SynthesisNature genetics2016
Five endometrial cancer risk loci identified through genome-wide association analysis.
Open access · bronzeAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 6 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
58citing papers in PubMed, 6 pooled it
6.3field-weighted citation impact, top 3% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
58 citing papers in PubMed, 6 syntheses or guidelines pooled it, 95 citations in OpenAlex.
- Pooled it
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Association between genetic polymorphisms and endometrial cancer risk: a systematic review.Journal of medical genetics · 2020Pooled it
- Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.Nature communications · 2018Pooled it
- Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.Cancer medicine · 2018Pooled it
- Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.Nature genetics · 2017Pooled it
- The triglyceride-glucose index as a measure of insulin resistance and risk of incident endometrial cancer: a prospective analysis in UK Biobank.Journal of gynecologic oncology · 2026Article
- SIVA1 Knockdown Drives Aggressive Phenotypes in Triple-Negative Breast Cancer Cells while Enhancing Paclitaxel Efficacy.ACS omega · 2026Article
- Risk stratification for endometrial cancer: independent and joint effects of polygenic risk score and body mass index in 129,829 UK Biobank participants.BMC medicine · 2026Observational
- GCN2 in Cancer: Molecular Mechanisms to Therapeutic Potential.Current cancer drug targets · 2026Review
- Association between childhood adiposity and gynecologic cancers: a mendelian randomization analysis.BMC women's health · 2025Article
- Independent Effects of Hypothyroidism and Obesity on Endometrial Cancer Risk Revealed by Mendelian Randomisation.Biomedicines · 2025Article
- Minimally Invasive Surgery in Endometrial Cancer: Superior for Low-Risk and Comparable for High-Risk Cases in a 20-Year Cohort Study.Geburtshilfe und Frauenheilkunde · 2025Article
- Genetic Variations in CYP19A1 and SLCO1B1 Genes and Their Association with Endometrial Cancer Risk in the Taiwanese Population: A Case-Control Study.International journal of molecular sciences · 2025Article
- Association ofTurkish journal of obstetrics and gynecology · 2025Article
- A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk.PloS one · 2025Article
- Causal Relationship between Gut Microbiota and Endometrial Cancer: A Two-Sample Mendelian Randomization Study.International journal of medical sciences · 2025Article
- Exploring potential causal genetic variants and genes for endometrial cancer: Open Targets Genetics, Mendelian randomization, and multi-tissue transcriptome-wide association analysis.Translational cancer research · 2024Article
- Common and novel haplotype structures between different types of cancer.Cancer reports (Hoboken, N.J.) · 2024Article
- Multi-trait genome-wide association study identifies a novel endometrial cancer risk locus that associates with testosterone levels.iScience · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
92 authors at 20 institutions in 8 countries.
Timothy Ht Cheng *Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Deborah J Thompson *Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Tracy A O'MaraDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Jodie N PainterDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Dylan M GlubbDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Susanne FlachWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Annabelle LewisWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Juliet D FrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Luke Freeman-MillsWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
David ChurchWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Maggie GormanWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Lynn MartinWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
National Study of Endometrial Cancer Genetics Group (NSECG)
Shirley HodgsonDepartment of Clinical Genetics, St George's, University of London, London, UK.
Penelope M WebbDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Australian National Endometrial Cancer Study Group (ANECS)
John AttiaHunter Medical Research Institute, John Hunter Hospital, Newcastle, NSW, Australia.
Elizabeth G HollidayHunter Medical Research Institute, John Hunter Hospital, Newcastle, NSW, Australia.
Mark McEvoyCentre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, University of Newcastle, NSW, Australia.
Rodney J ScottHunter Medical Research Institute, John Hunter Hospital, Newcastle, NSW, Australia.
