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Volumn 22, Issue 5, 2015, Pages 851-861

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

(69)  O'Mara, Tracy A a   Glubb, Dylan M a   Painter, Jodie N a   Cheng, Timothy b   Dennis, Joe c   Attia, John d,e   Holliday, Elizabeth G d,e   McEvoy, Mark e   Scott, Rodney J d,f,g,h   Ashton, Katie d,g,h   Proietto, Tony e   Otton, Geoffrey e   Shah, Mitul i   Ahmed, Shahana i   Healey, Catherine S i   Gorman, Maggie b   Martin, Lynn b   Hodgson, Shirley j   Fasching, Peter A k,l   Hein, Alexander l   more..


Author keywords

Endometrial cancer; ESR1; Fine mapping analysis; Single nucleotide polymorphisms

Indexed keywords

ARTICLE; BIOINFORMATICS; BREAST CANCER; CANCER RISK; CONTROLLED STUDY; ENDOMETRIUM CANCER; ESR1 GENE; FEMALE; GENE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE TARGETING; GENETIC ANALYSIS; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; PROMOTER REGION; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; BIOLOGY; BREAST TUMOR; CASE CONTROL STUDY; COMPARATIVE STUDY; ENDOMETRIUM TUMOR; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; META ANALYSIS (TOPIC); PROGNOSIS; RISK FACTOR;

EID: 84942112645     PISSN: 13510088     EISSN: 14796821     Source Type: Journal    
DOI: 10.1530/ERC-15-0319     Document Type: Article
Times cited : (24)

