ArticleOncotarget2016
Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer.
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Article in Oncotarget, 2016. 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
4.3field-weighted citation impact, top 6% of its field
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- No Evidence That Genetic Variation in the Myeloid-Derived Suppressor Cell Pathway Influences Ovarian Cancer Survival.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2017Pooled it
- CircRNA-mTOR Promotes Hepatocellular Carcinoma Progression and Lenvatinib Resistance Through the PSIP1/c-Myc Axis.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Comparative Proteomics Analysis Reveals Distinct Molecular Phenotype and Biomarkers in Patients with Erythrodermic Atopic Dermatitis and Erythrodermic Psoriasis.Inflammation · 2025Article
- PSIP1/LEDGF reduces R-loops at transcription sites to maintain genome integrity.Nature communications · 2024Article
- Genomic Characterization of Rare Primary Cardiac Sarcoma Entities.Diagnostics (Basel, Switzerland) · 2023Article
- TTC39B destabilizes retinoblastoma protein promoting hepatic lipogenesis in a sex-specific fashion.Journal of hepatology · 2022Article
- Genome-wide association and functional interrogation identified a variant at 3p26.1 modulating ovarian cancer survival among Chinese women.Cell discovery · 2021Article
- Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer.Genome medicine · 2021Article
- Identification of a Locus NearCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2021Article
- The Molecular Landscape Influencing Prognoses of Epithelial Ovarian Cancer.Biomolecules · 2021Review
- A Novel Role for the Tumor Suppressor GeneCancers · 2020Article
- Variants in Notch signalling pathway genes, PSEN1 and MAML2, predict overall survival in Chinese patients with epithelial ovarian cancer.Journal of cellular and molecular medicine · 2018Article
- An epigenomic approach to identifying differential overlapping and cis-acting lncRNAs in cisplatin-resistant cancer cells.Epigenetics · 2018Article
- Article
- Analyses of germline variants associated with ovarian cancer survival identify functional candidates at the 1q22 and 19p12 outcome loci.Oncotarget · 2017Article
- H3K36me3 and PSIP1/LEDGF associate with several DNA repair proteins, suggesting their role in efficient DNA repair at actively transcribing loci.Wellcome open research · 2017Article
- Common variants upstream of KDR encoding VEGFR2 and in TTC39B associate with endometriosis.Nature communications · 2016Article
- Transcription Factor NFIB Is a Driver of Small Cell Lung Cancer Progression in Mice and Marks Metastatic Disease in Patients.Cell reports · 2016Article
- Genomic/Epigenomic Alterations in Ovarian Carcinoma: Translational Insight into Clinical Practice.Journal of Cancer · 2016Review
- Personalized Cancer Care: Risk Prediction, Early Diagnosis, Progression, and Therapy.Biomedicine hubArticle
Corrections and comments
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Authors and funding
78 authors at 20 institutions in 7 countries.
Juliet D FrenchQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Sharon E JohnattyQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Yi LuQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Jonathan BeesleyQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Bo GaoDepartment of Gynaecological Oncology and Centre for Cancer Research, The Westmead Institute for Medical Research, The University of Sydney, Westmead Hospital, Sydney, Australia.
Murugan KalimuthoQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Michelle J HendersonChildren's Cancer Institute Australia, Randwick, Australia.
Amanda J RussellChildren's Cancer Institute Australia, Randwick, Australia.
Siddhartha KarCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Xiaoqing ChenQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Kristine M HillmanQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Susanne KaufmannQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Haran SivakumaranQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Martin O'ReillyCancer Research UK Cambridge Research Institute, Li Ka Shing Centre, Cambridge, UK.
Chen WangDepartment of Health Sciences Research, Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
Darren J KorbieAustralian Institute for Bioengineering and Nanotechnology, University of Queensland, Brisbane, Australia.
Australian Ovarian Cancer Study Group
Australian Ovarian Cancer Study
Diether LambrechtsVesalius Research Center, VIB, Leuven, Belgium and Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium.
Evelyn DespierreGynecologic Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
Els Van NieuwenhuysenGynecologic Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
Sandrina LambrechtsGynecologic Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
Ignace VergoteGynecologic Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.
Beth KarlanWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Jenny LesterWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Sandra OrsulicWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Christine WalshWomen's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Peter A FaschingDepartment of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-Nuremberg, Erlangen, Germany.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-Nuremberg, Erlangen, Germany.
Arif B EkiciInstitute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
Alexander HeinDepartment of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-Nuremberg, Erlangen, Germany.
Keitaro MatsuoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Aichi, Japan.
Satoyo HosonoDivision of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Aichi, Japan.
Jacobus PistererZentrum für Gynäkologische Onkologie, Kiel, Germany.
Peter HillemannsDepartments of Obstetrics and Gynaecology, Hannover Medical School, Hannover, Germany.
