Now showing items 32-34 of 34

    • 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 ...
    • Patient survival and tumor characteristics associated with $\textit{CHEK2}$:p.I157T – findings from the Breast Cancer Association Consortium 

      Muranen, Taru A.; Blomqvist, Carl; Dörk, Thilo; Jakubowska, Anna; Heikkilä, Päivi; Fagerholm, Rainer; Greco, Dario et al. (BioMed Central, 2016-10-03)
      $\textbf{Background}$ P.I157T is a $\textit{CHEK2}$ missense mutation associated with a modest increase in breast cancer risk. Previously, another $\textit{CHEK2}$ mutation, the protein truncating c.1100delC has been ...
    • 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 ...