Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis.


Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
05 10 2021
Historique:
received: 28 03 2021
accepted: 07 09 2021
entrez: 6 10 2021
pubmed: 7 10 2021
medline: 28 12 2021
Statut: epublish

Résumé

Breast cancer metastasis accounts for most of the deaths from breast cancer. Identification of germline variants associated with survival in aggressive types of breast cancer may inform understanding of breast cancer progression and assist treatment. In this analysis, we studied the associations between germline variants and breast cancer survival for patients with distant metastases at primary breast cancer diagnosis. We used data from the Breast Cancer Association Consortium (BCAC) including 1062 women of European ancestry with metastatic breast cancer, 606 of whom died of breast cancer. We identified two germline variants on chromosome 1, rs138569520 and rs146023652, significantly associated with breast cancer-specific survival (P = 3.19 × 10

Identifiants

pubmed: 34611289
doi: 10.1038/s41598-021-99409-3
pii: 10.1038/s41598-021-99409-3
pmc: PMC8492709
doi:

Substances chimiques

Biomarkers, Tumor 0

Types de publication

Journal Article Meta-Analysis Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

19787

Subventions

Organisme : NCI NIH HHS
ID : U19 CA148112
Pays : United States
Organisme : Cancer Research UK
ID : 29186
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : R01 CA097396
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA128978
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA054281
Pays : United States
Organisme : Medical Research Council
ID : MR/N003284/1
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P50 CA058223
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA192393
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA176785
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA098758
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA063464
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA132839
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA177150
Pays : United States
Organisme : Medical Research Council
ID : G0401527
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : U19 CA148065
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA164973
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA116201
Pays : United States
Organisme : Medical Research Council
ID : MR/M012190/1
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P30 CA015083
Pays : United States
Organisme : Medical Research Council
ID : G1000143
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : P01 CA087969
Pays : United States
Organisme : NCI NIH HHS
ID : U54 CA156733
Pays : United States
Organisme : NCI NIH HHS
ID : R35 CA253187
Pays : United States
Organisme : Cancer Research UK
ID : 14136
Pays : United Kingdom
Organisme : NCI NIH HHS
ID : UM1 CA176726
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA186107
Pays : United States
Organisme : NCI NIH HHS
ID : UM1 CA164920
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA179715
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA140286
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA116167
Pays : United States
Organisme : NCI NIH HHS
ID : U19 CA148537
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA128931
Pays : United States

Informations de copyright

© 2021. The Author(s).

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Auteurs

Maria Escala-Garcia (M)

Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni Van Leeuwenhoek Hospital, Amsterdam, The Netherlands.

Sander Canisius (S)

Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni Van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Division of Molecular Carcinogenesis, The Netherlands Cancer Institute-Antoni Van Leeuwenhoek Hospital, Amsterdam, The Netherlands.

Renske Keeman (R)

Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni Van Leeuwenhoek Hospital, Amsterdam, The Netherlands.

Jonathan Beesley (J)

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

Hoda Anton-Culver (H)

Department of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.

Volker Arndt (V)

Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Annelie Augustinsson (A)

Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.

Heiko Becher (H)

Institute of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Matthias W Beckmann (MW)

Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.

Sabine Behrens (S)

Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Marina Bermisheva (M)

Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.

Stig E Bojesen (SE)

Copenhagen University Hospital, Copenhagen General Population Study, Herlev, Denmark.
Gentofte Hospital, Herlev, Denmark.
Department of Clinical Biochemistry, Copenhagen University Hospital, Herlev, Denmark.
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Manjeet K Bolla (MK)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.

Hermann Brenner (H)

Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.

Federico Canzian (F)

Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Jose E Castelao (JE)

Instituto de Investigación Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Oncology and Genetics Unit, Vigo, Spain.

Jenny Chang-Claude (J)

Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
University Medical Center Hamburg-Eppendorf, Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), Hamburg, Germany.

