Now showing items 1-2 of 2

    • 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 ...