Now showing items 5-6 of 6

    • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing 

      Easton, Douglas F; Lesueur, Fabienne; Decker, Brennan; Michailidou, Kyriaki; Li, Jun; Allen, Jamie; Luccarini, Craig et al. (BMJ Group, 2016-02-26)
      Background BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and ...
    • 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 ...