Anjali K HendersDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Nicholas G MartinDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Grant W MontgomeryDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Dale R NyholtDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Shahana AhmedCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Catherine S HealeyCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Mitul ShahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Peter A FaschingUniversity of California at Los Angeles, Department of Medicine, Division of Hematology/Oncology, David Geffen School of Medicine, Los Angeles, CA, USA.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Alexander HeinDepartment of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Arif B EkiciInstitute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Hatef DarabiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Jingmei LiDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Thilo DörkHannover Medical School, Gynaecology Research Unit, Hannover, Germany.
Matthias DürstDepartment of Gynaecology, Jena University Hospital - Friedrich Schiller University, Jena, Germany.
Peter HillemannsHannover Medical School, Clinics of Gynaecology and Obstetrics, Hannover, Germany.
Ingo RunnebaumDepartment of Gynaecology, Jena University Hospital - Friedrich Schiller University, Jena, Germany.
Frederic AmantDepartment of Obstetrics and Gynecology, Division of Gynecologic Oncology, University Hospitals, KU Leuven - University of Leuven, Belgium.
Stefanie SchrauwenDepartment of Obstetrics and Gynecology, Division of Gynecologic Oncology, University Hospitals, KU Leuven - University of Leuven, Belgium.
Hui ZhaoVesalius Research Center, VIB, Leuven, Belgium.
Diether LambrechtsVesalius Research Center, VIB, Leuven, Belgium.
Jeroen DepreeuwDepartment of Obstetrics and Gynecology, Division of Gynecologic Oncology, University Hospitals, KU Leuven - University of Leuven, Belgium.
Sean C DowdyDepartment of Obstetrics and Gynecology, Division of Gynecologic Oncology, Mayo Clinic, Rochester, MN, USA.
Ellen L GoodeDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Brooke L FridleyDepartment of Biostatistics, University of Kansas Medical Center, Kansas City, KS, USA.
Stacey J WinhamDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Tormund S NjølstadCentre for Cancerbiomarkers, Department of Clinical Science, The University of Bergen, Norway.
Helga B SalvesenCentre for Cancerbiomarkers, Department of Clinical Science, The University of Bergen, Norway.
Jone TrovikCentre for Cancerbiomarkers, Department of Clinical Science, The University of Bergen, Norway.
Henrica Mj WernerCentre for Cancerbiomarkers, Department of Clinical Science, The University of Bergen, Norway.
Katie AshtonHunter Medical Research Institute, John Hunter Hospital, Newcastle, NSW, Australia.
Geoffrey OttonSchool of Medicine and Public Health, University of Newcastle, Newcastle, NSW, Australia.
Tony ProiettoSchool of Medicine and Public Health, University of Newcastle, Newcastle, NSW, Australia.
Tao LiuDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Miriam MintsDepartment of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Emma ThamDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
RENDOCAS
Chibcha ConsortiumWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Mulin Jun LiCentre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Shun H YipCentre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Junwen WangCentre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Kyriaki MichailidouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jonathan P TyrerCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Malcolm DunlopColon Cancer Genetics Group, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.
Richard HoulstonDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Claire PallesWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Vic, Australia.
AOCS Group
Julian PetoLondon School of Hygiene and Tropical Medicine, London, UK.
Anthony J SwerdlowDivision of Genetics and Epidemiology, Institute of Cancer Research, London, UK.
Barbara BurwinkelMolecular Biology of Breast Cancer, Department of Gynecology and Obstetrics, University of Heidelberg, Heidelberg, Germany.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Alfons MeindlDepartment of Obstetrics and Gynecology, Division of Tumor Genetics, Technical University of Munich, Munich, Germany.
Hiltrud BrauchGerman Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Fergus J CouchDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Graham G GilesCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Vic, Australia.
Vessela N KristensenDepartment of Genetics, Institute for Cancer Research, The Norwegian Radium Hospital, Oslo, Norway.
Angela CoxSheffield Cancer Research, Department of Oncology, University of Sheffield, Sheffield, UK.
