Now showing items 1-20 of 24

    • Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC carriers 

      Schmidt, Marjanka K.; Hogervorst, Frans; van Hien, Richard; Cornelissen, Sten; Broeks, Annegien; Adank, Muriel; Meijers, Hanne et al. (American Society of Clinical Oncology, 2016)
      CHEK2*1100delC is a well-established breast cancer risk variant, most prevalent in European populations. However, there are limited data on risk of breast cancer by age and tumor subtype, limiting its usefulness in breast ...
    • Annexin A1 expression in breast cancer: tumor subtypes and prognosis 

      Sobral-Leite, Marcelo; Wesseling, Jelle; Smit, Vincent T. H. B. M.; Nevanlinna, Heli; van Miltenburg, Martine H.; Sanders, Joyce; Hofland, Ingrid et al. (BioMed Central, 2015-06-25)
      Background Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the prognostic value of ANXA1 in breast cancer. The purpose of ...
    • 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 ...
    • Assessing the genetic architecture of epithelial ovarian cancer histological subtypes 

      Cuellar-Partida, Gabriel; Lu, Yi; Dixon, Suzanne C.; Australian Ovarian Cancer Study; Fasching, Peter A.; Hein, Alexander; Burghaus, Stefanie et al. (Springer, 2016-04-13)
      Epithelial ovarian cancer (EOC) is one of the deadliest common cancers. The five most common types of disease are high-grade and low-grade serous, endometrioid, mucinous and clear cell carcinoma. Each of these subtypes ...
    • Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers 

      Kuchenbaecker, Karoline B.; 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 ...
    • Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 

      Dunning, Alison M.; Michailidou, Kyriaki; Kuchenbaecker, Karoline B.; Thompson, Deborah; French, Juliet D.; Beesley, Jonathan; Healey, Catherine S. et al. (Nature Publishing Group, 2016)
      We analysed 3872 common genetic variants across the ESR1 locus (encoding estrogen receptor–alpha) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, ...
    • 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 ...
    • 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 ...
    • Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers 

      Maia, Ana-Teresa; Antoniou, Antonis C.; O'Reilly, Martin; Samarajiwa, Shamith; Dunning, Mark; 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 ...
    • 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 ...
    • 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 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 A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia et al. (Cell/Elsevier, 18/12/2014)
      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 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 A.; Meyer, Kerstin B.; Kar, Siddhartha; Carlebur, Saskia et al. (2015-12-18)
    • Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer 

      Shi, Jiajun; Zhang, Yanfeng; Zheng, Wei; Michailidou, Kyriaki; Ghoussaini, Maya; Bolla, Manjeet K.; Wang, Qin et al. (Wiley, 2016)
      Previous genome-wide association studies among women of European ancestry identified two independent breast cancer susceptibility loci represented by single nucleotide polymorphisms (SNPs) rs13281615 and rs11780156 at 8q24. ...
    • Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk 

      Easton, Douglas F.; Pharoah, Paul D. P.; Antoniou, Antonis C.; Tischkowitz, Marc; Tavtigian, Sean V.; Nathanson, Katherine L.; Devilee, Peter et al. (Massachusetts Medical Society, 2015-06-04)
      Advances in sequencing technology have made multigene testing, or “panel testing,” a practical option when looking for genetic variants that may be associated with a risk of breast cancer. In June 2013, the U.S. Supreme ...
    • Genetic determinants of telomere length and risk of common cancers: a Mendelian randomization study 

      Zhang, Chenan; Doherty, Jennifer A.; Burgess, Stephen; Hung, Rayjean J.; Lindström, Sara; Kraft, Peter; Gong, Jian et al. (Oxford University Press, 2015-07-02)
      Epidemiological studies have reported inconsistent associations between telomere length (TL) and risk for various cancers. These inconsistencies are likely attributable, in part, to biases that arise due to post-diagnostic ...
    • Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. 

      Michailidou, Kyriaki; Beesley, Jonathan; Lindstrom, Sara; Canisius, Sander; Dennis, Joe; Lush, Michael J.; Maranian, Mel J. et al. (NPG, 2015-03-09)
      Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new ...
    • 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 ...