ArticleCancer research2019
Functional Analysis and Fine Mapping of the 9p22.2 Ovarian Cancer Susceptibility Locus.
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Article in Cancer research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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20citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 31% of its field
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- BNC2 in Development and Disease: Regulatory Mechanisms and Translational Implications.Molecules (Basel, Switzerland) · 2026Review
- Genome-Wide cfDNA Methylation Profiling Reveals Robust Hypermethylation Signatures in Ovarian Cancer.Cancers · 2025Article
- Characterizing somatic mutations in ovarian cancer germline risk regions.Communications biology · 2025Article
- Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.American journal of human genetics · 2024Article
- Cis- and trans-eQTL TWASs of breast and ovarian cancer identify more than 100 susceptibility genes in the BCAC and OCAC consortia.American journal of human genetics · 2024Article
- Fine-scale mapping of chromosome 9q22.33 identifies candidate causal variant in ovarian cancer.PeerJ · 2024Article
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- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- Common Genetic Variation and Age of Onset of Anorexia Nervosa.Biological psychiatry global open science · 2022Article
- Functional genomics uncovers the transcription factor BNC2 as required for myofibroblastic activation in fibrosis.Nature communications · 2022Article
- Functional genomic analysis delineates regulatory mechanisms of GWAS-identified bipolar disorder risk variants.Genome medicine · 2022Article
- Functional genomics elucidates regulatory mechanisms of Parkinson's disease-associated variants.BMC medicine · 2022Article
- Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer.American journal of human genetics · 2022Article
- The Molecular Landscape Influencing Prognoses of Epithelial Ovarian Cancer.Biomolecules · 2021Review
- Meta-Analyses of Splicing and Expression Quantitative Trait Loci Identified Susceptibility Genes of Glioma.Frontiers in genetics · 2021Article
- DNA Methylation in Ovarian Cancer Susceptibility.Cancers · 2020Review
- Expanding the knowledge on development of CAKUT: molecular genetics and beyond.Annals of translational medicine · 2019Article
- Fusion of theIn vivo (Athens, Greece)Article
Corrections and comments
- Commented on byA Dynamic2019
Authors and funding
28 authors at 12 institutions in 4 countries.
Melissa A BuckleyCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Nicholas T WoodsCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Jonathan P TyrerThe Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Gustavo Mendoza-FandiñoCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Kate LawrensonWomen's Cancer Program at the Samuel Oschin Comprehensive, Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.ORCID 0000-0002-6469-2515
Dennis J HazelettDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California.ORCID 0000-0003-0749-9935
Hamed S NajafabadiDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.ORCID 0000-0003-2735-4231
Anxhela GjyshiCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Renato S CarvalhoCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Paulo C LyraCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Simon G CoetzeeDepartment of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California.ORCID 0000-0003-4267-5930
Howard C ShenDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California.
Ally W YangDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Madalene A EarpDivision of Biomedical Statistics and Informatics, Department of Health Science Research, Mayo Clinic, Rochester, Minnesota.
Sean J YoderMolecular Genomics Core, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.ORCID 0000-0003-0005-7798
Harvey RischDepartment of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, Connecticut.
Georgia Chenevix-TrenchQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Susan J RamusSchool of Women's and Children's Health, University of New South Wales, Sydney, Australia.
Catherine M PhelanCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Gerhard A CoetzeeDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California.ORCID 0000-0003-4267-5930
Houtan NoushmehrDepartment of Neurosurgery, Henry Ford Health System, Detroit, Michigan.ORCID 0000-0003-4051-8114
Timothy R HughesDonnelly Centre, University of Toronto, Toronto, Ontario, Canada.
Thomas A SellersCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Ellen L GoodeDivision of Biomedical Statistics and Informatics, Department of Health Science Research, Mayo Clinic, Rochester, Minnesota.