Julie M CunninghamDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Stacey L EdwardsDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Ian TomlinsonWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Amanda B SpurdleDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Centre for Human Genetics · GBQIMR Berghofer Medical Research Institute · AUFriedrich-Alexander-Universität Erlangen-Nürnberg · DEChinese University of Hong Kong · HKKarolinska Institutet · SEHaukeland University Hospital · NOThe University of Melbourne · AUUniversity of Cambridge · GBCenter for Human Genetics · USInstitute of Cancer Research · GBKarolinska University Hospital · SEMayo Clinic in Florida · USGerman Cancer Research Center · DEJena University Hospital · DEMayo Clinic · USMedizinische Hochschule Hannover · DEUniversity of California, Los Angeles · USKU Leuven · BELondon School of Hygiene & Tropical Medicine · GBMayo Clinic in Arizona · US
Funding
Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI AKHILESH PANDEY · 1985 to 2026
$151.3MUse of microfluidic tumor cultures to enable clinical trials of therapies for ovarian cancerP50CA136393 · NCI · MAYO CLINIC ROCHESTER · PI ELLEN L. GOODE · 2009 to 2026
$37.0MEpidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6MEpidemiological and Clinical Translational Studies Post Genome-Wide AssociationU19CA148537 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI EASTON, DOUGLAS FREDERICK, EELES, ROSALIND · 2010 to 2014
$10.4MOvarian cancer GWAS discovery, expansion and replication (N2 - Project #1)U19CA148112 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI SELLERS, THOMAS A · 2010 to 2014
$10.2MA genome-wide association study for breast cancer in BRCA1 mutation carriersR01CA128978 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2008 to 2012
$4.8MGenetic Variation in the NF-kappaB Pathway and Ovarian Cancer EtiologyR01CA122443 · NCI · MAYO CLINIC ROCHESTER · PI GOODE, ELLEN L. · 2007 to 2012
$2.7MCancer Research UK 10118Cancer Research UK 10119Cancer Research UK 10124Cancer Research UK 12076Cancer Research UK 16561Cancer Research UK 16565Cancer Research UK 18927Cancer Research UK C12292/A11174Cancer Research UK C1281/A12014Cancer Research UK C1287/A10710Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C8197/A16565Medical Research Council G0000934Medical Research Council MC_PC_U127527198Medical Research Council MC_U127527198NCI NIH HHS P30 CA015083NCI NIH HHS P50 CA136393NCI NIH HHS R01 CA122443NCI NIH HHS R01 CA128978NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537Wellcome Trust 068545/Z/02Wellcome Trust 084818Wellcome Trust 085475Wellcome Trust 090532/Z/09Z
Abstract
We conducted a meta-analysis of three endometrial cancer genome-wide association studies (GWAS) and two follow-up phases totaling 7,737 endometrial cancer cases and 37,144 controls of European ancestry. Genome-wide imputation and meta-analysis identified five new risk loci of genome-wide significance at likely regulatory regions on chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.31 (rs13328298, in LOC643623 and near HEY2 and NCOA7), 8q24.21 (rs4733613, telomeric to MYC), 15q15.1 (rs937213, in EIF2AK4, near BMF) and 14q32.33 (rs2498796, in AKT1, near SIVA1). We also found a second independent 8q24.21 signal (rs17232730). Functional studies of the 13q22.1 locus showed that rs9600103 (pairwise r(2) = 0.98 with rs11841589) is located in a region of active chromatin that interacts with the KLF5 promoter region. The rs9600103[T] allele that is protective in endometrial cancer suppressed gene expression in vitro, suggesting that regulation of the expression of KLF5, a gene linked to uterine development, is implicated in tumorigenesis. These findings provide enhanced insight into the genetic and biological basis of endometrial cancer.
Indexed as
Genetic Predisposition to DiseaseGenome-Wide Association StudyChromosomes, Human, Pair 8Endometrial NeoplasmsFemaleHumansPolymorphism, Single NucleotidePromoter Regions, Genetic
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