ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2016
Investigation of Exomic Variants Associated with Overall Survival in Ovarian Cancer.
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Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7citing papers in PubMed
2.2field-weighted citation impact, top 12% of its field
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Clinicopathologic and molecular predictors of survival in BRCA-deficient tubo-ovarian high-grade serous carcinoma.Nature communications · 2026Article
- 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
- Polymorphisms in autophagy genes are genetic susceptibility factors in glioblastoma development.BMC cancer · 2022Article
- Molecular signatures of X chromosome inactivation and associations with clinical outcomes in epithelial ovarian cancer.Human molecular genetics · 2019Article
- Biologic Mechanisms Linked to Prognosis in Ovarian Cancer that May Be Affected by Aging.Journal of Cancer · 2019Review
- An integrative approach to assess X-chromosome inactivation using allele-specific expression with applications to epithelial ovarian cancer.Genetic epidemiology · 2017Article
Corrections and comments
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Authors and funding
68 authors at 20 institutions in 6 countries.
Stacey J WinhamDepartment of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
Ailith PirieCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Yian Ann ChenDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Melissa C LarsonDepartment of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
Zachary C FogartyDepartment of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
Madalene A EarpDepartment of Health Sciences Research, Division of Epidemiology, Mayo Clinic, Rochester, Minnesota.
Hoda Anton-CulverDepartment of Epidemiology, University of California Irvine, Irvine, California.
Elisa V BanderaRutgers Cancer Institute of New Jersey and Robert Wood Johnson Medical School, New Brunswick, New Jersey.
Daniel CramerObstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts. Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts.
Jennifer A DohertySection of Biostatistics and Epidemiology, The Geisel School of Medicine at Dartmouth, Lebanon, New Hampshire.
Marc T GoodmanSamuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Jacek GronwaldDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Beth Y KarlanWomen's Cancer Program, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Susanne K KjaerVirus, Lifestyle, and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark. Department of Gynecology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Douglas A LevineGynecology Service, Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York.
Usha MenonGynaecological Cancer Research Centre, Department of Women's Cancer, Institute for Women's Health, University College London, London, United Kingdom.
Roberta B NessThe University of Texas School of Public Health, Houston, Texas.
Celeste L PearceDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
Tanja PejovicDepartment of Obstetrics and Gynecology, Oregon Health and Science University, Portland, Oregon. Knight Cancer Institute, Oregon Health and Science University, Portland, Oregon.
Mary Anne RossingDepartment of Epidemiology, University of Washington, Seattle, Washington. Program in Epidemiology, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington.
Nicolas WentzensenDivision of Cancer Epidemiology and Genetics, NCI, Bethesda, Maryland.
Yukie T BeanDepartment of Obstetrics and Gynecology, Oregon Health and Science University, Portland, Oregon. Knight Cancer Institute, Oregon Health and Science University, Portland, Oregon.
Maria BisognaGynecology Service, Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York.
Louise A BrintonDivision of Cancer Epidemiology and Genetics, NCI, Bethesda, Maryland.
Michael E CarneyDepartment of Obstectrics and Gynecology, John A. Burns School of Medicine, University of Hawaii, Honolulu, Hawaii.
Julie M CunninghamDepartment of Laboratory Medicine and Pathology, Division of Experimental Pathology, Mayo Clinic, Rochester, Minnesota.
Cezary CybulskiDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical Academy, Szczecin, Poland.
Anna deFazioDepartment of Gynaecological Oncology, Westmead Hospital, Sydney, Australia. Center for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney, Australia.
Ed M DicksCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom.
Robert P EdwardsDepartment of Obstetrics, Gynecology, and Reproductive Sciences, Division of Gynecologic Oncology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
Simon A GaytherDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
Aleksandra Gentry-MaharajGynaecological Cancer Research Centre, Department of Women's Cancer, Institute for Women's Health, University College London, London, United Kingdom.
Martin GoreGynecological Oncology Unit, The Royal Marsden Hospital, London, United Kingdom.
