Now showing items 1-7 of 7

    • 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, 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. (BioMed Central, 2014-12-31)
    • 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)
    • Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers 

      Walker, Logan C; Fredericksen, Zachary S; Wang, Xianshu; Tarrell, Robert; Pankratz, Vernon Shane; Lindor, Noralane M; Beesley, Jonathan et al. (2010-11-29)
    • 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. 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 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)
    • Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression 

      Darabi, Hatef; McCue, Karen; Beesley, Jonathan; Michailidou, Kyriaki; Nord, Silje; Kar, Siddhartha; Humphreys, Keith et al. (Elsevier, 2015-06-11)