ArticleNature genetics2019
A transcriptome-wide association study of high-grade serous epithelial ovarian cancer identifies new susceptibility genes and splice variants.
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Article in Nature genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 3 of them syntheses that pooled it.
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75citing papers in PubMed, 3 pooled it
5.3field-weighted citation impact, top 3% of its field
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Who cites it
75 citing papers in PubMed, 3 syntheses or guidelines pooled it, 126 citations in OpenAlex.
- Integrative Approaches Identify Genetic Determinants of Levodopa Induced Dyskinesia.Molecular neurobiology · 2025Pooled it
- Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk.Nature communications · 2024Pooled it
- Large-scale Integrated Analysis of Genetics and Metabolomic Data Reveals Potential Links Between Lipids and Colorectal Cancer Risk.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Pooled it
- Genotype-driven variations in lncRNA expression underlie predisposition to high-grade serous ovarian cancer.Journal of advanced research · 2026Article
- Multi-ancestry transcriptome-wide association studies uncover insights into breast cancer genetics and biology.Nature communications · 2026Article
- Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention.American journal of human genetics · 2026Article
- GENEasso: a curated resource of credible disease-gene associations across complex diseases from GWAS summary statistics.Nucleic acids research · 2026Article
- Integrative multi-omics analysis identifies SNRPE as a key driver gene in uterine corpus endometrial carcinoma: promoting tumor progression, and mediating immune evasion.Frontiers in immunology · 2026Article
- Diagnostic and prognostic biomarkers associated with histotype in advanced epithelial ovarian cancer.Scientific reports · 2025Article
- Transcriptome-wide association study of alternative polyadenylation identifies susceptibility genes in non-small cell lung cancer.Oncogene · 2025Article
- FarmGTEx TWAS-server: An Interactive Web Server for Customized TWAS Analysis.Genomics, proteomics & bioinformatics · 2025Article
- Genetic and functional analysis of unproductive splicing using LeafCutter2.bioRxiv : the preprint server for biology · 2025Article
- The role and mechanism of CHMP4C in poor prognosis and drug sensitivity of lung adenocarcinoma.Discover oncology · 2025Article
- Leveraging genome-wide association studies to better understand the etiology of cancers.Cancer science · 2025Review
- Enhancing disease risk gene discovery by integrating transcription factor-linked trans-variants into transcriptome-wide association analyses.Nucleic acids research · 2025Article
- Refining breast cancer genetic risk and biology through multi-ancestry fine-mapping analyses of 192 risk regions.Nature genetics · 2025Observational
- Cross-tissue transcriptome-wide association identify novel T1D susceptibility genes and drug candidates.Frontiers in immunology · 2025Article
- Development of a prognostic model based on lysosome-related genes for ovarian cancer: insights into tumor microenvironment, mutation patterns, and personalized treatment strategies.Cancer cell international · 2024Article
- A new method for network bioinformatics identifies novel drug targets for mucinous ovarian carcinoma.NAR genomics and bioinformatics · 2024Article
- Large-Scale Alternative Polyadenylation-Wide Association Studies to Identify Putative Cancer Susceptibility Genes.Cancer research · 2024Article
15 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors at 8 institutions in 3 countries.
Alexander GusevDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA. alexander_gusev@dfci.harvard.edu.ORCID http://orcid.org/0000-0002-7980-4620
Kate LawrensonWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Xianzhi LinWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Paulo C LyraCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Siddhartha KarCR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.
Kevin C VavraWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Felipe SegatoDepartment of Genetics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Marcos A S FonsecaWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Janet M LeeCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Tanya PejovicDepartment of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR, USA.
