Now showing items 2-7 of 7

    • Functional Mechanisms Underlying Pleiotropic Risk Alleles at the 19p13.1 Breast-Ovarian Cancer Susceptibility Locus 

      Lawrenson, Kate; Kar, Siddhartha; McCue, Karen; Kuchenbaeker, Karoline; Michailidou, Kyriaki; Tyrer, Jonathan; Beesley, Jonathan et al. (Nature Publishing Group, 2016)
      A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. We analyzed 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identified ...
    • Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer 

      French, Juliet D.; Johnatty, Sharon E.; Lu, Yi; Beesley, Jonathan; Gao, Bo; Kalimutho, Murugan; Henderson, Michelle J. et al. (Impact Journals, 2016-01-31)
      Women with epithelial ovarian cancer (EOC) are usually treated with platinum/taxane therapy after cytoreductive surgery but there is considerable inter-individual variation in response. To identify germline single-nucleotide ...
    • High resolution melting for mutation scanning of TP53 exons 5-8 

      Krypuy, Michael; Ahmed, Ahmed A.; Etemadmoghadam, Dariush; Hyland, Sarah J.; Australian Ovarian Cancer Study Group; Brenton, James D.; Fox, Stephen B. et al. (2007-08-31)
      Abstract Background p53 is commonly inactivated by mutations in the DNA-binding domain in a wide range of cancers. As mutant p53 often influences response to therapy, effective and rapid methods to scan for mutations in ...
    • Identification and characterisation of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk 

      Lin, Wei-Yu; Camp, Nicola J.; Ghoussaini, Maya; Beesley, Jonathan; Michailidou, Kyriaki; Hopper, John L.; Apicella, Carmel et al. (Oxford University Press, 2014-08-28)
      Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility we carried out dense genotyping of this region ...
    • Identification of six new susceptibility loci for invasive epithelial ovarian cancer 

      Kuchenbaecker, Karoline B.; Ramus, Susan J.; Tyrer, Jonathan; Lee, Andrew; Shen, Howard C.; Beesley, Jonathan; Lawrenson, Kate et al. (2015-01-12)
      Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high ...
    • PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS 

      Southey, Melissa C.; Goldgar, David; Winqvist, Robert; Pylkäs, Katri; Couch, Fergus; Tischkowitz, Marc; Foulkes, William et al. (BMJ Publishing Group, 2016)
      Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are ...