Five endometrial cancer risk loci identified through genome-wide association analysis

Hui Zhao | Mark McEvoy | Julian Peto | Kyriaki Michailidou | Rodney J Scott | Kamila Czene | Alfons Meindl | Thilo Dörk | Barbara Burwinkel | Tao Liu | John L Hopper | Hermann Brenner | Nicholas G Martin | Vessela N Kristensen | Joe Dennis | Per Hall | John Attia | Manjeet K Bolla | Angela Cox | Peter A Fasching | Annika Lindblom | Hatef Darabi | Arif B Ekici | Matthias W Beckmann | Ian Tomlinson | Qin Wang | Alison M Dunning | Mitul Shah | Hiltrud Brauch | Graham G Giles | Jenny Chang-Claude | Diether Lambrechts | Paul D P Pharoah | Fergus J Couch | Ellen L Goode | Brooke L Fridley | Alexander Hein | Douglas F Easton | Stacey J Winham | Peter Hillemanns | Dale R Nyholt | Elizabeth G Holliday | Claire Palles | Emma Tham | Shun H Yip | Maggie Gorman | M. Beckmann | P. Fasching | Jingmei Li | K. Czene | P. Hall | A. Hein | F. Couch | H. Brenner | J. Chang-Claude | B. Fridley | E. Goode | N. Martin | G. Giles | J. Hopper | A. Spurdle | T. Dörk | A. Cox | D. Easton | R. Scott | P. Pharoah | D. Lambrechts | J. Peto | G. Montgomery | R. Houlston | H. Brauch | V. Kristensen | P. Hillemanns | D. Nyholt | A. Dunning | Deborah J. Thompson | Shahana Ahmed | C. Healey | M. Shah | J. Cunningham | A. Lindblom | K. Michailidou | J. Dennis | M. Bolla | Qin Wang | A. Meindl | B. Burwinkel | I. Tomlinson | A. Ekici | A. Swerdlow | J. Tyrer | H. Darabi | S. Edwards | J. Attia | E. Holliday | A. Henders | M. McEvoy | F. Amant | J. French | I. Runnebaum | S. Hodgson | J. Painter | K. Ashton | G. Otton | J. Trovik | H. Salvesen | M. Mints | Lynn Martin | M. Gorman | M. Dunlop | Junwen Wang | S. Dowdy | S. Winham | P. Webb | Mulin Jun Li | T. O’Mara | T. Njølstad | T. Proietto | Hui Zhao | Dylan M Glubb | A. Lewis | M. Dürst | C. Palles | Annabelle Lewis | Amanda B Spurdle | Richard Houlston | Jingmei Li | Stacey L Edwards | Jone Trovik | Julie M Cunningham | Grant W Montgomery | Shirley Hodgson | Anthony J Swerdlow | Penelope M Webb | Deborah J Thompson | Helga B Salvesen | Frederic Amant | D. Church | Lynn Martin | Catherine S Healey | Shahana Ahmed | E. Tham | Timothy H. T. Cheng | Susanne Flach | Luke Freeman-Mills | S. Schrauwen | J. Depreeuw | H. Werner | Tao Liu | Chibcha Consortium | Shun H. Yip | Matthias Dürst | Junwen Wang | Jonathan P Tyrer | Anjali K Henders | Juliet D French | Ingo Runnebaum | Jodie N Painter | David Church | Sean C Dowdy | Jeroen Depreeuw | Timothy HT Cheng | Tracy A O’Mara | Susanne Flach | Luke Freeman-Mills | Stefanie Schrauwen | Tormund S Njølstad | Henrica MJ Werner | Katie Ashton | Geoffrey Otton | Tony Proietto | Miriam Mints | CHIBCHA Consortium | Mulin Jun Li | Malcolm Dunlop | Tony Proietto | H. M. Werner | P. Hall | Hatef Darabi | N. Martin | N. Martin | R. Scott | N. Martin | R. Scott | Qin Wang | Jeroen Depreeuw | R. Scott | Henrica M. J. Werner

[1]  M. Beckmann,et al.  CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer , 2015, Endocrine-related cancer.