Edwin S IversenDepartment of Statistical Science, Duke University, Durham, North Carolina.
Allan JensenVirus, Lifestyle, and Genes, Danish Cancer Society Research Center, Copenhagen, Denmark.
Sharon E JohnattyDepartment of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.
Jenny LesterWomen's Cancer Program, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Hui-Yi LinDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Jolanta LissowskaDepartment of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology, Warsaw, Poland.
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Janusz MenkiszakDepartment of Surgical Gynecology and Gynecological Oncology of Adults and Adolescents, Pomeranian Medical University, Szczecin, Poland.
Francesmary ModugnoDepartment of Obstetrics, Gynecology, and Reproductive Sciences, Division of Gynecologic Oncology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania. Department of Epidemiology, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania. Womens Cancer Research Program, Magee-Women's Research Institute and University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania.
Kirsten B MoysichDepartment of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York.
Irene OrlowDepartment of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, New York.
Malcolm C PikeDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California. Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, New York.
Susan J RamusDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
Honglin SongCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom.
Kathryn L TerryObstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts. Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts.
Pamela J ThompsonSamuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Jonathan P TyrerCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom.
David J van den BergDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
Robert A VierkantDepartment of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, Minnesota.
Allison F VitonisObstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
Christine WalshWomen's Cancer Program, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California.
Lynne R WilkensCancer Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii.
Anna H WuDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
Hannah YangDivision of Cancer Epidemiology and Genetics, NCI, Bethesda, Maryland.
Argyrios ZiogasDepartment of Epidemiology, Center for Cancer Genetics Research and Prevention, School of Medicine, University of California Irvine, Irvine, California.
Andrew BerchuckDuke Cancer Institute, Duke University Medical Center, Durham, North Carolina.
Georgia Chenevix-Trench
Joellen M SchildkrautPublic Health Services, University of Virginia, Charlottesville, Virginia.
Jennifer Permuth-WeyDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Catherine M PhelanDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, United Kingdom.
Brooke L FridleyKansas IDeA Network of Biomedical Research Excellence Bioinformatics Core, University of Kansas Cancer Center, Kansas City, Kansas.
Thomas A SellersDepartment of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida.
Ellen L GoodeDepartment of Health Sciences Research, Division of Epidemiology, Mayo Clinic, Rochester, Minnesota. egoode@mayo.edu.
Australian Ovarian Cancer Study Group
Mayo Clinic in Florida · USMoffitt Cancer Center · USUniversity of Southern California · USCancer Research UK Cambridge Center · GBCedars-Sinai Medical Center · USBrigham and Women's Hospital · USCancer Genetics (United States) · USMemorial Sloan Kettering Cancer Center · USPomeranian Medical University · PLLondon Cancer · GBOregon Health & Science University · USUniversity of California, Irvine · USUniversity of Pittsburgh · USUniversity of Virginia Health System · USCancer Center of Hawaii · USDanish Cancer Society · DKDartmouth College · USDuke Medical Center · USInternational Hereditary Cancer Center · PLJohnson University · US
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MUSC/NORRIS COMPREHENSIVE CANCER CENTER (CORE) SUPPORTP30CA014089 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI Fumito Ito · 1985 to 2026
