Now showing items 1-19 of 19

    • Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the Breast Cancer Association Consortium: a combined case-control study 

      Milne, Roger L; Gaudet, Mia M; Spurdle, Amanda B; Fasching, Peter A; Couch, Fergus J; Benitez, Javier; Arias, Perez Jose Ignacio et al. (2010-12-31)
      Abstract Introduction Several common breast cancer genetic susceptibility variants have recently been identified. We aimed to determine how these variants combine with a subset of other known risk factors to influence ...
    • Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk 

      Carvajal-Carmona, Luis G; O’Mara, Tracy A; Painter, Jodie N; Lose, Felicity A; Dennis, Joe; Michailidou, Kyriaki; Tyrer, Jonathan P et al. (Springer Berlin Heidelberg, 2014-12-09)
      Several studies have reported associations between multiple cancer types and single-nucleotide polymorphisms (SNPs) on chromosome 5p15, which harbours TERT and CLPTM1L, but no such association has been reported with ...
    • Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium 

      Milne, Roger L; Burwinkel, Barbara; Michailidou, Kyriaki; Arias-Perez, Jose-Ignacio; Zamora, M Pilar; Menéndez-Rodríguez, Primitiva; Hardisson, David et al. (Oxford University Press, 2014-07-04)
      Candidate variant association studies have been largely unsuccessful in identifying common breast cancer susceptibility variants, although most studies have been underpowered to detect associations of a realistic magnitude ...
    • Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer 

      O'Mara, Tracy A; Glubb, Dylan M; Painter, Jodie N; Cheng, Timothy; Dennis, Joe; Australian, National Endometrial Cancer Study Group (ANECS); Attia, John et al. (Society for Endocrinology, 2015-08-30)
      Excessive exposure to estrogen is a well-established risk factor for endometrial cancer (EC), particularly for cancers of endometrioid histology. The physiological function of estrogen is primarily mediated by estrogen ...
    • CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. 

      Thompson, Deborah Jane; O’Mara, Tracy A; Glubb, Dylan M; Painter, Jodie N; Cheng, Timothy; Folkerd, Elizabeth; Doody, Deborah et al. (Bioscientifica, 2015-11-16)
      Candidate gene studies have reported CYP19A1 variants to be associated with endometrial cancer and with estradiol concentrations. We analysed 2,937 SNPs in 6,608 endometrial cancer cases and 37,925 controls and report the ...
    • Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation 

      Ghoussaini, Maya; Edwards, Stacey L; Michailidou, Kyriaki; Nord, Silje; Cowper-Sal•lari, Richard; Desai, Kinjal; Kar, Siddhartha et al. (NPG, 2014-09-23)
      GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine-mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the “iCOGS” genotyping ...
    • Fine scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1 

      Glubb, Dylan M; Maranian, Mel J; Michailidou, Kyriaki; Pooley, Karen Anne; Meyer, Kerstin Barbara; Kar, Siddhartha; Carlebur, Saskia et al.
      Genome Wide Association Studies (GWAS) revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analysed 909 ...
    • Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk 

      Painter, Jodie N; O’Mara, Tracy A; Batra, Jyotsna; Cheng, Timothy; Lose, Felicity A; Dennis, Joe; Michailidou, Kyriaki et al. (Oxford Journals, 2014-11-06)
      Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or ...
    • Five endometrial cancer risk loci identified through genome-wide association analysis 

      Cheng, Timothy HT; Thompson, Deborah Jane; O’Mara, Tracy A; Painter, Jodie N; Glubb, Dylan M; Flach, Susanne; Lewis, Annabelle et al. (Nature Publishing Group, 2016-05-02)
      We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation ...
    • Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. 

      Painter, Jodie N; O'Mara, Tracy A; Morris, Andrew P; Cheng, Timothy HT; Gorman, Maggie; Martin, Lynn; Hodson, Shirley et al. (Wiley, 2018-05)
      Epidemiological, biological and molecular data suggest links between endometriosis and endometrial cancer, with recent epidemiological studies providing evidence for an association between a previous diagnosis of endometriosis ...
    • Genetic risk score Mendelian randomization shows obesity measured as body mass index, but not waist:hip ratio, is causal for endometrial cancer 

      Painter, Jodie N; O’Mara, Tracy A; Marquart, Louise; Webb, Penelope M; for, the AOCS Group; Attia, John; Medland, Sarah E et al. (American Association for Cancer Research, 2016-08-22)
      $\textbf{Background:}$ The strongest known risk factor for endometrial cancer (EC) is obesity. To determine whether single nucleotide polymorphisms (SNPs) associated with increased body mass index (BMI) or waist-hip ratio ...
    • Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types 

      Kar, Siddhartha P; Beesley, Jonathan; Amin, Al Olama Ali; Michailidou, Kyriaki; Tyrer, Jonathan; Kote-Jarai, ZSofia; Lawrenson, Kate et al. (American Association for Cancer Research, 2016-07-17)
      Breast, ovarian, and prostate cancers are hormone-related and may have a shared genetic basis, but this has not been investigated systematically by genome-wide association (GWA) studies. Meta-analyses combining the largest ...
    • Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer 

      French, Juliet D; Johnatty, Sharon E; Lu, Yi; Beesley, Jonathan; Gao, Bo; Kalimutho, Murugan; Henderson, Michelle J et al. (Impact Journals, 2016-01-31)
      Women with epithelial ovarian cancer (EOC) are usually treated with platinum/taxane therapy after cytoreductive surgery but there is considerable inter-individual variation in response. To identify germline single-nucleotide ...
    • Identification and characterisation of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk 

      Lin, Wei-Yu; Camp, Nicola J; Ghoussaini, Maya; Beesley, Jonathan; Michailidou, Kyriaki; Hopper, John L; Apicella, Carmel et al. (Oxford University Press, 2014-08-28)
      Previous studies have suggested that polymorphisms in CASP8 on chromosome 2 are associated with breast cancer risk. To clarify the role of CASP8 in breast cancer susceptibility we carried out dense genotyping of this region ...
    • Identification of four novel susceptibility loci for estrogen receptor negative breast cancer 

      Couch, Fergus J; Kuchenbaecker, Karoline B; Michailidou, Kyriaki; Mendoza-Fandino, Gustavo A; Nord, Silje; Lilyquist, Janna; Olswold, Curtis et al. (Nature Publishing Group, 2016)
      Common variants in 94 loci have been associated with breast cancer including 15 loci with genome wide significant associations (P<5x10-8) with estrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer ...
    • 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 ...
    • Identification of six new susceptibility loci for invasive epithelial ovarian cancer 

      Kuchenbaecker, Karoline Bernhardine; 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 ...
    • 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 ...
    • 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. (Elsevier, 2015-06-11)
      Genome-wide association studies have identified SNPs near ZNF365 at 10q21.2 that are associated with both breast cancer risk and mammographic density. To identify the most likely causal SNPs, we fine mapped the association ...