[2]  Aung Ko Win,et al.  Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1 , 2015, Scientific Reports.

[3]  M. Beckmann,et al.  Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. , 2015, Endocrine-related cancer.

[4]  G. von Heijne,et al.  Tissue-based map of the human proteome , 2015, Science.

[5]  Aung Ko Win,et al.  Family History and Risk of Endometrial Cancer: A Systematic Review and Meta-analysis , 2015, Obstetrics and gynecology.

[6]  M. Beckmann,et al.  Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk , 2014, Human molecular genetics.

[7]  Neva C. Durand,et al.  A 3D Map of the Human Genome at Kilobase Resolution Reveals Principles of Chromatin Looping , 2014, Cell.

[8]  M. Beckmann,et al.  Candidate locus analysis of the TERT–CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk , 2014, Human Genetics.

[9]  Jaana M. Hartikainen,et al.  Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation , 2014, Nature Communications.

[10]  Gail Clement,et al.  A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans , 2014, Nature Communications.

[11]  Aung Ko Win,et al.  Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis. , 2014, Human molecular genetics.

[12]  H. Stunnenberg,et al.  A Polymorphic Enhancer near GREM1 Influences Bowel Cancer Risk through Differential CDX2 and TCF7L2 Binding , 2014, Cell reports.

[13]  Xiaoman Li,et al.  H3K4me2 reliably defines transcription factor binding regions in different cells. , 2014, Genomics.

[14]  A. Jemal,et al.  Cancer statistics, 2014 , 2014, CA: a cancer journal for clinicians.

[15]  M. Lupien,et al.  Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits , 2014, Genome research.

[16]  J. She,et al.  Mycophenolic Acid Inhibits Migration and Invasion of Gastric Cancer Cells via Multiple Molecular Pathways , 2013, PloS one.

[17]  R. Young,et al.  Super-Enhancers in the Control of Cell Identity and Disease , 2013, Cell.

[18]  C. Friedenreich,et al.  Genome-wide association study of endometrial cancer in E2C2 , 2013, Human Genetics.

[19]  Peter Donnelly,et al.  Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas , 2013, Nature Genetics.

[20]  Ellen T. Gelfand,et al.  The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.

[21]  Steven J. M. Jones,et al.  Integrated genomic characterization of endometrial carcinoma , 2013, Nature.

[22]  D. Evans,et al.  Cancer risk in Lynch Syndrome , 2013, Familial Cancer.

[23]  John S Witte,et al.  Turning of COGS moves forward findings for hormonally mediated cancers , 2013, Nature Genetics.

[24]  Jaana M. Hartikainen,et al.  Large-scale genotyping identifies 41 new loci associated with breast cancer risk , 2013, Nature Genetics.

[25]  J. Ferlay,et al.  Cancer incidence and mortality patterns in Europe: estimates for 40 countries in 2012. , 2013, European journal of cancer.

[26]  Brooke L. Fridley,et al.  GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer , 2013, Nature Genetics.

[27]  I. Tomlinson,et al.  DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer , 2013, Human molecular genetics.

[28]  P. Jiang,et al.  Siva1 inhibits p53 function by acting as an ARF E3 ubiquitin ligase , 2013, Nature Communications.

[29]  Peter Kraft,et al.  Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array , 2013, Nature Genetics.

[30]  O. Delaneau,et al.  Supplementary Information for ‘ Improved whole chromosome phasing for disease and population genetic studies ’ , 2012 .

[31]  R. Coleman,et al.  The PI3K/AKT/mTOR Pathway as a Therapeutic Target in Endometrial Cancer , 2012, Clinical Cancer Research.

[32]  Christopher Korch,et al.  DNA profiling analysis of endometrial and ovarian cell lines reveals misidentification, redundancy and contamination. , 2012, Gynecologic oncology.

[33]  Eurie L. Hong,et al.  Annotation of functional variation in personal genomes using RegulomeDB , 2012, Genome research.