Stephen J Chanock (SJ)

Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

Fergus J Couch (FJ)

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Kamila Czene (K)

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

Mary B Daly (MB)

Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA.

Joe Dennis (J)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.

Peter Devilee (P)

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Thilo Dörk (T)

Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.

Alison M Dunning (AM)

Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.

Douglas F Easton (DF)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.

Arif B Ekici (AB)

Institute of Human Genetics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.

A Heather Eliassen (AH)

Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.

Peter A Fasching (PA)

Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.
Division of Hematology and Oncology, Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, USA.

Henrik Flyger (H)

Department of Breast Surgery, Copenhagen University Hospital, Herlev, Denmark.

Manuela Gago-Dominguez (M)

Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.
Moores Cancer Center, University of California San Diego, La Jolla, CA, USA.

Montserrat García-Closas (M)

Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

José A García-Sáenz (JA)

Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Medical Oncology Department, Hospital Clínico San Carlos, Madrid, Spain.

Jürgen Geisler (J)

Department of Oncology, Akershus University Hospital, Lørenskog, Norway.

Graham G Giles (GG)

Cancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC, Australia.
Melbourne School of Population and Global Health, Centre for Epidemiology and Biostatistics, The University of Melbourne, Melbourne, VIC, Australia.
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.

Mervi Grip (M)

Department of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland.

Melanie Gündert (M)

German Cancer Research Center (DKFZ), Molecular Epidemiology Group, C080, Heidelberg, Germany.
Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany.
Helmholtz Zentrum München, Institute of Diabetes Research, German Research Center for Environmental Health, Neuherberg, Germany.

Eric Hahnen (E)

Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Christopher A Haiman (CA)

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Niclas Håkansson (N)

Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.

Per Hall (P)

Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Department of Oncology, Sšdersjukhuset, Stockholm, Sweden.

Ute Hamann (U)

German Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany.

Jaana M Hartikainen (JM)

Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.

Bernadette A M Heemskerk-Gerritsen (BAM)

Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.

Antoinette Hollestelle (A)

Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.

Reiner Hoppe (R)

Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
University of Tübingen, Tübingen, Germany.

John L Hopper (JL)

Melbourne School of Population and Global Health, Centre for Epidemiology and Biostatistics, The University of Melbourne, Melbourne, VIC, Australia.

David J Hunter (DJ)

Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Nuffield Department of Population Health, University of Oxford, Oxford, UK.

William Jacot (W)

Institut du Cancer de Montpellier, Montpellier University, Montpellier, France.

Anna Jakubowska (A)

Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland.

Esther M John (EM)

Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford Cancer Institute, Stanford, CA, USA.
Department of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA.

Audrey Y Jung (AY)

Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Rudolf Kaaks (R)

Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Elza Khusnutdinova (E)

Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russia.

Linetta B Koppert (LB)

Department of Surgical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.

Peter Kraft (P)

Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Harvard T.H. Chan School of Public Health, Program in Genetic Epidemiology and Statistical Genetics, Boston, MA, USA.

Vessela N Kristensen (VN)

Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.

Allison W Kurian (AW)

Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford Cancer Institute, Stanford, CA, USA.
Department of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA.

Diether Lambrechts (D)

VIB Center for Cancer Biology, Leuven, Belgium.
Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium.

Loic Le Marchand (L)

University of Hawaii Cancer Center, Epidemiology Program, Honolulu, HI, USA.

Annika Lindblom (A)

Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.

Robert N Luben (RN)

NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, England, UK.
Medical Research Council (MRC) Epidemiology Unit, University of Cambridge, Cambridge, UK.

Jan Lubiński (J)

Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.

Arto Mannermaa (A)

Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.
Kuopio University Hospital, Biobank of Eastern Finland, Kuopio, Finland.

Mehdi Manoochehri (M)

German Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany.

