ArticleJournal of medical genetics2021
Population-based targeted sequencing of 54 candidate genes identifies
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Article in Journal of medical genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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38citing papers in PubMed
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Who cites it
38 citing papers in PubMed, 55 citations in OpenAlex.
- Insights into Ovarian Cancer: Unraveling the Role of DNA Double-strand Break-related Genes in Pathogenesis and Therapeutic Avenues.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- High-Grade Serous Ovarian Carcinoma in the Genomics Era: Current Applications, Challenges and Future Directions.International journal of molecular sciences · 2026Review
- Hereditary cancer syndromes with gynecological cancer risk: focus on prevention strategies.Frontiers in oncology · 2026Review
- Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield.Human mutation · 2026Article
- Mutational landscape and risk estimates of DDR genes in Chinese ovarian cancer patients.Journal of ovarian research · 2025Article
- Germline and somatic mutational variants of Tunisian high grade serous ovarian cancer identified by next-generation sequencing.BMC cancer · 2025Article
- Surgical Choice among Women with a First Breast Cancer and Pathogenic Variants in Breast Cancer Genes.Annals of surgical oncology · 2025Article
- Rare germline genetic variation in PAX8 transcription factor binding sites and susceptibility to epithelial ovarian cancer.American journal of epidemiology · 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
- Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan.International journal of cancer · 2025Article
- Aggressive Serous Carcinomas of the Female Reproductive Tract: Cancer-Prone Cell States and Genetic Drivers.Cancers · 2025Review
- Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.NPJ genomic medicine · 2025Article
- NovelInternational journal of molecular sciences · 2024Article
- Prevention of Ovarian Cancer: Where are We Now and Where are We Going?Current oncology reports · 2024Review
- Germline Genetic Testing for Hereditary Breast and Ovarian Cancer: Current Concepts in Risk Evaluation.Cold Spring Harbor perspectives in medicine · 2024Review
- A comprehensive study evaluating germline FANCG variants in predisposition to breast and ovarian cancer.Cancer medicine · 2024Article
- Exome sequencing identifiesmedRxiv : the preprint server for health sciences · 2024Article
- Early-Onset Ovarian Cancer <30 Years: What Do We Know about Its Genetic Predisposition?International journal of molecular sciences · 2023Review
- Germline Mutations in 12 Genes and Risk of Ovarian Cancer in Three Population-Based Cohorts.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
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Authors and funding
62 authors at 20 institutions in 8 countries.
Honglin Song *Department of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.
Ed M Dicks *Department of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.
Jonathan TyrerDepartment of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.
Maria IntermaggioSchool of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Georgia Chenevix-TrenchCancer Genetics, Queensland Institute of Medical Research-QIMR, Herston, Queensland, Australia.
David D BowtellCancer Genomics and Genetics and Women's Cancer Programs, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Nadia TraficanteSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
Aocs GroupQIMR Berghofer Department of Genetics and Computational Biology, Herston, Queensland, Australia.
James BrentonCancer Research UK Cambridge Institute, University of Cambridge, Cambridge, Cambridgeshire, UK.
Teodora GoranovaCancer Research UK Cambridge Institute, University of Cambridge, Cambridge, Cambridgeshire, UK.
Karen HoskingDepartment of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.
Anna PiskorzCancer Research UK Cambridge Institute, University of Cambridge, Cambridge, Cambridgeshire, UK.
Elke van OudenhoveLaura and Isaac Perlmutter Cancer Center, New York University, New York, New York, USA.
Jen DohertyHuntsman Institute, University of Utah, Salt Lake City, Utah, USA.
Holly R HarrisDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Mary Anne RossingDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
Matthias DuerstDepartment of Gynaecology, Jena University Hospital, Friedrich Schiller University Jena, Jena, Thüringen, Germany.
Thilo DorkGynaecology Research Unit, Hannover Medical School, Hannover, Niedersachsen, Germany.
Natalia V BogdanovaDepartment of Radiation Oncology, Hannover Medical School, Hannover, Niedersachsen, Germany.
Francesmary ModugnoWomens Cancer Research Center, Magee-Womens Research Institute, Pittsburgh, Pennsylvania, USA.
Kirsten MoysichDivision of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York, USA.
Kunle OdunsiDepartment of Gynecologic Oncology, Roswell Park Cancer Institute, Buffalo, New York, USA.
Roberta NessSchool of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA.
Beth Y KarlanDepartment of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Jenny LesterDepartment of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California, USA.
Allan JensenDepartment of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Kobenhavn, Denmark.
Susanne Krüger KjaerDepartment of Gynaecology, Rigshospitalet, University of Copenhagen, Kobenhavn, Denmark.
Estrid HøgdallDepartment of Virus, Lifestyle and Genes, Danish Cancer Society Research Center, Kobenhavn, Denmark.
Ian G CampbellSir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia.
Conxi LázaroHereditary Cancer Program, Catalan Institute of Oncology, Barcelona, Catalunya, Spain.
Miguel Angel PujaraTranslational Research Laboratory, Catalan Institute of Oncology, Barcelona, Catalunya, Spain.
Julie CunninghamDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Robert VierkantDepartment of Health Science Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
Stacey J WinhamDepartment of Health Science Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota, USA.
Michelle HildebrandtDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Chad HuffDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.ORCID 0000-0002-2386-1503
Donghui LiDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Xifeng WuDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Yao YuDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Jennifer B PermuthDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, USA.
Douglas A LevineDepartment of Surgery, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Joellen M SchildkrautDepartment of Public Health Sciences, University of Virginia, Charlottesville, Virginia, USA.