$181.4MWomen's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 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 Chang S Chan · 1997 to 2026
$94.5MUCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0MUniversity of Hawaii Cancer Center CCSGP30CA071789 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI Xin Chen · 1996 to 2026
$56.2MUse 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
$19.6MUSC CANCER EPIDEMIOLOGY &BIOSTATISTICS UNITP01CA017054 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 1985 to 2009
$18.2MNovel Serum, Plasma, and Urine Biomarkers of Ovarian CanP50CA105009 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI CRAMER, DANIEL WILLIAM · 2004 to 2010
$13.3MCancer Research UK 10119Cancer Research UK 10124Cancer Research UK 16561Cancer Research UK A10119Cancer Research UK A10124Cancer Research UK C490/A10119Cancer Research UK C490/A10124Medical Research CouncilNCATS NIH HHS UL1 TR000124NCATS NIH HHS UL1TR000124NCI NIH HHS K07 CA080668NCI NIH HHS K07-CA080668NCI NIH HHS K07 CA095666NCI NIH HHS K22 CA138563NCI NIH HHS K22-CA138563NCI NIH HHS N01 CN025403NCI NIH HHS N01-CN025403NCI NIH HHS N01-CN-55424NCI NIH HHS N01 PC067010NCI NIH HHS N01-PC-67001NCI NIH HHS N01-PC67010NCI NIH HHS P01 CA017054NCI NIH HHS P01-CA17054NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA014089NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA071789NCI NIH HHS P30 CA072720NCI NIH HHS P30-CA072720NCI NIH HHS P30-CA14089NCI NIH HHS P30-CA15083NCI NIH HHS P50 CA105009NCI NIH HHS P50-CA105009NCI NIH HHS P50 CA136393NCI NIH HHS P50 CA159981NCI NIH HHS P50-CA159981NCI NIH HHS R01 CA054419NCI NIH HHS R01 CA058598NCI NIH HHS R01 CA095023NCI NIH HHS R01 CA122443NCI NIH HHS R01-CA122443NCI NIH HHS R01 CA126841NCI NIH HHS R01-CA126841NCI NIH HHS R01 CA-149429NCI NIH HHS R01 CA149429NCI NIH HHS R01 CA178535NCI NIH HHS R01-CA54419NCI NIH HHS R01-CA58598NCI NIH HHS R01 CA61107NCI NIH HHS R01-CA61132NCI NIH HHS R01-CA95023NCI NIH HHS R03 CA113148NCI NIH HHS R03-CA113148NCI NIH HHS R03 CA115195NCI NIH HHS R03-CA115195NCI NIH HHS U19 CA148112NCI NIH HHS U19-CA148112NCRR NIH HHS M01 RR000056NCRR NIH HHS M01-RR000056NICHD NIH HHS K12 HD065987NICHD NIH HHS K12HD065987
Abstract
backgroundWhile numerous susceptibility loci for epithelial ovarian cancer (EOC) have been identified, few associations have been reported with overall survival. In the absence of common prognostic genetic markers, we hypothesize that rare coding variants may be associated with overall EOC survival and assessed their contribution in two exome-based genotyping projects of the Ovarian Cancer Association Consortium (OCAC).
methodsThe primary patient set (Set 1) included 14 independent EOC studies (4,293 patients) and 227,892 variants, and a secondary patient set (Set 2) included six additional EOC studies (1,744 patients) and 114,620 variants. Because power to detect rare variants individually is reduced, gene-level tests were conducted. Sets were analyzed separately at individual variants and by gene, and then combined with meta-analyses (73,203 variants and 13,163 genes overlapped).
resultsNo individual variant reached genome-wide statistical significance. A SNP previously implicated to be associated with EOC risk and, to a lesser extent, survival, rs8170, showed the strongest evidence of association with survival and similar effect size estimates across sets (Pmeta = 1.1E-6, HRSet1 = 1.17, HRSet2 = 1.14). Rare variants in ATG2B, an autophagy gene important for apoptosis, were significantly associated with survival after multiple testing correction (Pmeta = 1.1E-6; Pcorrected = 0.01).
conclusionsCommon variant rs8170 and rare variants in ATG2B may be associated with EOC overall survival, although further study is needed. IMPACT: This study represents the first exome-wide association study of EOC survival to include rare variant analyses, and suggests that complementary single variant and gene-level analyses in large studies are needed to identify rare variants that warrant follow-up study. Cancer Epidemiol Biomarkers Prev; 25(3); 446-54. ©2016 AACR.
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ExomeFemaleGenotypeHumansMiddle AgedOvarian NeoplasmsSurvival Rate
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