Toru NakanishiDepartment of Gynecology, Aichi Cancer Center Central Hospital, Nagoya, Aichi, Japan.
Yasushi YatabeDepartment of Pathology and Molecular Diagnostics, Aichi Cancer Center Central Hospital, Nagoya, Aichi, Japan.
Marc T GoodmanCancer Prevention and Control Program, Samuel Oschin Comprehensive Cancer Institute, Cedars Sinai Medical Center, Los Angeles, CA, USA.
Galina LurieCancer Epidemiology Program, University of Hawaii Cancer Center, Hawaii, USA.
Rayna K MatsunoCancer Epidemiology Program, University of Hawaii Cancer Center, Hawaii, USA.
Pamela J ThompsonCancer Prevention and Control Program, Samuel Oschin Comprehensive Cancer Institute, Cedars Sinai Medical Center, Los Angeles, CA, USA.
Tanja PejovicDepartment of Obstetrics and Gynecology, Oregon Health and Science University and Knight Cancer Institute, Oregon Health and Science University, Portland, OR, USA.
Yukie BeanDepartment of Obstetrics and Gynecology, Oregon Health and Science University and Knight Cancer Institute, Oregon Health and Science University, Portland, OR, USA.
Florian HeitzDepartment of Gynecology and Gynecologic Oncology, Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.
Philipp HarterDepartment of Gynecology and Gynecologic Oncology, Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.
Andreas du BoisDepartment of Gynecology and Gynecologic Oncology, Dr. Horst Schmidt Kliniken Wiesbaden, Wiesbaden, Germany.
Ira SchwaabInstitut für Humangenetik Wiesbaden, Germany.
Estrid HogdallDanish Cancer Society Research Center, Unit of Virus, Lifestyle and Genes, Copenhagen, Denmark.
Susanne K KjaerDanish Cancer Society Research Center, Unit of Virus, Lifestyle and Genes, Copenhagen, Denmark.
Allan JensenDanish Cancer Society Research Center, Unit of Virus, Lifestyle and Genes, Copenhagen, Denmark.
Claus HogdallDepartment of Gynecology, Rigshospitalet, University of Copenhagen, Denmark.
Lene LundvallDepartment of Gynecology, Rigshospitalet, University of Copenhagen, Denmark.
Svend Aage EngelholmDepartment of Oncology, Rigshospitalet, University of Copenhagen, Denmark.
Bob BrownDepartment of Surgery and Cancer, Imperial College London, London, UK.
James M FlanaganDepartment of Surgery and Cancer, Imperial College London, London, UK.
Michelle D MetcalfDepartment of Surgery and Cancer, Imperial College London, London, UK.
Nadeem SiddiquiNorth Glasgow University Hospitals NHS Trust, Stobhill Hospital, Glasgow, UK.
Thomas SellersDepartment of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA.
Brooke FridleyDepartment of Biostatistics, University of Kansas Medical Center, Kansas City, KS, USA.
Julie CunninghamDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Joellen M SchildkrautDepartment of Community and Family Medicine, Duke University Medical Center, Durham, NC, USA.
Ed IversenDepartment of Statistical Science, Duke University, Durham, NC, USA.
Rachel Palmieri WeberDepartment of Community and Family Medicine, Duke University Medical Center, Durham, NC, USA.
Donal BrennanQueensland Centre for Gynaecological Cancer, Brisbane, Australia.
Andrew BerchuckDepartment of Obstetrics and Gynecology, Duke University Medical Center, Durham, NC, USA.
Paul PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Paul HarnettCrown Princess Mary Cancer Centre and Centre for Cancer Research, The Westmead Institute for Medical Research, The University of Sydney, Westmead Hospital, Sydney, Australia.
Murray D NorrisChildren's Cancer Institute Australia, Randwick, Australia.
Michelle HaberChildren's Cancer Institute Australia, Randwick, Australia.
Ellen L GoodeDepartment of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Jason S LeeQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Kum Kum KhannaQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Kerstin B MeyerCancer Research UK Cambridge Research Institute, Li Ka Shing Centre, Cambridge, UK.
Georgia Chenevix-TrenchQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Anna deFazioDepartment of Gynaecological Oncology and Centre for Cancer Research, The Westmead Institute for Medical Research, The University of Sydney, Westmead Hospital, Sydney, Australia.
Stacey L EdwardsQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Stuart MacGregorQIMR Berghofer Medical Research Institute, Brisbane, Australia.
