Communications Biology (Oct 2022)
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
- Christopher Hakkaart,
- John F. Pearson,
- Louise Marquart,
- Joe Dennis,
- George A. R. Wiggins,
- Daniel R. Barnes,
- Bridget A. Robinson,
- Peter D. Mace,
- Kristiina Aittomäki,
- Irene L. Andrulis,
- Banu K. Arun,
- Jacopo Azzollini,
- Judith Balmaña,
- Rosa B. Barkardottir,
- Sami Belhadj,
- Lieke Berger,
- Marinus J. Blok,
- Susanne E. Boonen,
- Julika Borde,
- Angela R. Bradbury,
- Joan Brunet,
- Saundra S. Buys,
- Maria A. Caligo,
- Ian Campbell,
- Wendy K. Chung,
- Kathleen B. M. Claes,
- GEMO Study Collaborators,
- EMBRACE Collaborators,
- Marie-Agnès Collonge-Rame,
- Jackie Cook,
- Casey Cosgrove,
- Fergus J. Couch,
- Mary B. Daly,
- Sita Dandiker,
- Rosemarie Davidson,
- Miguel de la Hoya,
- Robin de Putter,
- Capucine Delnatte,
- Mallika Dhawan,
- Orland Diez,
- Yuan Chun Ding,
- Susan M. Domchek,
- Alan Donaldson,
- Jacqueline Eason,
- Douglas F. Easton,
- Hans Ehrencrona,
- Christoph Engel,
- D. Gareth Evans,
- Ulrike Faust,
- Lidia Feliubadaló,
- Florentia Fostira,
- Eitan Friedman,
- Megan Frone,
- Debra Frost,
- Judy Garber,
- Simon A. Gayther,
- Andrea Gehrig,
- Paul Gesta,
- Andrew K. Godwin,
- David E. Goldgar,
- Mark H. Greene,
- Eric Hahnen,
- Christopher R. Hake,
- Ute Hamann,
- Thomas V. O. Hansen,
- Jan Hauke,
- Julia Hentschel,
- Natalie Herold,
- Ellen Honisch,
- Peter J. Hulick,
- Evgeny N. Imyanitov,
- SWE-BRCA Investigators,
- kConFab Investigators,
- HEBON Investigators,
- Claudine Isaacs,
- Louise Izatt,
- Angel Izquierdo,
- Anna Jakubowska,
- Paul A. James,
- Ramunas Janavicius,
- Esther M. John,
- Vijai Joseph,
- Beth Y. Karlan,
- Zoe Kemp,
- Judy Kirk,
- Irene Konstantopoulou,
- Marco Koudijs,
- Ava Kwong,
- Yael Laitman,
- Fiona Lalloo,
- Christine Lasset,
- Charlotte Lautrup,
- Conxi Lazaro,
- Clémentine Legrand,
- Goska Leslie,
- Fabienne Lesueur,
- Phuong L. Mai,
- Siranoush Manoukian,
- Véronique Mari,
- John W. M. Martens,
- Lesley McGuffog,
- Noura Mebirouk,
- Alfons Meindl,
- Austin Miller,
- Marco Montagna,
- Lidia Moserle,
- Emmanuelle Mouret-Fourme,
- Hannah Musgrave,
- Sophie Nambot,
- Katherine L. Nathanson,
- Susan L. Neuhausen,
- Heli Nevanlinna,
- Joanne Ngeow Yuen Yie,
- Tu Nguyen-Dumont,
- Liene Nikitina-Zake,
- Kenneth Offit,
- Edith Olah,
- Olufunmilayo I. Olopade,
- Ana Osorio,
- Claus-Eric Ott,
- Sue K. Park,
- Michael T. Parsons,
- Inge Sokilde Pedersen,
- Ana Peixoto,
- Pedro Perez-Segura,
- Paolo Peterlongo,
- Timea Pocza,
- Paolo Radice,
- Juliane Ramser,
- Johanna Rantala,
- Gustavo C. Rodriguez,
- Karina Rønlund,
- Efraim H. Rosenberg,
- Maria Rossing,
- Rita K. Schmutzler,
- Payal D. Shah,
- Saba Sharif,
- Priyanka Sharma,
- Lucy E. Side,
- Jacques Simard,
- Christian F. Singer,
- Katie Snape,
- Doris Steinemann,
- Dominique Stoppa-Lyonnet,
- Christian Sutter,
- Yen Yen Tan,
- Manuel R. Teixeira,
- Soo Hwang Teo,
- Mads Thomassen,
- Darcy L. Thull,
- Marc Tischkowitz,
- Amanda E. Toland,
- Alison H. Trainer,
- Vishakha Tripathi,
- Nadine Tung,
- Klaartje van Engelen,
- Elizabeth J. van Rensburg,
- Ana Vega,
- Alessandra Viel,
- Lisa Walker,
- Jeffrey N. Weitzel,
- Marike R. Wevers,
- Georgia Chenevix-Trench,
- Amanda B. Spurdle,
- Antonis C. Antoniou,
- Logan C. Walker
Affiliations
- Christopher Hakkaart
- Department of Pathology and Biomedical Science, University of Otago
- John F. Pearson
- Department of Pathology and Biomedical Science, University of Otago
- Louise Marquart
- QIMR Berghofer Medical Research Institute
- Joe Dennis
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- George A. R. Wiggins
- Department of Pathology and Biomedical Science, University of Otago
- Daniel R. Barnes
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Bridget A. Robinson
- Department of Medicine, University of Otago
- Peter D. Mace
- Department of Biochemistry, School of Biomedical Sciences, University of Otago
- Kristiina Aittomäki
- Department of Medical and Clinical Genetics, University of Helsinki
- Irene L. Andrulis
- Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital
- Banu K. Arun
- Department of Breast Medical Oncology, University of Texas MD Anderson Cancer Center
- Jacopo Azzollini
- Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT)
- Judith Balmaña
- Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology, Vall d’Hebron Hospital Campus
- Rosa B. Barkardottir
- Department of Pathology, Landspitali University Hospital
- Sami Belhadj
- Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center
- Lieke Berger
- Department of Clinical Genetics, University of Groningen, University Medical Center Groningen
- Marinus J. Blok
- Department of Clinical Genetics, Maastricht University Medical Center
- Susanne E. Boonen
- Department of Clinical Genetics, Odense University Hospital
- Julika Borde
- Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne
- Angela R. Bradbury
- Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
- Joan Brunet
- Hereditary Cancer Program, Catalan Institute of Oncology (ICO), ONCOBELL-IDIBELL-IGTP, CIBERONC
- Saundra S. Buys
- Department of Medicine, Huntsman Cancer Institute
- Maria A. Caligo
- SOD Genetica Molecolare, University Hospital
- Ian Campbell
- Peter MacCallum Cancer Center
- Wendy K. Chung
- Departments of Pediatrics and Medicine, Columbia University
- Kathleen B. M. Claes
- Centre for Medical Genetics, Ghent University Hospital
- GEMO Study Collaborators
- EMBRACE Collaborators
- Marie-Agnès Collonge-Rame
- Service de Génétique Biologique, CHRU de Besançon
- Jackie Cook
- Sheffield Clinical Genetics Service, Sheffield Children’s Hospital
- Casey Cosgrove
- Gynecologic Oncology, Translational Therapeutics, Department of Obstetrics and Gynecology, Ohio State University Comprehensive Cancer Center
- Fergus J. Couch
- Department of Laboratory Medicine and Pathology, Mayo Clinic
- Mary B. Daly
- Department of Clinical Genetics, Fox Chase Cancer Center
- Sita Dandiker
- Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center
- Rosemarie Davidson
- Department of Clinical Genetics, Queen Elizabeth University Hospital
- Miguel de la Hoya
- Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
- Robin de Putter
- Centre for Medical Genetics, Ghent University Hospital
- Capucine Delnatte
- Oncogénétique, Institut de Cancérologie de l’Ouest siteRené Gauducheau
- Mallika Dhawan
- Cancer Genetics and Prevention Program, University of California San Francisco
- Orland Diez
- Hereditary cancer Genetics Group, Vall d’Hebron Institute of Oncology, Vall d’Hebron Hospital Campus
- Yuan Chun Ding
- Department of Population Sciences, Beckman Research Institute of City of Hope
- Susan M. Domchek
- Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania
- Alan Donaldson
- Clinical Genetics Department, St Michael’s Hospital
- Jacqueline Eason
- Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust
- Douglas F. Easton
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Hans Ehrencrona
- Department of Clinical Genetics and Pathology, Laboratory Medicine, Skåne University Hospital
- Christoph Engel
- Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig
- 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
- Ulrike Faust
- Institute of Medical Genetics and Applied Genomics, University of Tübingen
- Lidia Feliubadaló
- Hereditary Cancer Program, Catalan Institute of Oncology (ICO), ONCOBELL-IDIBELL-IGTP, CIBERONC
- Florentia Fostira
- Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research ‘Demokritos’
- Eitan Friedman
- The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center
- Megan Frone
- Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute
- Debra Frost
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Judy Garber
- Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute
- Simon A. Gayther
- Center for Bioinformatics and Functional Genomics and the Cedars Sinai Genomics Core, Cedars-Sinai Medical Center
- Andrea Gehrig
- Department of Human Genetics, University Würzburg
- Paul Gesta
- Service Régional Oncogénétique Poitou-Charentes, CH Niort
- Andrew K. Godwin
- Department of Pathology and Laboratory Medicine, University of Kansas Medical Center
- David E. Goldgar
- Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine
- Mark H. Greene
- Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute
- Eric Hahnen
- Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne
- Christopher R. Hake
- Waukesha Memorial Hospital-Pro Health Care
- Ute Hamann
- Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ)
- Thomas V. O. Hansen
- Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital
- Jan Hauke
- Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne
- Julia Hentschel
- Institute of Human Genetics, University Hospital Leipzig
- Natalie Herold
- Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne
- Ellen Honisch
- Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf
- Peter J. Hulick
- Center for Medical Genetics, NorthShore University HealthSystem
- Evgeny N. Imyanitov
- N.N. Petrov Institute of Oncology
- SWE-BRCA Investigators
- kConFab Investigators
- HEBON Investigators
- Claudine Isaacs
- Lombardi Comprehensive Cancer Center, Georgetown University
- Louise Izatt
- Clinical Genetics, Guy’s and St Thomas’ NHS Foundation Trust
- Angel Izquierdo
- Hereditary Cancer Program, Catalan Institute of Oncology (ICO), ONCOBELL-IDIBELL-IGTP, CIBERONC
- Anna Jakubowska
- Department of Genetics and Pathology, Pomeranian Medical University
- Paul A. James
- Sir Peter MacCallum Department of Oncology, The University of Melbourne
- Ramunas Janavicius
- Faculty of Medicine, Institute of Biomedical Sciences, Dept. Of Human and Medical Genetics, Vilnius University
- Esther M. John
- Department of Epidemiology & Population Health, Stanford University School of Medicine
- Vijai Joseph
- Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center
- Beth Y. Karlan
- David Geffen School of Medicine, Department of Obstetrics and Gynecology, University of California at Los Angeles
- Zoe Kemp
- Breast and Cancer Genetics Units, The Royal Marsden NHS Foundation Trust
- Judy Kirk
- Familial Cancer Service, Weatmead Hospital
- Irene Konstantopoulou
- Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research ‘Demokritos’
- Marco Koudijs
- Department of Medical Genetics, University Medical Center
- Ava Kwong
- Hong Kong Hereditary Breast Cancer Family Registry
- Yael Laitman
- The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center
- Fiona Lalloo
- Department of Population Health Sciences, Weill Cornell Medicine
- Christine Lasset
- Unité de Prévention et d’Epidémiologie Génétique, Centre Léon Bérard
- Charlotte Lautrup
- Department of Clinical Genetics, Aarhus University Hospital
- Conxi Lazaro
- Hereditary Cancer Program, Catalan Institute of Oncology (ICO), ONCOBELL-IDIBELL-IGTP, CIBERONC
- Clémentine Legrand
- Département de Génétique, CHU de Grenoble
- Goska Leslie
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Fabienne Lesueur
- Genetic Epidemiology of Cancer team
- Phuong L. Mai
- Magee-Womens Hospital, University of Pittsburgh School of Medicine
- Siranoush Manoukian
- Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT)
- Véronique Mari
- Département d’Hématologie-Oncologie Médicale, Centre Antoine Lacassagne
- John W. M. Martens
- Department of Medical Oncology, Erasmus MC Cancer Institute
- Lesley McGuffog
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Noura Mebirouk
- Genetic Epidemiology of Cancer team
- Alfons Meindl
- Department of Gynecology and Obstetrics, University of Munich, Campus Großhadern
- Austin Miller
- NRG Oncology, Statistics and Data Management Center, Roswell Park Comprehensive Cancer Center
- Marco Montagna
- Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS
- Lidia Moserle
- Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS
- Emmanuelle Mouret-Fourme
- Service de Génétique, Institut Curie
- Hannah Musgrave
- Department of Clinical Genetics, Yorkshire Regional Genetics Service, Chapel Allerton Hospital
- Sophie Nambot
- Unité d’oncogénétique, Centre de Lutte Contre le Cancer, Centre Georges-François Leclerc
- Katherine L. Nathanson
- Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania
- Susan L. Neuhausen
- Department of Population Sciences, Beckman Research Institute of City of Hope
- Heli Nevanlinna
- Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki
- Joanne Ngeow Yuen Yie
- Lee Kong Chian School of Medicine, Nanyang Technological University
- Tu Nguyen-Dumont
- Precision Medicine, School of Clinical Sciences at Monash Health, Monash University
- Liene Nikitina-Zake
- Latvian Biomedical Research and Study Centre
- Kenneth Offit
- Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center
- Edith Olah
- Department of Molecular Genetics, National Institute of Oncology
- Olufunmilayo I. Olopade
- Center for Clinical Cancer Genetics, The University of Chicago
- Ana Osorio
