Now showing items 1-10 of 10

    • Common variants in the ATM, BRCA1, BRCA2, CHEK2 & TP53 cancer susceptibility genes are unlikely to increase breast cancer risk 

      Baynes, Caroline; Healey, Catherine S.; Pooley, Karen A.; Scollen, Serena A.; Luben, Robert; Thompson, Deborah J.; Pharoah, Paul D. P. et al. (2007-04-11)
      Abstract Introduction Certain rare, familial mutations in the ATM, BRCA1, BRCA2, CHEK2 or TP53 genes increase susceptibility to breast cancer but it has not, until now, been clear whether common polymorphic variants in the ...
    • CYP2D6 gene variants: association with breast cancer specific survival in a cohort of breast cancer patients from the United Kingdom treated with adjuvant tamoxifen 

      Abraham, Jean E.; Maranian, Mel J.; Driver, Kristy E.; Platte, Radka; Kalmyrzaev, Bolot; Baynes, Caroline; Luccarini, Craig et al. (2010-08-23)
      Abstract Introduction Tamoxifen is one of the most effective adjuvant breast cancer therapies available. Its metabolism involves the phase I enzyme, cytochrome P4502D6 (CYP2D6), encoded by the highly polymorphic CYP2D6 ...
    • Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation 

      Ghoussaini, Maya; Edwards, Stacey L.; Michailidou, Kyriaki; Nord, Silje; Cowper-Sal•lari, Richard; Desai, Kinjal; Kar, Siddhartha et al. (NPG, 2014-09-23)
      GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine-mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the “iCOGS” genotyping ...
    • Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 

      Glubb, Dylan M.; Maranian, Mel J.; Michailidou, Kyriaki; Pooley, Karen A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia et al. (Cell/Elsevier, 18/12/2014)
      Genome Wide Association Studies (GWAS) revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analysed 909 ...
    • Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. 

      Glubb, Dylan M.; Maranian, Mel J.; Michailidou, Kyriaki; Pooley, Karen A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia et al. (2015-12-18)
    • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 

      Michailidou, Kyriaki; Beesley, Jonathan; Lindstrom, Sara; Canisius, Sander; Dennis, Joe; Lush, Michael J.; Maranian, Mel J. et al. (NPG, 2015-03-09)
      Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new ...
    • 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 ...
    • 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 ...
    • A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects 

      Jervis, Sarah; Song, Honglin; Lee, Andrew; Dicks, Ed; Harrington, Patricia; Baynes, Caroline; Manchanda, Ranjit et al. (BMJ Publishing, 2015-05-29)
      Background: Although BRCA1 and BRCA2 mutations account for only ∼27% of the familial aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that considers the effects of BRCA1, BRCA2 and other ...
    • Seq4SNPs: new software for retrieval of multiple, accurately annotated DNA sequences ready formatted for SNP assay design. 

      Field, Helen I.; Scollen, Serena A.; Luccarini, Craig; Baynes, Caroline; Morrison, Jonathan; Dunning, Alison M.; Easton, Douglas F. et al. (2009-06-12)
      Abstract Background In moderate-throughput SNP genotyping there was a gap in the workflow, between choosing a set of SNPs and submitting their sequences to proprietary assay design software, which was not met by existing ...