ArticleHuman molecular genetics2016
Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
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Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15citing papers in PubMed
1.8field-weighted citation impact, top 13% of its field
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Clinicopathologic and molecular predictors of survival in BRCA-deficient tubo-ovarian high-grade serous carcinoma.Nature communications · 2026Article
- Boosting the Power of Rare Variant Association Studies by Imputation Using Large-scale Sequencing Population.Genomics, proteomics & bioinformatics · 2025Article
- Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.Research square · 2025Article
- BeyondmedRxiv : the preprint server for health sciences · 2025Article
- Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.European journal of human genetics : EJHG · 2025Article
- Article
- Exome sequencing identifiesmedRxiv : the preprint server for health sciences · 2024Article
- Characterization and prognostic impact of ACTBL2-positive tumor-infiltrating leukocytes in epithelial ovarian cancer.Scientific reports · 2023Article
- Integrating somatic CNV and gene expression in breast cancers from women with PTEN hamartoma tumor syndrome.NPJ genomic medicine · 2023Article
- Spatial Proteomics for Further Exploration of Missing Proteins: A Case Study of the Ovary.Journal of proteome research · 2023Article
- Mechanical instability generated by Myosin 19 contributes to mitochondria cristae architecture and OXPHOS.Nature communications · 2022Article
- Combinations of Low-Frequency Genetic Variants Might Predispose to Familial Pancreatic Cancer.Journal of personalized medicine · 2021Article
- Actin Beta-Like 2 as a New Mediator of Proliferation and Migration in Epithelial Ovarian Cancer.Frontiers in oncology · 2021Article
- Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.Nature communications · 2018Article
- Transcriptomic response of breast cancer cells to anacardic acid.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
80 authors at 20 institutions in 8 countries.
Jennifer B PermuthDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
Ailith PirieDepartment of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.
Y Ann ChenDepartment of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA.
Hui-Yi LinDepartment of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA.
Brett M ReidDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
Zhihua ChenDepartment of Biostatistics and Bioinformatics, Moffitt Cancer Center, Tampa, FL, USA.
Alvaro MonteiroDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
Joe DennisDepartment of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.
Gustavo Mendoza-FandinoDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
AOCS Study Group
Australian Cancer Study (Ovarian Cancer)
Hoda Anton-CulverDepartment of Epidemiology, Director of Genetic Epidemiology Research Institute, UCI School of Medicine, University of California Irvine, Irvine, CA, USA.
Elisa V BanderaCancer Prevention and Control Program, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA.
Maria BisognaGynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Louise BrintonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.
Angela Brooks-WilsonCanada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver BC, Canada.
Michael E CarneyDepartment of Obstetrics and Gynecology, John A Burns School of Medicine, University of Hawaii, Honolulu, Hawaii, USA.
Georgia Chenevix-TrenchGenetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Queensland, Australia.
Linda S CookDivision of Epidemiology and Biostatistics, Department of Internal Medicine, University of New Mexico, Albuquerque, New Mexico, USA.
Daniel W CramerObstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Julie M CunninghamDepartment of Laboratory of Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Cezary CybulskiInternational Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Aimee A D'AloisioSocial and Scientific Systems, Inc, Durham, NC, USA.
Jennifer Anne DohertyDepartment of Epidemiology, Geisel School of Medicine, Dartmouth College, Hanover, NY, USA.
Madalene EarpDepartment of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Robert P EdwardsDivision of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Brooke L FridleyDepartment of Biostatistics, University of Kansas Medical Center, Kansas City, KS, USA.
Simon A GaytherDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
Aleksandra Gentry-MaharajWomen's Cancer, Institute for Women's Health, University College London, London, UK.
Marc T GoodmanCancer Prevention and Control, Samuel Oshin Comprehensive Cancer Institute, Cedars- Sinai Medical Center, Los Angeles, CA, USA.
Jacek GronwaldInternational Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Estrid HogdallDepartment of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark and Molecular Unit, Department of Pathology, Herlev Hospital, University of Copenhagen, Copenhagen, Denmark.