[34]  N. Caplen,et al.  The 8q24 Gene Desert: An Oasis of Non-Coding Transcriptional Activity , 2012, Front. Gene..

[35]  Manolis Kellis,et al.  HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants , 2011, Nucleic Acids Res..

[36]  J. Marchini,et al.  Genotype Imputation with Thousands of Genomes , 2011, G3: Genes | Genomes | Genetics.

[37]  P. Jiang,et al.  Siva1 suppresses epithelial–mesenchymal transition and metastasis of tumor cells by inhibiting stathmin and stabilizing microtubules , 2011, Proceedings of the National Academy of Sciences.

[38]  M. Beckmann,et al.  Genome-wide association study identifies a common variant associated with risk of endometrial cancer , 2011, Nature Genetics.

[39]  B. Spencer‐Dene,et al.  FBXW7 mutations typically found in human cancers are distinct from null alleles and disrupt lung development , 2011, The Journal of pathology.

[40]  P. Visscher,et al.  Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis , 2010, Nature Genetics.

[41]  J. Duke,et al.  Cohort profile: The Hunter Community Study. , 2010, International journal of epidemiology.

[42]  A. Whittemore,et al.  A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24 , 2010, Nature Genetics.

[43]  William Wheeler,et al.  A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci , 2010, Nature Genetics.

[44]  Michael Boehnke,et al.  LocusZoom: regional visualization of genome-wide association scan results , 2010, Bioinform..

[45]  M. Velarde,et al.  The emerging role of Krüppel-like factors in endocrine-responsive cancers of female reproductive tissues. , 2010, The Journal of endocrinology.

[46]  B. Shalmon,et al.  AKT1 pleckstrin homology domain E17K activating mutation in endometrial carcinoma. , 2010, Gynecologic oncology.

[47]  Reedik Mägi,et al.  GWAMA: software for genome-wide association meta-analysis , 2010, BMC Bioinformatics.

[48]  L. Akslen,et al.  Deoxyribonucleic acid ploidy in endometrial carcinoma: a reproducible and valid prognostic marker in a routine diagnostic setting. , 2009, American journal of obstetrics and gynecology.

[49]  Ali Amin Al Olama,et al.  Identification of seven new prostate cancer susceptibility loci through a genome-wide association study , 2009, Nature Genetics.

[50]  Kari Stefansson,et al.  Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility , 2009, Nature Genetics.

[51]  P. Jiang,et al.  Suppression of p53 activity by Siva1 , 2009, Cell Death and Differentiation.

[52]  H. Aburatani,et al.  The oncogenic mutation in the pleckstrin homology domain of AKT1 in endometrial carcinomas , 2009, British Journal of Cancer.

[53]  I. Jonassen,et al.  Integrated genomic profiling of endometrial carcinoma associates aggressive tumors with indicators of PI3 kinase activation , 2009, Proceedings of the National Academy of Sciences.

[54]  M. García-Closas,et al.  Two Estrogen-Related Variants in CYP19A1 and Endometrial Cancer Risk: A Pooled Analysis in the Epidemiology of Endometrial Cancer Consortium , 2009, Cancer Epidemiology Biomarkers & Prevention.

[55]  Tony Fletcher,et al.  Sequence variant on 8q24 confers susceptibility to urinary bladder cancer , 2008, Nature Genetics.

[56]  R. Scott,et al.  The influence of the Cyclin D1 870 G>A polymorphism as an endometrial cancer risk factor , 2008, BMC Cancer.

[57]  I. Deary,et al.  Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21 , 2008, Nature Genetics.

[58]  S A Forbes,et al.  The Catalogue of Somatic Mutations in Cancer (COSMIC) , 2008, Current protocols in human genetics.

[59]  V. Yang,et al.  Krüppel-like factor 5 mediates cellular transformation during oncogenic KRAS-induced intestinal tumorigenesis. , 2008, Gastroenterology.

[60]  Michael Inouye,et al.  A genotype calling algorithm for the Illumina BeadArray platform , 2007, Bioinform..