Marjorie J RigganDepartment of Gynecologic Oncology, Duke University Hospital, Durham, North Carolina, USA.
Andrew BerchuckDepartment of Gynecologic Oncology, Duke University Hospital, Durham, North Carolina, USA.
Penelope M WebbPopulation Health Department, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Opal Study GroupPopulation Health Department, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Cezary CybulskiDepartment of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland.ORCID 0000-0002-2819-3057
Jacek GronwaldDepartment of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University in Szczecin, Szczecin, Zachodniopomorskie, Poland.
Jennifer AlsopDepartment of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.
Patricia HarringtonDepartment of Oncology, University of Cambridge, Cambridge, Cambridgeshire, UK.
Isaac ChanSchool of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Usha MenonMRC Clinical Trials Unit, Institute of Clinical Trials & Methodology, University College London, London, London, UK.
Celeste L PearceDepartment of Epidemiology, University of Michigan School of Public Health, Ann Arbor, Michigan, USA.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Anna de FazioCentre for Cancer Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
Catherine J KennedyCentre for Cancer Research, The Westmead Institute for Medical Research, The University of Sydney, Sydney, New South Wales, Australia.
Ellen GoodeDepartment of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, Minnesota, USA.
Susan Ramus *School of Women's and Children's Health, Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
Simon Gayther *Center for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core, Cedars-Sinai Medical Center, Los Angeles, California, USA.
Paul Pharoah *Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK pp10001@medschl.cam.ac.uk.ORCID 0000-0001-8494-732X
University of Cambridge · GBThe University of Texas MD Anderson Cancer Center · USPomeranian Medical University · PLQIMR Berghofer Medical Research Institute · AUCedars-Sinai Medical Center · USMayo Clinic in Florida · USDuke University Hospital · USInstitut Català d'Oncologia · ESMedizinische Hochschule Hannover · DERoswell Park Comprehensive Cancer Center · USThe University of Melbourne · AUThe University of Sydney · AUUniversity of Copenhagen · DKUniversity of Washington · USUNSW Sydney · AUDanish Cancer Society · DKGarvan Institute of Medical Research · AUGynecologic Oncology Group · USJena University Hospital · DEMayo Clinic · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3MUCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MUse of microfluidic tumor cultures to enable clinical trials of therapies for ovarian cancerP50CA136393 · NCI · MAYO CLINIC ROCHESTER · PI Zhenkun Lou · 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
$29.2MRPCI-UPCI Ovarian Cancer SPOREP50CA159981 · NCI · ROSWELL PARK CANCER INSTITUTE CORP · PI MOYSICH, KIRSTEN B. · 2013 to 2025
$19.6MThe Molecular Epidemiology Of Ovarian CancerR01CA076016 · NCI · DUKE UNIVERSITY · PI SCHILDKRAUT, JOELLEN M. · 1998 to 2010
$6.2MDiscovery of Novel Rare Variants as Ovarian Cancer Susceptibility FactorsR01CA188943 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI HILDEBRANDT, MICHELLE A T, HUFF, CHAD DANIEL · 2015 to 2019
$5.5MRelating Molecular Subgroups of Endometriosis-Associated Ovarian Cancers to Survival and RiskR01CA248288 · NCI · MAYO CLINIC ROCHESTER · PI Stacey J Winham · 2021 to 2026
$4.8MEpidemiology of Ovarian Cancer:New HypothesesR01CA087538 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ROSSING, MARY ANNE · 2002 to 2006
$3.5MSteroid Hormone Genes and Ovarian Cancer RiskR01CA112523 · NCI · FRED HUTCHINSON CANCER RESEARCH CENTER · PI ROSSING, MARY ANNE · 2006 to 2010
$3.3MCancer Research UK 16561Cancer Research UK C490/A10119Cancer Research UK C490/A10124Cancer Research UK C490/A16561Medical Research Council MC_UU_12023/20Medical Research Council MR_UU_12023NCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1 TR001881NCI NIH HHS K07 CA080668NCI NIH HHS K22 CA193860NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA015083NCI NIH HHS P50 CA136393NCI NIH HHS P50 CA159981NCI NIH HHS R01 CA076016NCI NIH HHS R01 CA087538NCI NIH HHS R01 CA095023NCI NIH HHS R01 CA112523NCI NIH HHS R01 CA122443NCI NIH HHS R01 CA126841NCI NIH HHS R01 CA178535NCI NIH HHS R01 CA188943NCI NIH HHS R01 CA248288NCRR NIH HHS M01 RR000056
Abstract
purposeThe known epithelial ovarian cancer (EOC) susceptibility genes account for less than 50% of the heritable risk of ovarian cancer suggesting that other susceptibility genes exist. The aim of this study was to evaluate the contribution to ovarian cancer susceptibility of rare deleterious germline variants in a set of candidate genes.
methodsWe sequenced the coding region of 54 candidate genes in 6385 invasive EOC cases and 6115 controls of broad European ancestry. Genes with an increased frequency of putative deleterious variants in cases versus controls were further examined in an independent set of 14 135 EOC cases and 28 655 controls from the Ovarian Cancer Association Consortium and the UK Biobank. For each gene, we estimated the EOC risks and evaluated associations between germline variant status and clinical characteristics.
resultsThe ORs associated for high-grade serous ovarian cancer were 3.01 for
conclusionsWe have found strong evidence that carriers of
Indexed as
Genetic Predisposition to DiseaseCase-Control StudiesFanconi Anemia Complementation Group N ProteinFemaleGenetic VariationHumansOvarian NeoplasmsRisk AssessmentFanconi Anemia Complementation Group N ProteinPALB2 protein, humancancer: endocrinegenetic epidemiology
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