Paul D PharoahThe Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Simon A GaytherWomen's Cancer Program at the Samuel Oschin Comprehensive, Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Alvaro N A Monteiro
Ovarian Cancer Association Consortium
Moffitt Cancer Center · USCedars-Sinai Medical Center · USUniversity of Southern California · USUniversity of South Florida · USMayo Clinic · USUniversity of Cambridge · GBUniversity of Toronto · CACanadian Institute for Advanced Research · CAGarvan Institute of Medical Research · AUHenry Ford Health System · USQIMR Berghofer Medical Research Institute · AUYale University · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Hongbiao Carl Lekaye · 1985 to 2026
$347.4MUSC/NORRIS COMPREHENSIVE CANCER CENTER (CORE) SUPPORTP30CA014089 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI MYLES G COCKBURN · 1985 to 2026
$181.4MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI AKHILESH PANDEY · 1985 to 2026
$151.3MTwo-Spirit Films in Indigenous Cancer HealthP30CA016056 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI Dean G. Tang · 1985 to 2026
$116.6MTRANSLATIONAL RESEARCHP30CA076292 · NCI · UNIVERSITY OF SOUTH FLORIDA · PI Christine O'Connell · 1998 to 2026
$93.5MStatistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8MUse of microfluidic tumor cultures to enable clinical trials of therapies for ovarian cancerP50CA136393 · NCI · MAYO CLINIC ROCHESTER · PI ELLEN L. GOODE · 2009 to 2026
$37.0MRisk Factors for Breast Cancer in Younger NursesR01CA050385 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI ELIASSEN, A. HEATHER, WILLETT, WALTER C. · 1989 to 2019
$32.3MTarget Validation CoreP20GM121316 · NIGMS · UNIVERSITY OF NEBRASKA MEDICAL CENTER · PI Robert E. Lewis · 2018 to 2026
$23.5MUsing MC1R genotype to impact skin cancer risk behaviors in Hispanics/LatinosU54CA163068 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI Shannon Marie Christy · 2012 to 2026
$23.1MUsing MC1R genotype to impact skin cancer risk behaviors in Hispanics/LatinosU54CA163071 · NCI · PONCE SCHOOL OF MEDICINE · PI Harold I Saavedra · 2012 to 2026
$23.0MNorthern California Cooperative Family Registry for Breast CancerU01CA069417 · NCI · NORTHERN CALIFORNIA CANCER CENTER · PI JOHN, ESTHER M. · 1995 to 2010
$22.4MCancer Research UK 10119Cancer Research UK 10124Cancer Research UK 16561Cancer Research UK C1312/A15589Cancer Research UK C490/A16561Cancer Research UK C490/A6187Cancer Research UK C536/A13086Cancer Research UK C536/A6689Department of HealthNCI NIH HHS F31 CA165528NCI NIH HHS K07 CA092044NCI NIH HHS K07 CA095666NCI NIH HHS K07 CA143047NCI NIH HHS K22 CA138563NCI NIH HHS K99 CA184415NCI NIH HHS N01 CN025403NCI NIH HHS N01 PC035137NCI NIH HHS N01 PC067010NCI NIH HHS P01 CA017054NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA014089NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA016056NCI NIH HHS P30 CA076292NCI NIH HHS P50 CA105009NCI NIH HHS P50 CA136393NCI NIH HHS P50 CA159981NCI NIH HHS R00 CA184415NCI NIH HHS R01 CA049449NCI NIH HHS R01 CA050385NCI NIH HHS R01 CA054419NCI NIH HHS R01 CA058598NCI NIH HHS R01 CA058860NCI NIH HHS R01 CA063678NCI NIH HHS R01 CA063682NCI NIH HHS R01 CA064277NCI NIH HHS R01 CA067262NCI NIH HHS R01 CA074850NCI NIH HHS R01 CA076016NCI NIH HHS R01 CA080742NCI NIH HHS R01 CA083918NCI NIH HHS R01 CA087538NCI NIH HHS R01 CA087696NCI NIH HHS R01 CA092309NCI NIH HHS R01 CA106414NCI NIH HHS R01 CA112523NCI NIH HHS R01 CA114343NCI NIH HHS R01 CA122443NCI NIH HHS R01 CA126841NCI NIH HHS R01 CA136924NCI NIH HHS R01 CA149429NCI NIH HHS R03 CA113148NCI NIH HHS R03 CA115195NCI NIH HHS R37 CA070867NCI NIH HHS U01 CA069417NCI NIH HHS U19 CA148112NCI NIH HHS U54 CA163068NCI NIH HHS U54 CA163071NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA186107NIGMS NIH HHS P20 GM121316Wellcome TrustWellcome Trust 076113
Abstract
Genome-wide association studies have identified 40 ovarian cancer risk loci. However, the mechanisms underlying these associations remain elusive. In this study, we conducted a two-pronged approach to identify candidate causal SNPs and assess underlying biological mechanisms at chromosome 9p22.2, the first and most statistically significant associated locus for ovarian cancer susceptibility. Three transcriptional regulatory elements with allele-specific effects and a scaffold/matrix attachment region were characterized and, through physical DNA interactions,
Indexed as
Chromosomes, Human, Pair 9Base SequenceCarcinoma, Ovarian EpithelialCell Cycle ProteinsCell Line, TumorChromosome MappingCystadenocarcinoma, SerousDNA-Binding ProteinsDNA, NeoplasmFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHEK293 CellsHumansLinkage DisequilibriumOvarian NeoplasmsBNC2 protein, humanCell Cycle ProteinsCNTLN protein, humanDNA-Binding ProteinsDNA, Neoplasm
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