Edwin S IversenDepartment of Statistical Science, Duke University, Durham, NC, USA.
Anna JakubowskaInternational Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Allan JensenDepartment of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark.
Beth Y KarlanWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Linda E KelemenDepartment of Public Health Sciences, Medical University of South Carolina College of Medicine, Charleston, SC, USA.
Suzanne K KjaerDepartment of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark.
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard TH Chan School of Public Health, Boston, MA, USA.
Nhu D LeCancer Control Research, BC Cancer Agency, Vancouver, BC, Canada.
Douglas A LevineGynecology Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Jolanta LissowskaDepartment of Cancer Epidemiology and Prevention, The Maria Sklodowska-Curie Memorial Cancer Center, Warsaw, Poland.
Jan LubinskiInternational Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Keitaro MatsuoDivision of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Aichi, Japan.
Usha MenonWomen's Cancer, Institute for Women's Health, University College London, London, UK.
Rosemary ModugnoDivision of Gynecologic Oncology, Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Kirsten B MoysichDepartment of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY, USA.
Toru NakanishiDepartment of Gynecologic Oncology, Aichi Cancer Center Central Hospital, Nagoya, Aichi, Japan.
Roberta B NessThe University of Texas School of Public Health, Houston, TX, USA.
Sara OlsonMemorial Sloan Kettering Cancer Center, Department of Epidemiology and Biostatistics, New York,NY, USA.
Irene OrlowMemorial Sloan Kettering Cancer Center, Department of Epidemiology and Biostatistics, New York,NY, USA.
Celeste L PearceDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
Tanja PejovicDepartment of Obstetrics and Gynecology, Oregon Health and Science University, Portland, OR, USA.
Elizabeth M PooleChanning Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Susan J RamusDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
Mary Anne RossingProgram in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Dale P SandlerEpidemiology Branch, Division of Intramural Research, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Xiao-Ou ShuVanderbilt University School of Medicine, Nashville, TN, USA.
Honglin SongDepartment of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.
Jack A TaylorEpidemiology Branch, Division of Intramural Research, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.
Soo-Hwang TeoCancer Research Malaysia, Subang Jaya, Malaysia.
Kathryn L TerryObstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Pamela J ThompsonWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Shelley S TworogerChanning Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Penelope M WebbPopulation Health Department, QIMR Berghofer Medical Research Institute, Herston, QLD, Australia.
Nicolas WentzensenDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda MD, USA.
Lynne R WilkensCancer Epidemiology Program, University of Hawaii Cancer Center, Hawaii, USA.
Stacey WinhamDepartment of Health Science Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
Yin-Ling WooDepartment of Obstetrics and Gynaecology, University Malaya Medical Centre, University Malaya, Kuala Lumpur, Malaysia.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
Hannah YangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda MD, USA.
Wei ZhengVanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA.
Argyrios ZiogasDepartment of Epidemiology, University of California Irvine, Irvine, CA, USA.
Catherine M PhelanDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
Joellen M SchildkrautDepartment of Community and Family Medicine, Duke University Medical Center, Durham, NC, USA.
Andrew BerchuckDepartment of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina, USA, Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk.
Ellen L GoodeDepartment of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Paul D P PharoahDepartment of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.
