Now showing items 1-20 of 39

    • 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 a pooled breast cancer series: association with 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. (2015-07-02)
      Abstract 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 ...
    • 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 ...
    • Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry 

      Zhao, Zhiguo; Wen, Wanqing; Michailidou, Kyriaki; Bolla, Manjeet K.; Wang, Qin; Zhang, Ben; Long, Jirong et al. (Springer, 2016-04-06)
      Purpose Type 2 diabetes (T2D) has been reported to be associated with an elevated risk of breast cancer. It is unclear, however, whether this association is due to shared genetic factors. Methods We constructed a ...
    • 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 prediction using a polygenic risk score in the familial setting: a prospective study from the Breast Cancer Family Registry and kConFab 

      Li, Hongyan; Feng, Bingjian; Miron, Alexander; Chen, Xiaoqing; Beesley, Jonathan; Bimeh, Emmanuella; Barrowdale, Daniel et al. (Nature Publishing Group, 2016-05-12)
      Purpose: This study examined the utility of sets of single-nucleotide polymorphisms (SNPs) in familial but non-BRCA-associated breast cancer (BC). Methods: We derived a polygenic risk score (PRS) based on 24 known ...
    • 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 ...
    • Evidence that the 5p12 variant rs10941679 confers susceptibility to estrogen receptor positive breast cancer through FGF10 and MRPS30 regulation 

      Ghoussaini, Maya; French, Juliet D.; Michailidou, Kyriaki; Nord, Silje; Beesley, Jonathan; Canisus, Sander; Hillman, Kristine M. et al. (Elsevier (Cell Press), 2016)
      Genome-wide association studies (GWAS) have revealed increased breast cancer risk associated with multiple genetic variants at 5p12. Here, we report the fine-mapping of this locus using data from 104,660 subjects from 50 ...
    • 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-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, ...
    • 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. ...