Now showing items 29-43 of 43

    • 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 four novel susceptibility loci for oestrogen 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, 2016-04-27)
      Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10$^{−8}$) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated ...
    • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus 

      Zeng, Chenjie; Guo, Xingyi; Long, Jirong; Kuchenbaecker, Karoline B.; Droit, Arnaud; Michailidou, Kyriaki; Ghoussaini, Maya et al. (BioMed Central, 2016)
      Background Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. Method We performed a ...
    • 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 ...
    • An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression 

      Wyszynski, Asaf; Hong, Chi-Chen; Lam, Kristin; Michailidou, Kyriaki; Lytle, Christian; Yao, Song; Zhang, Yali et al. (Oxford University Press, 2016-07-11)
      Breast cancer is the most diagnosed malignancy and the second leading cause of cancer mortality in females. Previous association studies have identified variants on 2q35 associated with the risk of breast cancer. To identify ...
    • Learning a novel technique to identify possible melanomas: are Australian general practitioners better than their U.K. colleagues? 

      Watson, Tony; Walter, Fiona M.; Wood, Annabel; Morris, Helen C.; Hall, Per; Karner, Simone; Emery, Jon D. (2009-04-30)
      Abstract Background Spectrophotometric intracutaneous analysis (SIAscopy™) is a multispectral imaging technique that is used to identify 'suspicious' (i.e. potentially malignant) pigmented skin lesions for further ...
    • 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 ...
    • Novel associations between common breast cancer susceptibility variants and risk-predicting mammographic density measures 

      Stone, Jennifer; Thompson, Deborah J; dos Santos Silva, Isabel; Scott, Christopher; Tamimi, Rulla M.; Lindstrom, Sara; Kraft, Peter et al. (American Association for Cancer Research, 2015-04-10)
      Mammographic density measures adjusted for age and body mass index (BMI) are heritable predictors of breast cancer risk but few mammographic density-associated genetic variants have been identified. Using data for 10,727 ...
    • 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; 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 ...
    • 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 ...
    • Protocol for the MoleMateTM UK Trial: a randomised controlled trial of the MoleMate system in the management of pigmented skin lesions in primary care [ISRCTN 79932379] 

      Walter, Fiona M.; Morris, Helen C.; Humphrys, Elka; Hall, Per; Kinmonth, Ann Louise; Prevost, A. Toby; Wilson, Edward C. F. et al. (2010-05-11)
      Abstract Background Suspicious pigmented lesions are a common presenting problem in general practice consultations; while the majority are benign a small minority are melanomas. Differentiating melanomas from other pigmented ...
    • 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 ...
    • Volumetric Mammographic Density: Heritability and Association With Breast Cancer Susceptibility Loci 

      Brand, Judith S.; Humphreys, Keith; Thompson, Deborah J.; Li, Jingmei; Eriksson, Mikael; Czene, Kamila (Oxford University Press, 2014-09-15)
      Background: Mammographic density is a strong heritable trait, but data on its genetic component are limited to area-based and qualitative measures. We studied the heritability of volumetric mammographic density ascertained ...