Thomas A SellersDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
Ovarian Cancer Association Consortium
Moffitt Cancer Center · USUniversity of Southern California · USBrigham and Women's Hospital · USMemorial Sloan Kettering Cancer Center · USUniversity of Cambridge · GBCedars-Sinai Medical Center · USUniversity of Hawaiʻi at Mānoa · USBC Cancer Agency · CAUniversity of California, Irvine · USVanderbilt University · USDartmouth College · USDuke University · USInternational Hereditary Cancer Center · PLMedical University of South Carolina · USRoswell Park Comprehensive Cancer Center · USRutgers, The State University of New Jersey · USUniversity Malaya Medical Centre · MYUniversity of Copenhagen · DKUniversity of Kansas Medical Center · USUniversity of Pittsburgh · 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
$181.4MXenograftP30CA046592 · NCI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Alexey I Nesvizhskii · 1988 to 2026
$178.2MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI AKHILESH PANDEY · 1985 to 2026
$151.3MHormone-Related CancersZIACP010126 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI GIERACH, GRETCHEN · 2009 to 2025
$103.5MTRANSCRIPTIONAL PROFILINGP30CA072720 · NCI · UNIV OF MED/DENT NJ-R W JOHNSON MED SCH · PI Tracie Saunders · 1997 to 2026
$94.5MTRANSLATIONAL RESEARCHP30CA076292 · NCI · UNIVERSITY OF SOUTH FLORIDA · PI Christine O'Connell · 1998 to 2026
$93.5MUniversity of Hawaii Cancer Center CCSGP30CA071789 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI GERTRAUD MASKARINEC · 1996 to 2026
$56.2MUse of microfluidic tumor cultures to enable clinical trials of therapies for ovarian cancerP50CA136393 · NCI · MAYO CLINIC ROCHESTER · PI ELLEN L. GOODE · 2009 to 2026
$37.0MWITHIN SUBJ VARIABILITY IN MEASUREMENTS DRUG METABOL ENZYMES IN HLTY SUBJM01RR000056 · NCRR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI LEVINE, ARTHUR S · 1985 to 2006
$29.2MEnvironmental and Genetic Risk Factors For Breast Cancer: The Sister StudyZIAES044005 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI SANDLER, DALE P · 2009 to 2025
$22.7MRPCI-UPCI Ovarian Cancer SPOREP50CA159981 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI MOYSICH, KIRSTEN B., ODUNSI, KUNLE · 2013 to 2025
$19.6MCancer Research UK 10119Cancer Research UK 10124Cancer Research UK 16561Intramural NIH HHS Z01 ES044005NCI NIH HHS K07 CA080668NCI NIH HHS K07 CA092044NCI NIH HHS K07 CA095666NCI NIH HHS K22 CA138563NCI NIH HHS N01 CN025403NCI NIH HHS N01 PC067010NCI NIH HHS P01 CA017054NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA014089NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA046592NCI NIH HHS P30 CA071789NCI NIH HHS P30 CA072720NCI NIH HHS P30 CA076292NCI NIH HHS P50 CA105009NCI NIH HHS P50 CA136393NCI NIH HHS P50 CA159981NCI NIH HHS R01 CA049449NCI NIH HHS R01 CA054419NCI NIH HHS R01 CA058598NCI NIH HHS R01 CA058860NCI NIH HHS R01 CA076016NCI NIH HHS R01 CA083918NCI NIH HHS R01 CA087538NCI NIH HHS R01 CA087696NCI NIH HHS R01 CA095023NCI NIH HHS R01 CA112523NCI NIH HHS R01 CA122443NCI NIH HHS R01 CA126841NCI NIH HHS R01 CA178535NCI NIH HHS R03 CA113148NCI NIH HHS R03 CA115195NCI NIH HHS R37 CA070867NCI NIH HHS U19 CA148112NCI NIH HHS UM1 CA182910NCRR NIH HHS M01 RR000056
Abstract
Rare and low frequency variants are not well covered in most germline genotyping arrays and are understudied in relation to epithelial ovarian cancer (EOC) risk. To address this gap, we used genotyping arrays targeting rarer protein-coding variation in 8,165 EOC cases and 11,619 controls from the international Ovarian Cancer Association Consortium (OCAC). Pooled association analyses were conducted at the variant and gene level for 98,543 variants directly genotyped through two exome genotyping projects. Only common variants that represent or are in strong linkage disequilibrium (LD) with previously-identified signals at established loci reached traditional thresholds for exome-wide significance (P < 5.0 × 10
Indexed as
ActinsBiotinidaseCarcinoma, Ovarian EpithelialExomeFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansKeratin-13Neoplasm ProteinsNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideReceptor, Melanocortin, Type 2ACTC1 protein, humanActinsBiotinidaseKeratin-13KRT13 protein, humanNeoplasm ProteinsReceptor, Melanocortin, Type 2
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