Now showing items 2-7 of 7

    • The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population 

      Song, Honglin; Cicek, Mine S.; Dicks, Ed; Harrington, Patricia; Ramus, Susan J.; Cunningham, Julie M.; Fridley, Brooke L. et al. (Oxford University Press, 2014-04-30)
      The aim of this study was to estimate the contribution of deleterious mutations in BRCA1, BRCA2, MLH1, MSH2, MSH6 and PMS2 to invasive epithelial ovarian cancer (EOC) in the population. The coding sequence and splice site ...
    • Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers 

      Walker, Logan C.; Fredericksen, Zachary S.; Wang, Xianshu; Tarrell, Robert; Pankratz, Vernon Shane; Lindor, Noralane M.; Beesley, Jonathan et al. (2010-11-29)
      Abstract Introduction Current attempts to identify genetic modifiers of BRCA1 and BRCA2 associated risk have focused on a candidate gene approach, based on knowledge of gene functions, or the development of large genome-wide ...
    • Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus 

      Horne, Hisani N.; Chung, Charles C.; Zhang, Han; Yu, Kai; Prokunina-Olsson, Ludmila; Michailidou, Kyriaki; Bolla, Manjeet K. et al. (Public Library of Science, 2016-08-24)
      The Cancer Genetic Markers of Susceptibility genome-wide association study (GWAS) originally identified a single nucleotide polymorphism (SNP) rs11249433 at 1p11.2 associated with breast cancer risk. To fine-map this locus, ...
    • Identification of six new susceptibility loci for invasive epithelial ovarian cancer 

      Kuchenbaecker, Karoline B.; Ramus, Susan J.; Tyrer, Jonathan; Lee, Andrew; Shen, Howard C.; Beesley, Jonathan; Lawrenson, Kate et al. (2015-01-12)
      Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high ...
    • Implications of polygenic risk-stratified screening for prostate cancer on overdiagnosis 

      Pashayan, Nora; Duffy, Stephen W.; Neal, David E.; Hamdy, Freddie C.; Donovan, Jenny L.; Martin, Richard M.; Harrington, Patricia et al. (Nature Publishing Group, 2015-01-08)
      Purpose: This study aimed to quantify the probability of overdiagnosis of prostate cancer by polygenic risk. Methods: We calculated the polygenic risk score based on 66 known prostate cancer susceptibility variants ...
    • A risk prediction algorithm for ovarian cancer incorporating BRCA1, BRCA2, common alleles and other familial effects 

      Jervis, Sarah; Song, Honglin; Lee, Andrew; Dicks, Ed; Harrington, Patricia; Baynes, Caroline; Manchanda, Ranjit et al. (BMJ Publishing, 2015-05-29)
      Background: Although BRCA1 and BRCA2 mutations account for only ∼27% of the familial aggregation of ovarian cancer (OvC), no OvC risk prediction model currently exists that considers the effects of BRCA1, BRCA2 and other ...