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Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry

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  1. Article

    Open Access

    Stem cell-like transcriptional reprogramming mediates metastatic resistance to mTOR inhibition

    Inhibitors of the mechanistic target of rapamycin (mTOR) are currently used to treat advanced metastatic breast cancer. However, whether an aggressive phenotype is sustained through adaptation or resistance to...

    F Mateo, E J Arenas, H Aguilar, J Serra-Musach, G Ruiz de Garibay, J Boni in Oncogene (2017)

  2. Article

    Open Access

    A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

    Defective DNA repair has a causal role in hereditary colorectal cancer (CRC). Defects in the base excision repair gene MUTYH are responsible for MUTYH-associated polyposis and CRC predisposition as an autosomal r...

    E Theodoratou, H Campbell, A Tenesa, R Houlston, E Webb in British Journal of Cancer (2010)

  3. Article

    Open Access

    The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

    The TP53 pathway, in which TP53 and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in BRCA1- and BRCA2-mediated carcinogenesis. A single nucleotide pol...

    O M Sinilnikova, A C Antoniou, J Simard, S Healey, M Léoné in British Journal of Cancer (2009)

  4. Article

    Open Access

    Gene expression profiling integrated into network modelling reveals heterogeneity in the mechanisms of BRCA1 tumorigenesis

    Gene expression profiling has distinguished sporadic breast tumour classes with genetic and clinical differences. Less is known about the molecular classification of familial breast tumours, which are generall...

    R Fernández-Ramires, X Solé, L De Cecco, G Llort, A Cazorla in British Journal of Cancer (2009)

  5. Article

    Open Access

    Intron splice acceptor site polymorphism in the hMSH2 gene in sporadic and familial colorectal cancer

    A polymorphism in hMSH2 gene has been associated with an increased susceptibility to develop colorectal cancer (CRC). Here we show that it is a genetic risk factor for CRC in the Spanish population. However, its ...

    M Palicio, I Blanco, S Tórtola, I González, E Marcuello in British Journal of Cancer (2000)