ArticleHuman genetics2024
Germline copy number variants and endometrial cancer risk.
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Article in Human genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2citing papers in PubMed
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2 citing papers in PubMed.
- Tumor heterogeneity: development, mechanisms, and therapeutic implications.Signal transduction and targeted therapy · 2026Review
- Simultaneous occurrence of bilateral retroperitoneal neuroblastoma and bifocal malignant mixed germ cell tumor in a pediatric patient with 16p11.2 microdeletion syndrome: a case report.Frontiers in endocrinology · 2025Article
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Authors and funding
39 authors.
Cassie E Stylianou *Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
George A R Wiggins *Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand. george.wiggins@otago.ac.nz.
Vanessa L LauDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Joe DennisDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Andrew N ShellingDepartment of Obstetrics and Gynaecology, University of Auckland, Auckland, New Zealand.
Michelle WilsonTe Pūriri o Te Ora Regional Cancer and Blood Service, Auckland Hospital, Auckland, New Zealand.
Peter SykesDepartment of Obstetrics and Gynaecology, University of Otago, Christchurch, New Zealand.
Frederic AmantDivision of Gynecologic Oncology, Department of Obstetrics and Gynecology, University Hospitals KU Leuven, University of Leuven, Leuven, Belgium.
Daniela AnnibaliGynecological Oncology Laboratory, Department of Oncology, KU Leuven and Leuven Cancer Institute (LKI), Leuven, Belgium.
Wout De WispelaereGynecological Oncology Laboratory, Department of Oncology, KU Leuven and Leuven Cancer Institute (LKI), Leuven, Belgium.
Douglas F EastonDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Dylan M GlubbCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Ellen L GoodeDivision of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Diether LambrechtsLaboratory for Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Paul D P PharoahDepartment of Computational Biomedicine, Cedars-Sinai Medical Center, West Hollywood, CA, USA.
Rodney J ScottDivision of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, NSW, Australia.
Emma ThamDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Ian TomlinsonDepartment of Oncology, University of Oxford, Oxford, UK.
Manjeet K BollaDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Alison M DunningDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Olivia FletcherThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Montserrat García-ClosasDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Reiner HoppeDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
ABCTB Investigators
Helena JernströmOncology, Department of Clinical Sciences in Lund, Lund University, Lund, Sweden.
Rudolf KaaksDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Kyriaki MichailidouDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Nadia ObiInstitute for Occupational and Maritime Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Melissa C SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Jennifer StoneGenetic Epidemiology Group, School of Population and Global Health, University of Western Australia, Perth, WA, Australia.
Qin WangDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Amanda B SpurdlePublic Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Tracy A O'MaraCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
John PearsonDepartment of Medicine, University of Otago, Christchurch, New Zealand.
Logan C WalkerDepartment of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Funding
Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Lila J. Rutten · 1985 to 2026
$151.3MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9MUse of microfluidic tumor cultures to enable clinical trials of therapies for ovarian cancerP50CA136393 · NCI · MAYO CLINIC ROCHESTER · PI SCOTT H KAUFMANN · 2009 to 2026
$37.0MCore-001U01CA164920 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Irene Andrulis, Sarah Violet Colonna · 2018 to 2026
$17.0MBreast Cancer Family Registry CohortUM1CA164920 · NCI · CANCER PREVENTION INSTIT OF CALIFORNIA · PI ANDRULIS, IRENE, BUYS, SAUNDRA S · 2012 to 2017
$12.7MEpidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6MOvarian 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
$10.2MRisk and penetrance of mutations from breast cancer testing panels.R01CA192393 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$6.3MResolving the cancer relevance of predisposition gene mutationsR35CA253187 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2020 to 2026
$5.8MCOLLABORATIVE STUDY OF OVARIAN CANCER IN TWO RISK GROUPSR01CA058598 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI GOODMAN, MARC T · 1993 to 2012
$4.6MIdentifying and validating novel susceptibility genes for breast cancerR01CA176785 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, NATHANSON, KATHERINE L. · 2014 to 2018
$3.4MThe Mitochondrial Genome and Ovarian Cancer RiskR01CA149429 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI PHELAN, CATHERINE · 2010 to 2015
$3.1MHealth Research Council of New Zealand #19/460National Health and Medical Research Council APP1111246National Health and Medical Research Council APP177524NCI NIH HHS P30 CA015083NCI NIH HHS P50 CA116201NCI NIH HHS P50 CA136393NCI NIH HHS R01 CA058598NCI NIH HHS R01 CA097396NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA122443NCI NIH HHS R01 CA128931NCI NIH HHS R01 CA140286NCI NIH HHS R01 CA149429NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA177150NCI NIH HHS R01 CA192393NCI NIH HHS R35 CA253187NCI NIH HHS U01 CA164920NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS UM1 CA164920Wellcome Trust
Abstract
Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a genome-wide analysis of rare CNVs overlapping gene regions in 4115 endometrial cancer cases and 17,818 controls to identify functionally relevant variants associated with disease. We identified a 1.22-fold greater number of CNVs in DNA samples from cases compared to DNA samples from controls (p = 4.4 × 10
Indexed as
DNA Copy Number VariationsEndometrial NeoplasmsGenetic Predisposition to DiseaseGenome-Wide Association StudyCase-Control StudiesChromosomes, Human, Pair 16FemaleGerm-Line MutationHumansMiddle AgedPolymorphism, Single NucleotideRisk Factors
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.