Sara Margolin (S)

Department of Oncology, Sšdersjukhuset, Stockholm, Sweden.
Department of Clinical Science and Education, Karolinska Institutet, Sšdersjukhuset, Stockholm, Sweden.

Dimitrios Mavroudis (D)

Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.

Taru A Muranen (TA)

Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

Heli Nevanlinna (H)

Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.

Andrew F Olshan (AF)

Department of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Håkan Olsson (H)

Department of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.

Tjoung-Won Park-Simon (TW)

Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.

Alpa V Patel (AV)

Department of Population Science, American Cancer Society, Atlanta, GA, USA.

Paolo Peterlongo (P)

IFOM-The FIRC Institute of Molecular Oncology, Genome Diagnostics Program, Milan, Italy.

Paul D P Pharoah (PDP)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.

Kevin Punie (K)

Department of General Medical Oncology and Multidisciplinary Breast Centre, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium.

Paolo Radice (P)

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy.

Gad Rennert (G)

Carmel Medical Center and Technion Faculty of Medicine, Clalit National Cancer Control Center, Haifa, Israel.

Hedy S Rennert (HS)

Carmel Medical Center and Technion Faculty of Medicine, Clalit National Cancer Control Center, Haifa, Israel.

Atocha Romero (A)

Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.

Rebecca Roylance (R)

Department of Oncology, UCLH Foundation Trust, London, UK.

Thomas Rüdiger (T)

Institute of Pathology, Staedtisches Klinikum Karlsruhe, Karlsruhe, Germany.

Matthias Ruebner (M)

Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.

Emmanouil Saloustros (E)

Department of Oncology, University Hospital of Larissa, Larissa, Greece.

Elinor J Sawyer (EJ)

School of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, King's College London, Guy's Campus, London, UK.

Rita K Schmutzler (RK)

Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.

Minouk J Schoemaker (MJ)

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.

Christopher Scott (C)

Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.

Melissa C Southey (MC)

Cancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC, Australia.
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia.
Department of Clinical Pathology, The University of Melbourne, Melbourne, Victoria, Australia.

Harald Surowy (H)

German Cancer Research Center (DKFZ), Molecular Epidemiology Group, C080, Heidelberg, Germany.
Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany.

Anthony J Swerdlow (AJ)

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Division of Breast Cancer Research, The Institute of Cancer Research, London, UK.

Rulla M Tamimi (RM)

Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Department of Population Health Sciences, Weill Cornell Medicine, New York, NY, USA.

Lauren R Teras (LR)

Department of Population Science, American Cancer Society, Atlanta, GA, USA.

Emilie Thomas (E)

Plateforme de Bioinformatique Gilles Thomas, Centre de recherche en cancérologie de Lyon, Fondation Synergie Lyon Cancer, Université Claude Bernard Lyon 1, Lyon, France.

Ian Tomlinson (I)

Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.

Melissa A Troester (MA)

Department of Epidemiology, Gillings School of Global Public Health and UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

Celine M Vachon (CM)

Division of Epidemiology, Department of Health Science Research, Mayo Clinic, Rochester, MN, USA.

Qin Wang (Q)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.

Robert Winqvist (R)

Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, University of Oulu, Biocenter Oulu, Oulu, Finland.
Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland.

Alicja Wolk (A)

Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Department of Surgical Sciences, Uppsala University, Uppsala, Sweden.

Argyrios Ziogas (A)

Department of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.

Kyriaki Michailidou (K)

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Biostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.

Georgia Chenevix-Trench (G)

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

Thomas Bachelot (T)

Département de Cancérologie Médicale, Centre Léon Bérard, Lyon, France.

Marjanka K Schmidt (MK)

Division of Molecular Pathology, The Netherlands Cancer Institute-Antoni Van Leeuwenhoek Hospital, Amsterdam, The Netherlands. mk.schmidt@nki.nl.
Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands. mk.schmidt@nki.nl.

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