References (55)
  • 3
    • 34447324105 scopus 로고    scopus 로고
    • GenABEL: An R library for genome-wide association analysis
    • Aulchenko YS, Ripke S, Isaacs A & van Duijn CM 2007 GenABEL: an R library for genome-wide association analysis. Bioinformatics 23 1294-1296. (doi:10.1093/bioinformatics/btm108)
    • (2007) Bioinformatics , vol.23 , pp. 1294-1296
    • Aulchenko, Y.S.1    Ripke, S.2    Isaacs, A.3    Van Duijn, C.M.4
  • 4
    • 84875699597 scopus 로고    scopus 로고
    • ICOGS collection provides a collaborative model
    • Bahcall OG 2013 iCOGS collection provides a collaborative model. Foreword. Nature Genetics 45 343. (doi:10.1038/ng.2592)
    • (2013) Foreword. Nature Genetics , vol.45 , pp. 343
    • Bahcall, O.G.1
  • 7
    • 84925483160 scopus 로고    scopus 로고
    • Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk
    • Carvajal-Carmona LG, O'Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, Tyrer JP, Ahmed S, Ferguson K, Healey CS et al. 2015 Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. Human Genetics 134 231-245. (doi:10. 1007/s00439-014-1515-4)
    • (2015) Human Genetics , vol.134 , pp. 231-245
    • Carvajal-Carmona, L.G.1    O'Mara, T.A.2    Painter, J.N.3    Lose, F.A.4    Dennis, J.5    Michailidou, K.6    Tyrer, J.P.7    Ahmed, S.8    Ferguson, K.9    Healey, C.S.10
  • 12
    • 84865790047 scopus 로고    scopus 로고
    • An integrated encyclopedia of DNA elements in the human genome
    • Encode Project Consortium
    • Encode Project Consortium, Bernstein BE, Birney E, Dunham I, Green ED, Gunter C & SnyderM2012 An integrated encyclopedia of DNA elements in the human genome. Nature 489 57-74. (doi:10.1038/nature11247)
    • (2012) Nature , vol.489 , pp. 57-74
    • Bernstein, B.E.1    Birney, E.2    Dunham, I.3    Green, E.D.4    Gunter, C.5    Snyder, M.6
  • 14
    • 1242329396 scopus 로고    scopus 로고
    • A role for the spectrin superfamily member Syne-1 and kinesin II in cytokinesis
    • Fan J & Beck KA 2004 A role for the spectrin superfamily member Syne-1 and kinesin II in cytokinesis. Journal of Cell Science 117 619-629. (doi:10.1242/jcs.00892)
    • (2004) Journal of Cell Science , vol.117 , pp. 619-629
    • Fan, J.1    Beck, K.A.2
  • 15
    • 78650080329 scopus 로고    scopus 로고
    • Modeling interactions with known risk loci-a Bayesian model averaging approach
    • Ferreira T & Marchini J 2011 Modeling interactions with known risk loci-a Bayesian model averaging approach. Annals of Human Genetics 75 1-9. (doi:10.1111/j.1469-1809.2010.00618.x)
    • (2011) Annals of Human Genetics , vol.75 , pp. 1-9
    • Ferreira, T.1    Marchini, J.2
  • 16
    • 84925937250 scopus 로고    scopus 로고
    • Minimac2: Faster genotype imputation
    • Fuchsberger C, Abecasis GR & Hinds DA 2015 minimac2: faster genotype imputation. Bioinformatics 31 782-784. (doi:10.1093/bioinformatics/btu704)
    • (2015) Bioinformatics , vol.31 , pp. 782-784
    • Fuchsberger, C.1    Abecasis, G.R.2    Hinds, D.A.3
  • 21
    • 0037098199 scopus 로고    scopus 로고
    • Quantifying heterogeneity in a metaanalysis
    • Higgins JP & Thompson SG 2002 Quantifying heterogeneity in a metaanalysis. Statistics in Medicine 21 1539-1558. (doi:10.1002/sim.1186)
    • (2002) Statistics in Medicine , vol.21 , pp. 1539-1558
    • Higgins, J.P.1    Thompson, S.G.2
  • 23
    • 67651222400 scopus 로고    scopus 로고
    • A flexible and accurate genotype imputation method for the next generation of genome-wide association studies
    • Howie BN, Donnelly P & Marchini J 2009 A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genetics 5 e1000529. (doi:10.1371/journal.pgen. 1000529)
    • (2009) PLoS Genetics , vol.5 , pp. e1000529
    • Howie, B.N.1    Donnelly, P.2    Marchini, J.3
  • 24
    • 84864417548 scopus 로고    scopus 로고
    • Fast and accurate genotype imputation in genome-wide association studies through pre-phasing
    • Howie B, Fuchsberger C, Stephens M, Marchini J & Abecasis GR 2012 Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nature Genetics 44 955-959. (doi:10.1038/ng.2354)
    • (2012) Nature Genetics , vol.44 , pp. 955-959
    • Howie, B.1    Fuchsberger, C.2    Stephens, M.3    Marchini, J.4    Abecasis, G.R.5
  • 25
    • 0141955809 scopus 로고    scopus 로고
    • Association of estrogen receptor a and b3-adrenergic receptor polymorphisms with endometrial cancer
    • Iwamoto I, Fujino T, Douchi T & Nagata Y 2003 Association of estrogen receptor a and b3-adrenergic receptor polymorphisms with endometrial cancer. Obstetrics and Gynecology 102 506-511. (doi:10.1016/S0029-7844(03)0578-7)
    • (2003) Obstetrics and Gynecology , vol.102 , pp. 506-511
    • Iwamoto, I.1    Fujino, T.2    Douchi, T.3    Nagata, Y.4
  • 27
    • 0038670783 scopus 로고    scopus 로고
    • Frequent hypermethylation of MLH1 promoter in normal endometrium of patients with endometrial cancers
    • Kanaya T, Kyo S, Maida Y, Yatabe N, Tanaka M, Nakamura M & Inoue M 2003 Frequent hypermethylation of MLH1 promoter in normal endometrium of patients with endometrial cancers. Oncogene 22 2352-2360. (doi:10.1038/sj.onc.1206365)
    • (2003) Oncogene , vol.22 , pp. 2352-2360
    • Kanaya, T.1    Kyo, S.2    Maida, Y.3    Yatabe, N.4    Tanaka, M.5    Nakamura, M.6    Inoue, M.7
  • 28
    • 0023857383 scopus 로고
    • The dose-effect relationship between 'unopposed' oestrogens and endometrial mitotic rate: Its central role in explaining and predicting endometrial cancer risk
    • Key TJ & Pike MC 1988 The dose-effect relationship between 'unopposed' oestrogens and endometrial mitotic rate: its central role in explaining and predicting endometrial cancer risk. British Journal of Cancer 57 205-212. (doi:10.1038/bjc.1988.44)
    • (1988) British Journal of Cancer , vol.57 , pp. 205-212
    • Key, T.J.1    Pike, M.C.2
  • 29
    • 84898985349 scopus 로고    scopus 로고
    • Systematic discovery and characterization of regulatory motifs in ENCODE TF binding experiments
    • Kheradpour P & KellisM2014 Systematic discovery and characterization of regulatory motifs in ENCODE TF binding experiments. Nucleic Acids Research 42 2976-2987. (doi:10.1093/nar/gkt1249)
    • (2014) Nucleic Acids Research , vol.42 , pp. 2976-2987
    • Kheradpour, P.1    Kellis, M.2
  • 32
    • 78649508578 scopus 로고    scopus 로고
    • Mach: Using sequence and genotype data to estimate haplotypes and unobserved genotypes
    • Li Y, Willer CJ, Ding J, Scheet P & Abecasis GR 2010 MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genetic Epidemiology 34 816-834. (doi:10.1002/gepi.20533)
    • (2010) Genetic Epidemiology , vol.34 , pp. 816-834
    • Li, Y.1    Willer, C.J.2    Ding, J.3    Scheet, P.4    Abecasis, G.R.5
  • 36
    • 77956513142 scopus 로고    scopus 로고
    • Is-rSNP: A novel technique for in silico regulatory SNP detection
    • Macintyre G, Bailey J, Haviv I & Kowalczyk A 2010 is-rSNP: a novel technique for in silico regulatory SNP detection. Bioinformatics 26 i524-i530. (doi:10.1093/bioinformatics/btq378)
    • (2010) Bioinformatics , vol.26 , pp. i524-i530
    • Macintyre, G.1    Bailey, J.2    Haviv, I.3    Kowalczyk, A.4
  • 37
    • 77953808087 scopus 로고    scopus 로고
    • Genotype imputation for genome-wide association studies
    • Marchini J & Howie B 2010 Genotype imputation for genome-wide association studies. Nature Reviews. Genetics 11 499-511. (doi:10.1038/nrg2796)
    • (2010) Nature Reviews. Genetics , vol.11 , pp. 499-511
    • Marchini, J.1    Howie, B.2
  • 47
    • 84900801871 scopus 로고    scopus 로고
    • Nesprin-1 role in DNA damage response
    • Sur I, Neumann S & Noegel AA 2014 Nesprin-1 role in DNA damage response. Nucleus 5 173-191. (doi:10.4161/nucl.29023)
    • (2014) Nucleus , vol.5 , pp. 173-191
    • Sur, I.1    Neumann, S.2    Noegel, A.A.3
  • 50
    • 84858779229 scopus 로고    scopus 로고
    • HaploReg: A resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants
    • Ward LD & Kellis M 2012 HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants. Nucleic Acids Research 40 D930-D934. (doi:10.1093/nar/gkr917)
    • (2012) Nucleic Acids Research , vol.40 , pp. D930-D934
    • Ward, L.D.1    Kellis, M.2


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