Now showing items 1-3 of 3

    • BRCA2 hypomorphic missense variants confer moderate risks of breast cancer 

      Shimelis, Hermela; Mesman, Romy LS; Von Nicolai, Catharina; Ehlen, Asa; Guidugli, Lucia; Martin, Charlotte; Calleja, Fabienne MGR et al.
      Breast cancer risks conferred by many germline missense variants in the $\textit{BRCA1}$ and $\textit{BRCA2}$ genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, ...
    • 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 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. (2016-10-03)
      Abstract Background P.I157T is a CHEK2 missense mutation associated with a modest increase in breast cancer risk. Previously, another CHEK2 mutation, the protein truncating ...