ArticleAmerican journal of human genetics2020
Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites.
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Article in American journal of human genetics, 2020. 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
1.1field-weighted citation impact, top 25% of its field
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes.Cell reports. Medicine · 2022Pooled it
- Genotype-driven variations in lncRNA expression underlie predisposition to high-grade serous ovarian cancer.Journal of advanced research · 2026Article
- Genomic structural equation modelling of 12 cancers identifies a latent pan-cancer susceptibility factor and shared determinants of carcinogenesis.EBioMedicine · 2026Article
- Single-cell multi-omics analysis reveals cancer regulatory elements of transcriptional programs and clinical implications.Cell death & disease · 2025Article
- Characterizing somatic mutations in ovarian cancer germline risk regions.Communications biology · 2025Article
- Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer.American journal of epidemiology · 2025Article
- Structural Analysis of Virus Regulatory N6-Methyladenosine (m6A) Machinery of the Black Flying Fox (Genes · 2024Article
- Article
- Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.Cellular and molecular life sciences : CMLS · 2024Review
- Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions.American journal of human genetics · 2024Article
- In silico enhancer mining reveals SNS-032 and EHMT2 inhibitors as therapeutic candidates in high-grade serous ovarian cancer.British journal of cancer · 2023Article
- Functional characterization of human genomic variation linked to polygenic diseases.Trends in genetics : TIG · 2023Review
- Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis ofHGG advances · 2023Article
- Copy Number Variants Are Ovarian Cancer Risk Alleles at Known and Novel Risk Loci.Journal of the National Cancer Institute · 2022Article
- chromMAGMA: regulatory element-centric interrogation of risk variants.Life science alliance · 2022Article
- Epithelial Ovarian Cancer: Providing Evidence of Predisposition Genes.International journal of environmental research and public health · 2022Review
- Leveraging Genomics, Transcriptomics, and Epigenomics to Understand the Biology and Chemoresistance of Ovarian Cancer.Cancers · 2021Review
- A Panel of rSNPs Demonstrating Allelic Asymmetry in Both ChIP-seq and RNA-seq Data and the Search for Their Phenotypic Outcomes through Analysis of DEGs.International journal of molecular sciences · 2021Article
- Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases.International journal of molecular sciences · 2021Review
- Overexpression of NPTX2 Promotes Malignant Phenotype of Epithelial Ovarian CarcinomaFrontiers in oncology · 2021Article
Corrections and comments
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Authors and funding
20 authors at 4 institutions in 3 countries.
Michelle R JonesCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Pei-Chen PengCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Simon G CoetzeeCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Jonathan TyrerCR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge CB1 8RN, UK.
Alberto Luiz P ReyesCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Rosario I CoronaCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Brian DavisCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Stephanie ChenCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Felipe DezemCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Ji-Heui SeoDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Siddartha KarMRC Integrative Epidemiology Unit, University of Bristol, Bristol BS8 2BN, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol BS8 2BN, UK.
Eileen DarengCR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge CB1 8RN, UK.
Ovarian Cancer Association Consortium
Benjamin P BermanCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada, Hebrew University-Hadassah Medical School, Jerusalem 9112102, Israel.
Matthew L FreedmanDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA 02215, USA.
Jasmine T PlummerCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Kate LawrensonCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Paul PharoahCR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge CB1 8RN, UK.
Dennis J HazelettCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Simon A GaytherCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA. Electronic address: simon.gayther@cshs.org.
Cedars-Sinai Medical Center · USUniversity of Cambridge · GBDana-Farber Cancer Institute · USUniversity of Bristol · GB
Funding
Functional Effects of Ovarian Cancer Risk VariantsR01CA211707 · NCI · CEDARS-SINAI MEDICAL CENTER · PI FREEDMAN, MATTHEW L, GAYTHER, SIMON ANDREW · 2017 to 2021
$3.3MGenomic and Transcriptomic Analysis of Breast and Ovarian CancersR01CA211574 · NCI · UNIVERSITY OF VIRGINIA · PI GAYTHER, SIMON ANDREW, SCHILDKRAUT, JOELLEN M. · 2018 to 2022
$3.1MDefining the epigenetic landscape in human prostate cancerR01CA193910 · NCI · DANA-FARBER CANCER INST · PI BROWN, MYLES A, FREEDMAN, MATTHEW L · 2015 to 2019
$3.1MThe contribution of rare alleles to ovarian cancer in the populationR01CA178535 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI GAYTHER, SIMON ANDREW, PHAROAH, PAUL · 2013 to 2017
$3.0MIdentifying causal variants and genes underlying breast cancer risk lociR01CA204954 · NCI · DANA-FARBER CANCER INST · PI FREEDMAN, MATTHEW L · 2016 to 2020
$3.0MSoftware Tools For Regulatory Analysis of Large Cancer Methylome DatasetsU01CA184826 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERMAN, BENJAMIN P · 2014 to 2016
$1.1MNCI NIH HHS R01 CA178535NCI NIH HHS R01 CA193910NCI NIH HHS R01 CA204954NCI NIH HHS R01 CA211574NCI NIH HHS R01 CA211707NCI NIH HHS U01 CA184826
Abstract
Quantifying the functional effects of complex disease risk variants can provide insights into mechanisms underlying disease biology. Genome-wide association studies have identified 39 regions associated with risk of epithelial ovarian cancer (EOC). The vast majority of these variants lie in the non-coding genome, where they likely function through interaction with gene regulatory elements. In this study we first estimated the heritability explained by known common low penetrance risk alleles for EOC. The narrow sense heritability (h
Indexed as
Enhancer Elements, GeneticAllelesBinding SitesCarcinoma, Ovarian EpithelialChromosome MappingCo-Repressor ProteinsCystadenocarcinoma, SerousFemaleGenetic Predisposition to DiseaseGenome, HumanGenome-Wide Association StudyHistonesHumansInheritance PatternsNerve Tissue ProteinsOvarian NeoplasmsCo-Repressor ProteinsHistonesNerve Tissue ProteinsRCOR1 protein, humancells of originepigenomicsepithelial ovarian cancerfunctional enrichmentgenome-wide association studiesheritabilitymotif
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What Socratic holds
Textmetadata
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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 Socratic graph.