[61]  Manuel A. R. Ferreira,et al.  PLINK: a tool set for whole-genome association and population-based linkage analyses. , 2007, American journal of human genetics.

[62]  Oliver Sieber,et al.  A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21 , 2007, Nature Genetics.

[63]  M. Katoh,et al.  Integrative genomic analyses on HES/HEY family: Notch-independent HES1, HES3 transcription in undifferentiated ES cells, and Notch-dependent HES1, HES5, HEY1, HEY2, HEYL transcription in fetal tissues, adult tissues, or cancer. , 2007, International journal of oncology.

[64]  P. Donnelly,et al.  A new multipoint method for genome-wide association studies by imputation of genotypes , 2007, Nature Genetics.

[65]  Lester L. Peters,et al.  Genome-wide association study identifies novel breast cancer susceptibility loci , 2007, Nature.

[66]  William Stafford Noble,et al.  Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project , 2007, Nature.

[67]  Simon C. Potter,et al.  Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls , 2007, Nature.

[68]  V. Iyer,et al.  FAIRE (Formaldehyde-Assisted Isolation of Regulatory Elements) isolates active regulatory elements from human chromatin. , 2007, Genome research.

[69]  Yurii S. Aulchenko,et al.  BIOINFORMATICS APPLICATIONS NOTE doi:10.1093/bioinformatics/btm108 Genetics and population analysis GenABEL: an R library for genome-wide association analysis , 2022 .

[70]  P. Goodfellow,et al.  Excess of early onset multiple myeloma in endometrial cancer probands and their relatives suggests common susceptibility. , 2007, Gynecologic oncology.

[71]  D. Clayton,et al.  An R Package for Analysis of Whole-Genome Association Studies , 2007, Human Heredity.

[72]  D. Reich,et al.  Principal components analysis corrects for stratification in genome-wide association studies , 2006, Nature Genetics.

[73]  Tania B. Huedo-Medina,et al.  Assessing heterogeneity in meta-analysis: Q statistic or I2 index? , 2006, Psychological methods.

[74]  C. Power,et al.  Cohort profile: 1958 British birth cohort (National Child Development Study). , 2006, International journal of epidemiology.

[75]  B.,et al.  A Population-based Study of Endometrial Cancer and Familial Risk in Younger Women , 2005 .

[76]  S. Thompson,et al.  Quantifying heterogeneity in a meta‐analysis , 2002, Statistics in medicine.

[77]  Lewis C Cantley,et al.  The phosphoinositide 3-kinase pathway. , 2002, Science.

[78]  W. Shao,et al.  ERAP140, a Conserved Tissue-Specific Nuclear Receptor Coactivator , 2002, Molecular and Cellular Biology.

[79]  Thomas D. Schmittgen,et al.  Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. , 2001, Methods.

[80]  R. Gentleman,et al.  Global expression changes of constitutive and hormonally regulated genes during endometrial neoplastic transformation. , 2001, Gynecologic oncology.

[81]  X. Wang,et al.  Isolation and characterization of a gene encoding human Kruppel-like factor 5 (IKLF): binding to the CAAT/GT box of the mouse lactoferrin gene promoter. , 1999, Nucleic acids research.

[82]  C. de Haro,et al.  Characterization of a mammalian homolog of the GCN2 eukaryotic initiation factor 2alpha kinase. , 1999, European journal of biochemistry.

[83]  J F Aitken,et al.  A major quantitative-trait locus for mole density is linked to the familial melanoma gene CDKN2A: a maximum-likelihood combined linkage and association analysis in twins and their sibs. , 1999, American journal of human genetics.

[84]  I Persson,et al.  Risk of endometrial cancer following estrogen replacement with and without progestins. , 1999, Journal of the National Cancer Institute.

[85]  J. Aitken,et al.  Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of adolescent twins , 1999, Genetic epidemiology.

[86]  S. Gruber,et al.  A population-based study of endometrial cancer and familial risk in younger women. Cancer and Steroid Hormone Study Group. , 1996, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[87]  N. Dubrawsky.  Cancer statistics , 1989, CA: a cancer journal for clinicians.