Now showing items 1-13 of 13

    • Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers 

      Kuchenbaecker, Karoline Bernhardine; Neuhausen, Susan L; Robson, Mark; Barrowdale, Daniel; McGuffog, Lesley; Mulligan, Anna Marie; Andrulis, Irene L et al. (BioMed Central, 2014-12-31)
      Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are ...
    • Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. 

      Mulligan, Anna Marie; Couch, Fergus J; Barrowdale, Daniel; Domchek, Susan M; Eccles, Diana; Nevanlinna, Heli; Ramus, Susan J et al. (2011-11-02)
      Abstract Introduction Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently ...
    • Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women. 

      Patel, Shreeya; Legood, Rosa; Evans, D Gareth; Turnbull, Clare; Antoniou, Antonis; Menon, Usha; Jacobs, Ian et al. (Elsevier, 2018-04)
      Population-based BRCA1/BRCA2 founder-mutation testing has been demonstrated as cost-effective compared to family-history(FH) based testing in Ashkenazi Jewish(AJ) women. However, only one of the three AJ BRCA1/BRCA2 ...
    • Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers 

      Maia, Ana Teresa; Antoniou, Antonis; O'Reilly, Martin; Samarajiwa, Shamith Anusha; Dunning, Mark James; Kartsonaki, Christiana; Chin, Suet Feung et al. (2012-04-18)
      Abstract Introduction Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type ...
    • 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 ...
    • Exploring the link between MORF4L1 and risk of breast cancer 

      Martrat, Griselda; Maxwell, Christopher A; Tominaga, Emiko; Porta, Montserrat; Bonifaci, Nuria; Gomez-Baldo, Laia; Bogliolo, Massimo et al. (2011-04-05)
      Abstract Introduction Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its ...
    • Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ Mutation Carriers 

      Vigorito, Elena; Kuchenbaecker, Karoline B; Beesley, Jonathan; Adlard, Julian; Agnarsson, Bjarni A; Andrulis, Irene L; Arun, Banu K et al. (Public Library of Science, 2016-07-27)
      Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in $\small \textit{BRCA1}$ and $\small \textit{BRCA2}$ mutation ...
    • Functional Mechanisms Underlying Pleiotropic Risk Alleles at the 19p13.1 Breast-Ovarian Cancer Susceptibility Locus 

      Lawrenson, Kate; Kar, Siddhartha; McCue, Karen; Kuchenbaeker, Karoline; Michailidou, Kyriaki; Tyrer, Jonathan; Beesley, Jonathan et al. (Nature Publishing Group, 2016)
      A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. We analyzed 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identified ...
    • Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. 

      Copson, Ellen R; Maishman, Tom C; Tapper, Will J; Cutress, Ramsey I; Greville-Heygate, Stephanie; Altman, Douglas G; Eccles, Bryony et al. (Elsevier, 2018-02)
      Retrospective studies provide conflicting interpretations of the effect of inherited genetic factors on breast cancer prognosis. The primary aim of this study was to determine the impact of a germline BRCA1/2 mutation on ...
    • Identification of Novel Genetic Markers of Breast Cancer Survival 

      Guo, Qi; Schmidt, Marjanka K; Kraft, Peter; Canisius, Sander; Chen, Constance; Khan, Sofia; Tyrer, Jonathan et al. (Oxford Journals, 2015-04-18)
      Background: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with ...
    • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 

      Rebbeck, Timothy R; Friebel, Tara M; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith et al. (Wiley-Blackwell, 2018-05)
      The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on Caucasians in Europe and North America. The Consortium of Investigators ...
    • Parity and breast cancer risk among BRCA1and BRCA2mutation carriers 

      Antoniou, Antonis; Shenton, Andrew; Maher, Eamonn Richard; Watson, Emma; Woodward, Emma; Lalloo, Fiona; Easton, Douglas Frederick et al. (2006-12-22)
      Abstract Introduction Increasing parity and age at first full-term pregnancy are established risk factors for breast cancer in the general population. However, their effects among BRCA1 and BRCA2 mutation carriers is still ...
    • Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study. 

      Girardi, Fabio; Barnes, Daniel Robert; Barrowdale, Daniel; Frost, Debra; Brady, Angela F; Miller, Claire; Henderson, Alex et al. (Wolters Kluwer Health, 2018-03-22)
      Purpose. BRCA1/BRCA2 predictive test negatives are proven non-carriers of a BRCA1/BRCA2 mutation that is carried by their relatives. The risk of developing breast cancer (BC) or epithelial ovarian cancer (EOC) in these ...