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  1. Article

    Open Access

    Combination of PI3K and MEK inhibitors yields durable remission in PDX models of PIK3CA-mutated metaplastic breast cancers

    Metaplastic breast cancer (MBC) is a rare form of breast cancer characterized by an aggressive clinical presentation, with a poor response to standard chemotherapy. MBCs are typically triple-negative breast ca...

    F. Coussy, R. El Botty, M. Lavigne, C. Gu, L. Fuhrmann… in Journal of Hematology & Oncology (2020)

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  2. No Access

    Article

    Assessment of the functional impact of germline BRCA1/2 variants located in non-coding regions in families with breast and/or ovarian cancer predisposition

    The molecular mechanism of breast and/or ovarian cancer susceptibility remains unclear in the majority of patients. While germline mutations in the regulatory non-coding regions of BRCA1 and BRCA2 genes have been...

    E. Santana dos Santos, S. M. Caputo, L. Castera… in Breast Cancer Research and Treatment (2018)

  3. No Access

    Article

    Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

    BRCA1 and BRCA2 are the two major genes predisposing to breast and ovarian cancer. Whereas high de novo mutation rates have been demonstrated for several genes, only 11 cases of de novo BRCA1/2 mutations have bee...

    L Golmard, C Delnatte, A Laugé, V Moncoutier, C Lefol, K Abidallah, H Tenreiro… in Oncogene (2016)

  4. Article

    Open Access

    ATM has a major role in the double-strand break repair pathway dysregulation in sporadic breast carcinomas and is an independent prognostic marker at both mRNA and protein levels

    Ataxia telangiectasia mutated (ATM) is a kinase that has a central role in the maintenance of genomic integrity by activating cell cycle checkpoints and promoting repair of DNA double-strand breaks (DSB). In b...

    S Rondeau, S Vacher, L De Koning, A Briaux, A Schnitzler… in British Journal of Cancer (2015)

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  5. No Access

    Article

    Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition

    Hereditary breast cancers account for up to 5–10 % of breast cancers and a majority are related to the BRCA1 and BRCA2 genes. However, many families with breast cancer predisposition do not carry any known mutati...

    E. Rouleau, B. Jesson, A. Briaux, C. Nogues… in Breast Cancer Research and Treatment (2012)