Rare germline copy number variants (CNVs) and breast cancer risk
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...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-01-01
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| Series: | Communications Biology |
| Online Access: | https://doi.org/10.1038/s42003-021-02990-6 |
| _version_ | 1819260956987883520 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Joe Dennis |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-23T19:34:09Z |
| format | Article |
| id | doaj.art-044fc84d25dc438288747cb026a6d8b0 |
| institution | Directory Open Access Journal |
| issn | 2399-3642 |
| language | English |
| last_indexed | 2024-12-23T19:34:09Z |
| publishDate | 2022-01-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Communications Biology |
| spelling | doaj.art-044fc84d25dc438288747cb026a6d8b02022-12-21T17:33:49ZengNature PortfolioCommunications Biology2399-36422022-01-015111510.1038/s42003-021-02990-6Rare germline copy number variants (CNVs) and breast cancer riskJoe Dennis0Jonathan P. Tyrer1Logan C. Walker2Kyriaki Michailidou3Leila Dorling4Manjeet K. Bolla5Qin Wang6Thomas U. Ahearn7Irene L. Andrulis8Hoda Anton-Culver9Natalia N. Antonenkova10Volker Arndt11Kristan J. Aronson12Laura E. Beane Freeman13Matthias W. Beckmann14Sabine Behrens15Javier Benitez16Marina Bermisheva17Natalia V. Bogdanova18Stig E. Bojesen19Hermann Brenner20Jose E. Castelao21Jenny Chang-Claude22Georgia Chenevix-Trench23Christine L. Clarke24NBCS CollaboratorsJ. Margriet Collée25CTS ConsortiumFergus J. Couch26Angela Cox27Simon S. Cross28Kamila Czene29Peter Devilee30Thilo Dörk31Laure Dossus32A. Heather Eliassen33Mikael Eriksson34D. Gareth Evans35Peter A. Fasching36Jonine Figueroa37Olivia Fletcher38Henrik Flyger39Lin Fritschi40Marike Gabrielson41Manuela Gago-Dominguez42Montserrat García-Closas43Graham G. Giles44Anna González-Neira45Pascal Guénel46Eric Hahnen47Christopher A. Haiman48Per Hall49Antoinette Hollestelle50Reiner Hoppe51John L. Hopper52Anthony Howell53ABCTB InvestigatorskConFab/AOCS InvestigatorsAgnes Jager54Anna Jakubowska55Esther M. John56Nichola Johnson57Michael E. Jones58Audrey Jung59Rudolf Kaaks60Renske Keeman61Elza Khusnutdinova62Cari M. Kitahara63Yon-Dschun Ko64Veli-Matti Kosma65Stella Koutros66Peter Kraft67Vessela N. Kristensen68Katerina Kubelka-Sabit69Allison W. Kurian70James V. Lacey71Diether Lambrechts72Nicole L. Larson73Martha Linet74Alicja Ogrodniczak75Arto Mannermaa76Siranoush Manoukian77Sara Margolin78Dimitrios Mavroudis79Roger L. Milne80Taru A. Muranen81Rachel A. Murphy82Heli Nevanlinna83Janet E. Olson84Håkan Olsson85Tjoung-Won Park-Simon86Charles M. Perou87Paolo Peterlongo88Dijana Plaseska-Karanfilska89Katri Pylkäs90Gad Rennert91Emmanouil Saloustros92Dale P. Sandler93Elinor J. Sawyer94Marjanka K. Schmidt95Rita K. Schmutzler96Rana Shibli97Ann Smeets98Penny Soucy99Melissa C. Southey100Anthony J. Swerdlow101Rulla M. Tamimi102Jack A. Taylor103Lauren R. Teras104Mary Beth Terry105Ian Tomlinson106Melissa A. Troester107Thérèse Truong108Celine M. Vachon109Camilla Wendt110Robert Winqvist111Alicja Wolk112Xiaohong R. Yang113Wei Zheng114Argyrios Ziogas115Jacques Simard116Alison M. Dunning117Paul D. P. Pharoah118Douglas F. Easton119Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of CambridgeCentre for Cancer Genetic Epidemiology, Department of Oncology, University of CambridgeDepartment of Pathology and Biomedical Science, University of OtagoCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of CambridgeCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of CambridgeCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of CambridgeCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of CambridgeDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human ServicesFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai HospitalDepartment of Medicine, Genetic Epidemiology Research Institute, University of California IrvineN.N. Alexandrov Research Institute of Oncology and Medical RadiologyDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)Department of Public Health Sciences, and Cancer Research Institute, Queen’s UniversityDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human ServicesDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU)Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)Biomedical Network on Rare Diseases (CIBERER)Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of SciencesN.N. Alexandrov Research Institute of Oncology and Medical RadiologyCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University HospitalDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ)Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGASDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ)Department of Genetics and Computational Biology, QIMR Berghofer Medical Research InstituteWestmead Institute for Medical Research, University of SydneyDepartment of Clinical Genetics, Erasmus University Medical CenterDepartment of Laboratory Medicine and Pathology, Mayo ClinicSheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of SheffieldAcademic Unit of Pathology, Department of Neuroscience, University of SheffieldDepartment of Medical Epidemiology and Biostatistics, Karolinska InstitutetDepartment of Pathology, Leiden University Medical CenterGynaecology Research Unit, Hannover Medical SchoolNutrition and Metabolism Section, International Agency for Research on Cancer (IARC-WHO)Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical SchoolDepartment of Medical Epidemiology and Biostatistics, Karolinska InstitutetDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science CentreDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU)Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human ServicesThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer ResearchDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University HospitalSchool of Public Health, Curtin UniversityDepartment of Medical Epidemiology and Biostatistics, Karolinska InstitutetFundación Pública Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGASDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human ServicesCancer Epidemiology Division, Cancer Council