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Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Kuchenbaecker, Karoline B; Ramus, Susan J; Tyrer, Jonathan; Lee, Andrew; Shen, Howard C; Beesley, Jonathan; Lawrenson, Kate; McGuffog, Lesley; Healey, Sue; Lee, Janet M; Spindler, Tassja J; Lin, Yvonne G; Pejovic, Tanja; Bean, Yukie; Li, Qiyuan; Coetzee, Simon; Hazelett, Dennis; Miron, Alexander; Southey, Melissa; Terry, Mary Beth; Goldgar, David E; Buys, Saundra S; Janavicius, Ramunas; Dorfling, Cecilia M; van Rensburg, Elizabeth J; Neuhausen, Susan L; Ding, Yuan Chun; Hansen, Thomas V O; Jønson, Lars; Gerdes, Anne-Marie; Ejlertsen, Bent; Barrowdale, Daniel; Dennis, Joe; Benitez, Javier; Osorio, Ana; Garcia, Maria Jose; Komenaka, Ian; Weitzel, Jeffrey N; Ganschow, Pamela; Peterlongo, Paolo; Bernard, Loris; Viel, Alessandra; Bonanni, Bernardo; Peissel, Bernard; Manoukian, Siranoush; Radice, Paolo; Papi, Laura; Ottini, Laura; Fostira, Florentia; Konstantopoulou, Irene.
Afiliación
  • Kuchenbaecker KB; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Ramus SJ; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
  • Tyrer J; Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.
  • Lee A; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Shen HC; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
  • Beesley J; Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Lawrenson K; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
  • McGuffog L; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Healey S; Cancer Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  • Lee JM; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
  • Spindler TJ; Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA.
  • Lin YG; Department of Obstetrics and Gynecology, University of Southern California, Los Angeles, California, USA.
  • Pejovic T; 1] Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, Oregon, USA. [2] Knight Cancer Institute, Portland, Oregon, USA.
  • Bean Y; 1] Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, Oregon, USA. [2] Knight Cancer Institute, Portland, Oregon, USA.
  • Li Q; Department of Medical Oncology, Center for Functional Cancer Epigenetics, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.
  • Coetzee S; 1] Department of Genetics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil. [2] Center for Cell-Based Therapy, Monte Alegre, Ribeirão Preto, Brazil. [3] Center for Integrative Systems Biology, Monte Alegre, Ribeirão Preto, Brazil.
  • Hazelett D; 1] Department of Preventive Medicine, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, California, USA. [2] Department of Urology, University of Southern California, Los Angeles, California, USA.
  • Miron A; Department of Genomics and Genome Sciences, Case Western Reserve University Medical School, Cleveland, Ohio, USA.
  • Southey M; Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Victoria, Australia.
  • Terry MB; Department of Epidemiology, Columbia University, New York, New York, USA.
  • Goldgar DE; Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Buys SS; Department of Medicine, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Janavicius R; 1] Department of Molecular and Regenerative Medicine, Hematology, Oncology and Transfusion Medical Center, Vilinius University Hospital Santariskiu Clinics, Vilnius, Lithuania, Vilnius University Hospital Santariskiu Clinics, Hematology, Oncology and Transfusion Medicine Center, Department of Molecu
  • Dorfling CM; Department of Genetics, University of Pretoria, Pretoria, South Africa.
  • van Rensburg EJ; Department of Genetics, University of Pretoria, Pretoria, South Africa.
  • Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA.
  • Ding YC; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, USA.
  • Hansen TV; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Jønson L; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Gerdes AM; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Ejlertsen B; Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
  • Barrowdale D; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Dennis J; 1] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [2] Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.
  • Benitez J; 1] Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain. [2] Human Genotyping Unit (CEGEN), Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain. [3] Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
  • Osorio A; 1] Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain. [2] Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
  • Garcia MJ; 1] Human Genetics Group, Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Madrid, Spain. [2] Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
  • Komenaka I; Maricopa Medical Center, care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, California, USA.
  • Weitzel JN; Clinical Cancer Genetics, for the City of Hope Clinical Cancer Genetics Community Research Network, Duarte, California, USA.
  • Ganschow P; Cook County Health and Hospital System, care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, California, USA.
  • Peterlongo P; Fondazione Istituto FIRC (Italian Foundation for Cancer Research) di Oncologia Molecolare (IFOM), Milan, Italy.
  • Bernard L; 1] Department of Experimental Oncology, Istituto Europeo di Oncologia, Milan, Italy. [2] Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
  • Viel A; Division of Experimental Oncology, CRO (Centro di Riferimento Oncologico) Aviano National Cancer Institute, Aviano, Italy.
  • Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
  • Peissel B; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico (Italian Research Hospital)) Istituto Nazionale Tumori (INT), Milan, Italy.
  • Manoukian S; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico (Italian Research Hospital)) Istituto Nazionale Tumori (INT), Milan, Italy.
  • Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
  • Papi L; Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy.
  • Ottini L; Department of Molecular Medicine, University La Sapienza, Rome, Italy.
  • Fostira F; Molecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology), National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis, Athens, Greece.
  • Konstantopoulou I; Molecular Diagnostics Laboratory, INRASTES (Institute of Nuclear and Radiological Sciences and Technology), National Centre for Scientific Research 'Demokritos', Aghia Paraskevi Attikis, Athens, Greece.
Nat Genet ; 47(2): 164-71, 2015 Feb.
Article en En | MEDLINE | ID: mdl-25581431
ABSTRACT
Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Neoplasias Glandulares y Epiteliales / Proteína BRCA1 / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Proteína BRCA2 / Estudio de Asociación del Genoma Completo Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Adolescent / Adult / Female / Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Ováricas / Neoplasias Glandulares y Epiteliales / Proteína BRCA1 / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple / Proteína BRCA2 / Estudio de Asociación del Genoma Completo Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Adolescent / Adult / Female / Humans Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Reino Unido