Communications Biology (Jan 2022)
Rare germline copy number variants (CNVs) and breast cancer risk
- Joe Dennis,
- Jonathan P. Tyrer,
- Logan C. Walker,
- Kyriaki Michailidou,
- Leila Dorling,
- Manjeet K. Bolla,
- Qin Wang,
- Thomas U. Ahearn,
- Irene L. Andrulis,
- Hoda Anton-Culver,
- Natalia N. Antonenkova,
- Volker Arndt,
- Kristan J. Aronson,
- Laura E. Beane Freeman,
- Matthias W. Beckmann,
- Sabine Behrens,
- Javier Benitez,
- Marina Bermisheva,
- Natalia V. Bogdanova,
- Stig E. Bojesen,
- Hermann Brenner,
- Jose E. Castelao,
- Jenny Chang-Claude,
- Georgia Chenevix-Trench,
- Christine L. Clarke,
- NBCS Collaborators,
- J. Margriet Collée,
- CTS Consortium,
- Fergus J. Couch,
- Angela Cox,
- Simon S. Cross,
- Kamila Czene,
- Peter Devilee,
- Thilo Dörk,
- Laure Dossus,
- A. Heather Eliassen,
- Mikael Eriksson,
- D. Gareth Evans,
- Peter A. Fasching,
- Jonine Figueroa,
- Olivia Fletcher,
- Henrik Flyger,
- Lin Fritschi,
- Marike Gabrielson,
- Manuela Gago-Dominguez,
- Montserrat García-Closas,
- Graham G. Giles,
- Anna González-Neira,
- Pascal Guénel,
- Eric Hahnen,
- Christopher A. Haiman,
- Per Hall,
- Antoinette Hollestelle,
- Reiner Hoppe,
- John L. Hopper,
- Anthony Howell,
- ABCTB Investigators,
- kConFab/AOCS Investigators,
- Agnes Jager,
- Anna Jakubowska,
- Esther M. John,
- Nichola Johnson,
- Michael E. Jones,
- Audrey Jung,
- Rudolf Kaaks,
- Renske Keeman,
- Elza Khusnutdinova,
- Cari M. Kitahara,
- Yon-Dschun Ko,
- Veli-Matti Kosma,
- Stella Koutros,
- Peter Kraft,
- Vessela N. Kristensen,
- Katerina Kubelka-Sabit,
- Allison W. Kurian,
- James V. Lacey,
- Diether Lambrechts,
- Nicole L. Larson,
- Martha Linet,
- Alicja Ogrodniczak,
- Arto Mannermaa,
- Siranoush Manoukian,
- Sara Margolin,
- Dimitrios Mavroudis,
- Roger L. Milne,
- Taru A. Muranen,
- Rachel A. Murphy,
- Heli Nevanlinna,
- Janet E. Olson,
- Håkan Olsson,
- Tjoung-Won Park-Simon,
- Charles M. Perou,
- Paolo Peterlongo,
- Dijana Plaseska-Karanfilska,
- Katri Pylkäs,
- Gad Rennert,
- Emmanouil Saloustros,
- Dale P. Sandler,
- Elinor J. Sawyer,
- Marjanka K. Schmidt,
- Rita K. Schmutzler,
- Rana Shibli,
- Ann Smeets,
- Penny Soucy,
- Melissa C. Southey,
- Anthony J. Swerdlow,
- Rulla M. Tamimi,
- Jack A. Taylor,
- Lauren R. Teras,
- Mary Beth Terry,
- Ian Tomlinson,
- Melissa A. Troester,
- Thérèse Truong,
- Celine M. Vachon,
- Camilla Wendt,
- Robert Winqvist,
- Alicja Wolk,
- Xiaohong R. Yang,
- Wei Zheng,
- Argyrios Ziogas,
- Jacques Simard,
- Alison M. Dunning,
- Paul D. P. Pharoah,
- Douglas F. Easton
Affiliations
- Joe Dennis
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Jonathan P. Tyrer
- Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge
- Logan C. Walker
- Department of Pathology and Biomedical Science, University of Otago
- Kyriaki Michailidou
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Leila Dorling
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Manjeet K. Bolla
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Qin Wang
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Thomas U. Ahearn
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services
- Irene L. Andrulis
- Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital
- Hoda Anton-Culver
- Department of Medicine, Genetic Epidemiology Research Institute, University of California Irvine
- Natalia N. Antonenkova
- N.N. Alexandrov Research Institute of Oncology and Medical Radiology
- Volker Arndt
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)
- Kristan J. Aronson
- Department of Public Health Sciences, and Cancer Research Institute, Queen’s University
- Laura E. Beane Freeman
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services
- Matthias W. Beckmann
- Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU)
- Sabine Behrens
- Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)
- Javier Benitez
- Biomedical Network on Rare Diseases (CIBERER)
- Marina Bermisheva
- Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences
- Natalia V. Bogdanova
- N.N. Alexandrov Research Institute of Oncology and Medical Radiology
- Stig E. Bojesen
- Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital
- Hermann Brenner
- Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)
- Jose E. Castelao
- Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS
- Jenny Chang-Claude
- Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)
- Georgia Chenevix-Trench
- Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute
- Christine L. Clarke
- Westmead Institute for Medical Research, University of Sydney
- NBCS Collaborators
- J. Margriet Collée
- Department of Clinical Genetics, Erasmus University Medical Center
- CTS Consortium
- Fergus J. Couch
- Department of Laboratory Medicine and Pathology, Mayo Clinic
- Angela Cox
- Sheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield
- Simon S. Cross
- Academic Unit of Pathology, Department of Neuroscience, University of Sheffield
- Kamila Czene
- Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
- Peter Devilee
- Department of Pathology, Leiden University Medical Center
- Thilo Dörk
- Gynaecology Research Unit, Hannover Medical School
- Laure Dossus
- Nutrition and Metabolism Section, International Agency for Research on Cancer (IARC-WHO)
- A. Heather Eliassen
- Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School
- Mikael Eriksson
- Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
- D. Gareth Evans
- Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre
- Peter A. Fasching
- Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU)
- Jonine Figueroa
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services
- Olivia Fletcher
- The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research
- Henrik Flyger
- Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital
- Lin Fritschi
- School of Public Health, Curtin University
- Marike Gabrielson
- Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
- Manuela Gago-Dominguez
- Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS
- Montserrat García-Closas
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services
- Graham G. Giles
- Cancer Epidemiology Division, Cancer Council Victoria, Melbourne
- Anna González-Neira
- Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO)
- Pascal Guénel
- Center for Research in Epidemiology and Population Health (CESP), Team Exposome and Heredity, INSERM, University Paris-Saclay
- Eric Hahnen
- Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne
- Christopher A. Haiman
- Department of Preventive Medicine, Keck School of Medicine, University of Southern California
- Per Hall
- Department of Medical Epidemiology and Biostatistics, Karolinska Institutet
- Antoinette Hollestelle
- Department of Medical Oncology, Erasmus MC Cancer Institute
- Reiner Hoppe
- Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology
- John L. Hopper
- Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne
- Anthony Howell
- Division of Cancer Sciences, University of Manchester
- ABCTB Investigators
- kConFab/AOCS Investigators
- Agnes Jager
- Department of Medical Oncology, Erasmus MC Cancer Institute
- Anna Jakubowska
- Department of Genetics and Pathology, Pomeranian Medical University
- Esther M. John
- Department of Epidemiology & Population Health, Stanford University School of Medicine
- Nichola Johnson
- The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research
- Michael E. Jones
- Division of Genetics and Epidemiology, The Institute of Cancer Research
- Audrey Jung
- Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)
- Rudolf Kaaks
- Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)
- Renske Keeman
- Division of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital
- Elza Khusnutdinova
- Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences
- Cari M. Kitahara
- Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute
- Yon-Dschun Ko
- Department of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter Krankenhaus
- Veli-Matti Kosma
- Translational Cancer Research Area, University of Eastern Finland
- Stella Koutros
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services
- Peter Kraft
- Department of Epidemiology, Harvard T.H. Chan School of Public Health
- Vessela N. Kristensen
- Department of Medical Genetics, Oslo University Hospital and University of Oslo
- Katerina Kubelka-Sabit
- Department of Histopathology and Cytology, Clinical Hospital Acibadem Sistina
- Allison W. Kurian
- Department of Epidemiology & Population Health, Stanford University School of Medicine
- James V. Lacey
- Department of Computational and Quantitative Medicine, City of Hope
- Diether Lambrechts
- VIB Center for Cancer Biology
- Nicole L. Larson
- Department of Health Sciences Research, Mayo Clinic
- Martha Linet
- Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute
- Alicja Ogrodniczak
- Department of Genetics and Pathology, Pomeranian Medical University
- Arto Mannermaa
- Translational Cancer Research Area, University of Eastern Finland
- Siranoush Manoukian
- Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano
- Sara Margolin
- Department of Oncology, Södersjukhuset
- Dimitrios Mavroudis
- Department of Medical Oncology, University Hospital of Heraklion
- Roger L. Milne
- Cancer Epidemiology Division, Cancer Council Victoria, Melbourne
- Taru A. Muranen
- Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki
- Rachel A. Murphy
- School of Population and Public Health, University of British Columbia
- Heli Nevanlinna
- Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki
- Janet E. Olson
- Department of Health Sciences Research, Mayo Clinic
- Håkan Olsson
- Department of Cancer Epidemiology, Clinical Sciences, Lund University
- Tjoung-Won Park-Simon
- Gynaecology Research Unit, Hannover Medical School
- Charles M. Perou
- Department of Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill
- Paolo Peterlongo
- Genome Diagnostics Program, IFOM - the FIRC Institute of Molecular Oncology
- Dijana Plaseska-Karanfilska
- Research Centre for Genetic Engineering and Biotechnology ‘Georgi D. Efremov’, MASA
- Katri Pylkäs
- Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu
- Gad Rennert
- Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine
- Emmanouil Saloustros
- Department of Oncology, University Hospital of Larissa
- Dale P. Sandler
- Epidemiology Branch, National Institute of Environmental Health Sciences, NIH
- Elinor J. Sawyer
- School of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy’s Campus, King’s College London
- Marjanka K. Schmidt
- Division of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital
- Rita K. Schmutzler
- Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne
- Rana Shibli
- Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine
- Ann Smeets
- Department of Surgical Oncology, University Hospitals Leuven
- Penny Soucy
- Genomics Center, Centre Hospitalier Universitaire de Québec – Université Laval Research Center
- Melissa C. Southey
- Cancer Epidemiology Division, Cancer Council Victoria, Melbourne
- Anthony J. Swerdlow
- Division of Genetics and Epidemiology, The Institute of Cancer Research
- Rulla M. Tamimi
- Department of Epidemiology, Harvard T.H. Chan School of Public Health
- Jack A. Taylor
- Epidemiology Branch, National Institute of Environmental Health Sciences, NIH
- Lauren R. Teras
- Department of Population Science, American Cancer Society
- Mary Beth Terry
- Department of Epidemiology, Mailman School of Public Health, Columbia University
- Ian Tomlinson
- Cancer Research UK Edinburgh Centre, The University of Edinburgh
- Melissa A. Troester
- Department of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill
- Thérèse Truong
- Center for Research in Epidemiology and Population Health (CESP), Team Exposome and Heredity, INSERM, University Paris-Saclay
- Celine M. Vachon
- Department of Quantitative Health Sciences, Division of Epidemiology, Mayo Clinic
- Camilla Wendt
- Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet
- Robert Winqvist
- Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu
- Alicja Wolk
- Institute of Environmental Medicine, Karolinska Institutet
- Xiaohong R. Yang
- Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services
- Wei Zheng
- Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine
- Argyrios Ziogas
- Department of Medicine, Genetic Epidemiology Research Institute, University of California Irvine
- Jacques Simard
- Genomics Center, Centre Hospitalier Universitaire de Québec – Université Laval Research Center
- Alison M. Dunning
- Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge
- Paul D. P. Pharoah
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Douglas F. Easton
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- DOI
- https://doi.org/10.1038/s42003-021-02990-6
- Journal volume & issue
-
Vol. 5,
no. 1
pp. 1 – 15
Abstract
Dennis et al. investigate potential breast cancer associations with rare germline copy number variants (CNVs) by conducting a genome-wide analysis in a large breast cancer case-control dataset. The authors detected associations with exonic deletions in established breast cancer susceptibility genes and suggestive associations for a number of non-coding CNVs.