Victoria, MelbourneHuman Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO)Center for Research in Epidemiology and Population Health (CESP), Team Exposome and Heredity, INSERM, University Paris-SaclayCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of CologneDepartment of Preventive Medicine, Keck School of Medicine, University of Southern CaliforniaDepartment of Medical Epidemiology and Biostatistics, Karolinska InstitutetDepartment of Medical Oncology, Erasmus MC Cancer InstituteDr. Margarete Fischer-Bosch-Institute of Clinical PharmacologyCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of MelbourneDivision of Cancer Sciences, University of ManchesterDepartment of Medical Oncology, Erasmus MC Cancer InstituteDepartment of Genetics and Pathology, Pomeranian Medical UniversityDepartment of Epidemiology & Population Health, Stanford University School of MedicineThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer ResearchDivision of Genetics and Epidemiology, The Institute of Cancer ResearchDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ)Division of Cancer Epidemiology, German Cancer Research Center (DKFZ)Division of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek HospitalInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of SciencesRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer InstituteDepartment of Internal Medicine, Evangelische Kliniken Bonn gGmbH, Johanniter KrankenhausTranslational Cancer Research Area, University of Eastern FinlandDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human ServicesDepartment of Epidemiology, Harvard T.H. Chan School of Public HealthDepartment of Medical Genetics, Oslo University Hospital and University of OsloDepartment of Histopathology and Cytology, Clinical Hospital Acibadem SistinaDepartment of Epidemiology & Population Health, Stanford University School of MedicineDepartment of Computational and Quantitative Medicine, City of HopeVIB Center for Cancer BiologyDepartment of Health Sciences Research, Mayo ClinicRadiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer InstituteDepartment of Genetics and Pathology, Pomeranian Medical UniversityTranslational Cancer Research Area, University of Eastern FinlandUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di MilanoDepartment of Oncology, SödersjukhusetDepartment of Medical Oncology, University Hospital of HeraklionCancer Epidemiology Division, Cancer Council Victoria, MelbourneDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of HelsinkiSchool of Population and Public Health, University of British ColumbiaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of HelsinkiDepartment of Health Sciences Research, Mayo ClinicDepartment of Cancer Epidemiology, Clinical Sciences, Lund UniversityGynaecology Research Unit, Hannover Medical SchoolDepartment of Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel HillGenome Diagnostics Program, IFOM - the FIRC Institute of Molecular OncologyResearch Centre for Genetic Engineering and Biotechnology ‘Georgi D. Efremov’, MASALaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of OuluClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of MedicineDepartment of Oncology, University Hospital of LarissaEpidemiology Branch, National Institute of Environmental Health Sciences, NIHSchool of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy’s Campus, King’s College LondonDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek HospitalCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of CologneClalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of MedicineDepartment of Surgical Oncology, University Hospitals LeuvenGenomics Center, Centre Hospitalier Universitaire de Québec – Université Laval Research CenterCancer Epidemiology Division, Cancer Council Victoria, MelbourneDivision of Genetics and Epidemiology, The Institute of Cancer ResearchDepartment of Epidemiology, Harvard T.H. Chan School of Public HealthEpidemiology Branch, National Institute of Environmental Health Sciences, NIHDepartment of Population Science, American Cancer SocietyDepartment of Epidemiology, Mailman School of Public Health, Columbia UniversityCancer Research UK Edinburgh Centre, The University of EdinburghDepartment of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel HillCenter for Research in Epidemiology and Population Health (CESP), Team Exposome and Heredity, INSERM, University Paris-SaclayDepartment of Quantitative Health Sciences, Division of Epidemiology, Mayo ClinicDepartment of Clinical Science and Education, Södersjukhuset, Karolinska InstitutetLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of OuluInstitute of Environmental Medicine, Karolinska InstitutetDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human ServicesDivision of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of MedicineDepartment of Medicine, Genetic Epidemiology Research Institute, University of California IrvineGenomics Center, Centre Hospitalier Universitaire de Québec – Université Laval Research CenterCentre for Cancer Genetic Epidemiology, Department of Oncology, University of CambridgeCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of CambridgeCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of CambridgeDennis 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.https://doi.org/10.1038/s42003-021-02990-6 |
| spellingShingle | 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 Rare germline copy number variants (CNVs) and breast cancer risk Communications Biology |
| title | Rare germline copy number variants (CNVs) and breast cancer risk |
| title_full | Rare germline copy number variants (CNVs) and breast cancer risk |
| title_fullStr | Rare germline copy number variants (CNVs) and breast cancer risk |
| title_full_unstemmed | Rare germline copy number variants (CNVs) and breast cancer risk |
| title_short | Rare germline copy number variants (CNVs) and breast cancer risk |
| title_sort | rare germline copy number variants cnvs and breast cancer risk |
| url | https://doi.org/10.1038/s42003-021-02990-6 |
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douglasfeaston raregermlinecopynumbervariantscnvsandbreastcancerrisk |