    Cáncer, Spanish Health Research Fund; Carlos III Health Institute; Catalan Health Institute and Autonomous Government of Catalonia; Mutua Madrilen˜a Foundation (FMMA); Spanish Association against Cancer (AECC08); FMM Foundation given to AV and the following projects: ISCIIIRETIC; RD06/0020/1051; RD12/0036/008; PI10/ 01422; PI10/00748; PI13/00285; 2009SGR290; RTICC 06/0020/1060; FISPI12/00070 and 10PXIB 9101297PR.
    Version del Editor
    https://doi.org/10.1002/humu.23583
    Idioma
    eng
    URI
    https://uvadoc.uva.es/handle/10324/64453
    Tipo de versión
    info:eu-repo/semantics/acceptedVersion
    Derechos
    openAccess
    Aparece en las colecciones
    • DEP06 - Artículos de revista [352]
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    Universidad de Valladolid

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