- Familial Cancer Clinical Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO) and Spanish Network on Rare Diseases (CIBERER)
- Claus-Eric Ott
- Institute of Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health
- Sue K. Park
- Department of Preventive Medicine, Seoul National University College of Medicine
- Michael T. Parsons
- Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute
- Inge Sokilde Pedersen
- Molecular Diagnostics, Aalborg University Hospital
- Ana Peixoto
- Department of Genetics, Portuguese Oncology Institute
- Pedro Perez-Segura
- Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos)
- Paolo Peterlongo
- Genome Diagnostics Program, IFOM ETS - the AIRC Institute of Molecular Oncology
- Timea Pocza
- Department of Molecular Genetics, National Institute of Oncology
- Paolo Radice
- Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT)
- Juliane Ramser
- Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen Universität München
- Johanna Rantala
- Clinical Genetics, Karolinska Institutet
- Gustavo C. Rodriguez
- Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago
- Karina Rønlund
- Department of Clinical Genetics, University Hospital of Southern Denmark, Vejle Hospital
- Efraim H. Rosenberg
- Department of Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital
- Maria Rossing
- Center for Genomic Medicine, Rigshospitalet
- Rita K. Schmutzler
- Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne
- Payal D. Shah
- Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania
- Saba Sharif
- West Midlands Regional Genetics Service, Birmingham Women’s Hospital Healthcare NHS Trust
- Priyanka Sharma
- Department of Internal Medicine, Division of Medical Oncology, University of Kansas Medical Center
- Lucy E. Side
- Princess Anne Hospital
- Jacques Simard
- Genomics Center, Centre Hospitalier Universitaire de Québec – Université Laval Research Center
- Christian F. Singer
- Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna
- Katie Snape
- Medical Genetics Unit, St George’s, University of London
- Doris Steinemann
- Institute of Human Genetics, Hannover Medical School
- Dominique Stoppa-Lyonnet
- Service de Génétique, Institut Curie
- Christian Sutter
- Institute of Human Genetics, University Hospital Heidelberg
- Yen Yen Tan
- Dept of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna
- Manuel R. Teixeira
- Department of Genetics, Portuguese Oncology Institute
- Soo Hwang Teo
- Breast Cancer Research Programme, Cancer Research Malaysia
- Mads Thomassen
- Department of Clinical Genetics, Odense University Hospital
- Darcy L. Thull
- Department of Medicine, Magee-Womens Hospital, University of Pittsburgh School of Medicine
- Marc Tischkowitz
- Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University
- Amanda E. Toland
- Department of Cancer Biology and Genetics, The Ohio State University
- Alison H. Trainer
- Parkville Familial Cancer Centre, Peter MacCallum Cancer Center
- Vishakha Tripathi
- South East Thames Regional Genetics Service, Guy’s and St Thomas’ NHS Foundation Trust
- Nadine Tung
- Department of Medical Oncology, Beth Israel Deaconess Medical Center
- Klaartje van Engelen
- Department of Clinical Genetics, VU University Medical Center
- Elizabeth J. van Rensburg
- Department of Genetics, University of Pretoria
- Ana Vega
- Centro de Investigación en Red de Enfermedades Raras (CIBERER)
- Alessandra Viel
- Division of Functional onco-genomics and genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS
- Lisa Walker
- Oxford Regional Genetics Service, Churchill Hospital
- Jeffrey N. Weitzel
- Latin American School of Oncology, Tuxtla Gutiérrez
- Marike R. Wevers
- Radboud University Medical Center
- Georgia Chenevix-Trench
- Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute
- Amanda B. Spurdle
- Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute
- Antonis C. Antoniou
- Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge
- Logan C. Walker
- Department of Pathology and Biomedical Science, University of Otago
- DOI
- https://doi.org/10.1038/s42003-022-03978-6
- Journal volume & issue
-
Vol. 5,
no. 1
pp. 1 – 15
Abstract
The risk of germline copy number variants (CNVs) in BRCA1 and BRCA2 pathogenic variant carriers in breast cancer is assessed, with CNVs overlapping SULT1A1 decreasing breast cancer risk in BRCA1 carriers.