Ovarian Cancer Association Consortium
QIMR Berghofer Medical Research Institute · AUCedars-Sinai Medical Center · USUniversity of Copenhagen · DKThe University of Sydney · AUUniversity of Hawaiʻi at Mānoa · USDuke Medical Center · USKU Leuven · BEAichi Cancer Center · JPDuke University · USHelios Dr. Horst Schmidt Kliniken Wiesbaden · DEMedizinische Hochschule Hannover · DEMoffitt Cancer Center · USOregon Health & Science University · USStobhill Hospital · GBUniversitätsklinikum Erlangen · DEUniversity of Cambridge · GBCancer Council Queensland · AUChildren's Cancer Institute Australia · AUFriedrich-Alexander-Universität Erlangen-Nürnberg · DEImperial College London · GB
Funding
Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3MVIRAL ONCOLOGY CORE FACILITYP30CA014599 · NCI · UNIVERSITY OF CHICAGO · PI MARK W. LINGEN · 1985 to 2026
$122.1MWhole GenomeU01GM061393 · NIGMS · UNIVERSITY OF CHICAGO · PI RATAIN, MARK J · 2000 to 2014
$39.0MUse of microfluidic tumor cultures to enable clinical trials of therapies for ovarian cancerP50CA136393 · NCI · MAYO CLINIC ROCHESTER · PI Zhenkun Lou · 2009 to 2026
$37.0MHaplotype-Based Genome Screen for Ovarian Cancer LociR01CA114343 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI SELLERS, THOMAS A · 2007 to 2011
$7.5MGenetic Variation in the NF-kappaB Pathway and Ovarian Cancer EtiologyR01CA122443 · NCI · MAYO CLINIC ROCHESTER · PI GOODE, ELLEN L. · 2007 to 2012
$2.7MGenome-wide interrogation of genetic signatures for glucocorticoid sensitivityK08GM089941 · NIGMS · UNIVERSITY OF CHICAGO · PI HUANG, RONG STEPHANIE · 2010 to 2014
$498kIncorporation of microRNA expression in pharmacogenetic prediction modelsR21CA139278 · NCI · UNIVERSITY OF CHICAGO · PI DOLAN, MARY EILEEN, HUANG, RONG STEPHANIE · 2009 to 2010
$378kRISK FACTORS AND PROGNOSTIC FACTORS FOR OVARIAN CANCERR01CA061107 · NCI · DANISH CANCER SOCIETY · PI KJAER, SUSANNE K · 1993 to 1995
–Cancer Research UK 10124Cancer Research UK 13086Cancer Research UK 16561Cancer Research UK C536/A6689NCI NIH HHS P30 CA014599NCI NIH HHS P30 CA015083NCI NIH HHS P30 CA14599NCI NIH HHS P50 CA136393NCI NIH HHS R01 CA114343NCI NIH HHS R01CA114343NCI NIH HHS R01 CA122443NCI NIH HHS R01 CA 61107NCI NIH HHS R21 CA139278NIGMS NIH HHS K08 GM089941NIGMS NIH HHS K08GM089941NIGMS NIH HHS U01 GM061393NIGMS NIH HHS UO1GM61393
Abstract
Women with epithelial ovarian cancer (EOC) are usually treated with platinum/taxane therapy after cytoreductive surgery but there is considerable inter-individual variation in response. To identify germline single-nucleotide polymorphisms (SNPs) that contribute to variations in individual responses to chemotherapy, we carried out a multi-phase genome-wide association study (GWAS) in 1,244 women diagnosed with serous EOC who were treated with the same first-line chemotherapy, carboplatin and paclitaxel. We identified two SNPs (rs7874043 and rs72700653) in TTC39B (best P=7x10-5, HR=1.90, for rs7874043) associated with progression-free survival (PFS). Functional analyses show that both SNPs lie in a putative regulatory element (PRE) that physically interacts with the promoters of PSIP1, CCDC171 and an alternative promoter of TTC39B. The C allele of rs7874043 is associated with poor PFS and showed increased binding of the Sp1 transcription factor, which is critical for chromatin interactions with PSIP1. Silencing of PSIP1 significantly impaired DNA damage-induced Rad51 nuclear foci and reduced cell viability in ovarian cancer lines. PSIP1 (PC4 and SFRS1 Interacting Protein 1) is known to protect cells from stress-induced apoptosis, and high expression is associated with poor PFS in EOC patients. We therefore suggest that the minor allele of rs7874043 confers poor PFS by increasing PSIP1 expression.
Indexed as
Adaptor Proteins, Signal TransducingApoptosisBiomarkers, TumorCell ProliferationChromatin ImmunoprecipitationCohort StudiesCystadenocarcinoma, SerousElectrophoretic Mobility Shift AssayEnhancer Elements, GeneticFallopian Tube NeoplasmsFemaleFollow-Up StudiesGerm-Line MutationHumansOvarian NeoplasmsPeritoneal NeoplasmsAdaptor Proteins, Signal TransducingBiomarkers, TumorPSIP1 protein, humanRNA, MessengerTranscription Factorschromosome conformation captureepithelial ovarian cancergenome-wide association studyprogression free survivalPSIP1
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