Now showing items 1-11 of 11

    • Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. 

      Hamdi, Yosr; Soucy, Penny; Kuchenbaeker, Karoline B; Pastinen, Tomi; Droit, Arnaud; Lemaçon, Audrey; Adlard, Julian et al. (Springer, 2017-01)
      $\textit{Purpose}$ $\textit{Cis}$-acting regulatory SNPs resulting in differential allelic expression (DAE) may, in part, explain the underlying phenotypic variation associated with many complex diseases. To investigate ...
    • Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers 

      Kuchenbaecker, Karoline Bernhardine; Neuhausen, Susan L; Robson, Mark; Barrowdale, Daniel; McGuffog, Lesley; Mulligan, Anna Marie; Andrulis, Irene L et al. (2014-12-31)
    • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 

      Dunning, Alison Margaret; Michailidou, Kyriaki; Kuchenbaecker, Karoline Bernhardine; Thompson, Deborah Jane; French, Juliet D; Beesley, Jonathan; Healey, Catherine S et al. (2016)
    • Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. 

      Mulligan, Anna Marie; Couch, Fergus J; Barrowdale, Daniel; Domchek, Susan M; Eccles, Diana; Nevanlinna, Heli; Ramus, Susan J et al. (2011-11-02)
    • Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ Mutation Carriers 

      Vigorito, Elena; Kuchenbaecker, Karoline B; Beesley, Jonathan; Adlard, Julian; Agnarsson, Bjarni A; Andrulis, Irene L; Arun, Banu K et al. (2016-07-27)
    • 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. (2016)
      A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify ...
    • Identification of four novel susceptibility loci for estrogen receptor negative breast cancer 

      Couch, Fergus J; Kuchenbaecker, Karoline B; Michailidou, Kyriaki; Mendoza-Fandino, Gustavo A; Nord, Silje; Lilyquist, Janna; Olswold, Curtis et al. (2016)
      Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast ...
    • Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer 

      Couch, Fergus J.; Kuchenbaecker, Karoline B.; Michailidou, Kyriaki; Mendoza-Fandino, Gustavo A.; Nord, Silje; Lilyquist, Janna; Olswold, Curtis et al. (Nature Publishing Group, 2016-04-27)
      Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10$^{−8}$) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated ...
    • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus 

      Zeng, Chenjie; Guo, Xingyi; Long, Jirong; Kuchenbaecker, Karoline B; Droit, Arnaud; Michailidou, Kyriaki; Ghoussaini, Maya et al. (2016)
      BACKGROUND: Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD: We performed a fine-scale ...
    • Identification of six new susceptibility loci for invasive epithelial ovarian cancer 

      Kuchenbaecker, Karoline Bernhardine; Ramus, Susan J; Tyrer, Jonathan; Lee, Andrew; Shen, Howard C; Beesley, Jonathan; Lawrenson, Kate et al. (2015-01-12)
    • The OncoArray Consortium: a Network for Understanding the Genetic Architecture of Common Cancers 

      Amos, Christopher I; Dennis, Joe; Wang, Zhaoming; Byun, Jinyoung; Schumacher, Fredrick R; Gayther, Simon A; Casey, Graham et al. (2016-10-03)
      BACKGROUND: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an ...