Gang LiuWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Ovarian Cancer Association Consortium
Beth Y KarlanWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Matthew L FreedmanDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Houtan NoushmehrDepartment of Genetics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
Alvaro N MonteiroCancer Epidemiology Program, H. Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.ORCID http://orcid.org/0000-0002-8448-4801
Paul D P PharoahCR-UK Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.ORCID http://orcid.org/0000-0001-8494-732X
Bogdan PasaniucDepartment of Pathology & Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-0227-2056
Simon A GaytherCenter for Bioinformatics and Functional Genomics, Department of Biomedical Sciences, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0001-7937-5443
Cedars-Sinai Medical Center · USMoffitt Cancer Center · USUniversidade de São Paulo · BRUniversity of Cambridge · GBBrigham and Women's Hospital · USDana-Farber Cancer Institute · USOregon Health & Science University · USUniversity of California, Los Angeles · US
Funding
USC/NORRIS COMPREHENSIVE CANCER CENTER (CORE) SUPPORTP30CA014089 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI MYLES G COCKBURN · 1985 to 2026
$181.4MOvarian 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
$10.2MMethods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3MEpidemiology and biology of lncRNAs in ovarian cancerR01CA207456 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI GAYTHER, SIMON ANDREW, KANETSKY, PETER A · 2016 to 2020
$4.4M(PQ3) A functional genomic approach to identification and interpretation of germline-tumor genetic interactionsR01CA227237 · NCI · DANA-FARBER CANCER INST · PI GUSEV, ALEXANDER, ZAITLEN, NOAH A · 2018 to 2022
$3.5MFunctional Effects of Ovarian Cancer Risk VariantsR01CA211707 · NCI · CEDARS-SINAI MEDICAL CENTER · PI FREEDMAN, MATTHEW L, GAYTHER, SIMON ANDREW · 2017 to 2021
$3.3MIdentifying causal variants and genes underlying breast cancer risk lociR01CA204954 · NCI · DANA-FARBER CANCER INST · PI FREEDMAN, MATTHEW L · 2016 to 2020
$3.0MIntegrative approaches for mapping the genetic risk of complex traitsR01HG009120 · NHGRI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI PASANIUC, BOGDAN · 2017 to 2021
$2.3MFunctional Analysis of LncRNAs in Epithelial Ovarian CancerR00CA184415 · NCI · CEDARS-SINAI MEDICAL CENTER · PI LAWRENSON, KATE · 2015 to 2017
$720kThe Role of Splice Quantitative Traits in Ovarian Cancer PathogenesisR21CA220078 · NCI · CEDARS-SINAI MEDICAL CENTER · PI LAWRENSON, KATE, PASANIUC, BOGDAN · 2017 to 2018
$417kCancer Research UK 10119Cancer Research UK 10124Cancer Research UK 16561NCI NIH HHS P30 CA014089NCI NIH HHS R00 CA184415NCI NIH HHS R01 CA204954NCI NIH HHS R01 CA207456NCI NIH HHS R01 CA211707NCI NIH HHS R01 CA227237NCI NIH HHS R21 CA220078NCI NIH HHS U19 CA148112NHGRI NIH HHS R01 HG006399NHGRI NIH HHS R01 HG009120
Abstract
We sought to identify susceptibility genes for high-grade serous ovarian cancer (HGSOC) by performing a transcriptome-wide association study of gene expression and splice junction usage in HGSOC-relevant tissue types (N = 2,169) and the largest genome-wide association study available for HGSOC (N = 13,037 cases and 40,941 controls). We identified 25 transcriptome-wide association study significant genes, 7 at the junction level only, including LRRC46 at 19q21.32, (P = 1 × 10
Indexed as
Alternative SplicingCarcinoma, Ovarian EpithelialCell Cycle ProteinsCell Line, TumorDatabases, GeneticEndosomal Sorting Complexes Required for TransportFemaleGene Expression Regulation, NeoplasticGene Knockout TechniquesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansModels, GeneticNuclear ProteinsOvarian NeoplasmsPolymorphism, Single NucleotideCell Cycle ProteinsCHMP4C protein, humanEndosomal Sorting Complexes Required for TransportNSL1 protein, humanNuclear ProteinsPRC1 protein, human
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