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Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.
Feng, Helian; Gusev, Alexander; Pasaniuc, Bogdan; Wu, Lang; Long, Jirong; Abu-Full, Zomoroda; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Antoniou, Antonis C; Arason, Adalgeir; Arndt, Volker; Aronson, Kristan J; Arun, Banu K; Asseryanis, Ella; Auer, Paul L; Azzollini, Jacopo; Balmaña, Judith; Barkardottir, Rosa B; Barnes, Daniel R; Barrowdale, Daniel; Beckmann, Matthias W; Behrens, Sabine; Benitez, Javier; Bermisheva, Marina; Bialkowska, Katarzyna; Blanco, Ana; Blomqvist, Carl; Boeckx, Bram; Bogdanova, Natalia V; Bojesen, Stig E; Bolla, Manjeet K; Bonanni, Bernardo; Borg, Ake; Brauch, Hiltrud; Brenner, Hermann; Briceno, Ignacio; Broeks, Annegien; Brüning, Thomas; Burwinkel, Barbara; Cai, Qiuyin; Caldés, Trinidad; Caligo, Maria A; Campbell, Ian; Canisius, Sander; Campa, Daniele; Carter, Brian D; Carter, Jonathan; Castelao, Jose E; Chang-Claude, Jenny.
Affiliation
  • Feng H; Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
  • Gusev A; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
  • Pasaniuc B; Department of Biostatistics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.
  • Wu L; Dana-Farber Cancer Institute, Boston, Massachusetts.
  • Long J; UCLA Path & Lab Med, Los Angeles, California.
  • Abu-Full Z; Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii.
  • Aittomäki K; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
  • Andrulis IL; Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel.
  • Anton-Culver H; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
  • Antoniou AC; Fred A, Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
  • Arason A; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
  • Arndt V; Department of Epidemiology, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, California.
  • Aronson KJ; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Arun BK; Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
  • Asseryanis E; BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Auer PL; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Azzollini J; Department of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, Ontario, Canada.
  • Balmaña J; Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas.
  • Barkardottir RB; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
  • Barnes DR; Cancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, Washington.
  • Barrowdale D; Zilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, Wisconsin.
  • Beckmann MW; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
  • Behrens S; High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.
  • Benitez J; Department of Pathology, Landspitali University Hospital, Reykjavik, Iceland.
  • Bermisheva M; BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
  • Bialkowska K; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Blanco A; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Blomqvist C; Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
  • Boeckx B; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Bogdanova NV; Centro de Investigaci-n en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Bojesen SE; Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
  • Bolla MK; Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
  • Bonanni B; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
  • Borg A; Centro de Investigaci-n en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Brauch H; Fundaci-n Pœblica Galega Medicina Xen-mica, Santiago De Compostela, Spain.
  • Brenner H; Instituto de Investigacion Sanitaria de Santiago de Compostela, Santiago de Compostela, Spain.
  • Briceno I; Department of Oncology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
  • Broeks A; Department of Oncology, University Hospital, Karolinska Institute, Stockholm, Sweden.
  • Brüning T; VIB Center for Cancer Biology, VIB, Leuven, Belgium.
  • Burwinkel B; Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium.
  • Cai Q; Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
  • Caldés T; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
  • Caligo MA; NN Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
  • Campbell I; Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
  • Canisius S; Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
  • Campa D; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Carter BD; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Carter J; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy.
  • Castelao JE; Department of Oncology, Lund University and Skåne University Hospital, Lund, Sweden.
  • Chang-Claude J; Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Genet Epidemiol ; 44(5): 442-468, 2020 07.
Article in En | MEDLINE | ID: mdl-32115800
ABSTRACT
Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene expression data from GTEx and summary statistics from the hitherto largest GWAS meta-analysis conducted for breast cancer overall, and by estrogen receptor subtypes (ER+ and ER-). We further compared associations with ER+ and ER- subtypes, using a case-only TWAS approach. We also conducted multigene conditional analyses in regions with multiple TWAS associations. Two genes, STXBP4 and HIST2H2BA, were specifically associated with ER+ but not with ER- breast cancer. We further identified 30 TWAS-significant genes associated with overall breast cancer risk, including four that were not identified in previous studies. Conditional analyses identified single independent breast-cancer gene in three of six regions harboring multiple TWAS-significant genes. Our study provides new information on breast cancer genetics and biology, particularly about genomic differences between ER+ and ER- breast cancer.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Breast Neoplasms / Receptors, Estrogen / Genome-Wide Association Study Type of study: Etiology_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: Genet Epidemiol Journal subject: EPIDEMIOLOGIA / GENETICA MEDICA Year: 2020 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Breast Neoplasms / Receptors, Estrogen / Genome-Wide Association Study Type of study: Etiology_studies / Risk_factors_studies Limits: Female / Humans Language: En Journal: Genet Epidemiol Journal subject: EPIDEMIOLOGIA / GENETICA MEDICA Year: 2020 Document type: Article