Now showing items 28-36 of 36

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

      Easton, Douglas Frederick; 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 Derek; 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 ...
    • 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 ...
    • 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 ...
    • Performance of automated scoring of ER, PR, HER2, CK5/6 and EGFR in breast cancer tissue microarrays in the Breast Cancer Association Consortium 

      Howat, William; Blows, Fiona; Provenzano, Elena; Brook, Mark; Morris, Lorna; Gazinska, Patrycja; Johnson, Nicola et al. (2014-12-04)
    • 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. (2015-06-11)
    • 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 ...
    • Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study 

      Brouckaert, Olivier; Rudolph, Anja; Laenen, Annouschka; Keeman, Renske; Bolla, Manjeet K; Wang, Qin; Soubry, Adelheid et al. (2017-11-07)
      Abstract Background Previous studies have shown that reproductive factors are differentially associated with breast cancer (BC) risk by subtypes. The aim of this study was to ...
    • Research data supporting "Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer" 

      Candido do Reis, Francisco J.; Lynn, Stuart; Ali, H. Raza; Eccles, Diana; Hanby, Andrew; Provenzano, Elena; Caldas, Carlos et al. (2015-05-08)