Now showing items 30-33 of 33

    • 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, 2016-09-05)
      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 ...
    • 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)
      Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association ...
    • RAD51B in Familial Breast Cancer 

      Pelttari, Liisa M.; Khan, Sofia; Vuorela, Mikko; Kiiski, Johanna I.; Vilske, Sara; Nevanlinna, Viivi; Ranta, Salla et al. (PLOS, 2016-05-05)
      Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study ...
    • The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1and BRCA2mutation carriers 

      Spurdle, Amanda B.; Antoniou, Antonis C.; Duffy, David L.; Pandeya, Nirmala; Kelemen, Livia; Chen, Xiaoqing; Peock, Susan et al. (2004-12-16)
      Abstract Introduction The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9–32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have ...