ArticleBreast cancer research : BCR2021
Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment.
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12 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
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Authors and funding
153 authors at 20 institutions in 19 countries.
Anna MorraDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, 1066 CX, The Netherlands.
Maria Escala-GarciaDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, 1066 CX, The Netherlands.
Jonathan BeesleyDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Renske KeemanDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, 1066 CX, The Netherlands.
Sander CanisiusDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, 1066 CX, The Netherlands.
Thomas U AhearnDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada.
Hoda Anton-CulverDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.
Volker ArndtDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Paul L AuerCancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Annelie AugustinssonDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
Laura E Beane FreemanDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Heiko BecherInstitute of Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Stig E BojesenCopenhagen University Hospital, Copenhagen General Population Study, Herlev and Gentofte Hospital, Herlev, Denmark.
Manjeet K BollaDepartment of Public Health and Primary Care, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Thomas BrüningInstitute of the Ruhr University Bochum (IPA), Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Bochum, Germany.
Saundra S BuysDepartment of Medicine, Huntsman Cancer Institute, Salt Lake City, UT, USA.
Bette CaanDivision of Research, Kaiser Permanente, Oakland, CA, USA.
Daniele CampaDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Federico CanzianGerman Cancer Research Center (DKFZ), Genomic Epidemiology Group, Heidelberg, Germany.
Jose E CastelaoInstituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Oncology and Genetics Unit, Vigo, Spain.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Stephen J ChanockDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Ting-Yuan David ChengDivision of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, NY, USA.
Christine L ClarkeWestmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
NBCS Collaborators
Sarah V ColonnaDepartment of Medicine, Huntsman Cancer Institute, Salt Lake City, UT, USA.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Angela CoxDepartment of Oncology and Metabolism, University of Sheffield, Sheffield Institute for Nucleic Acids (SInFoNiA), Sheffield, UK.
Simon S CrossAcademic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Mary B DalyDepartment of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA.
Joe DennisDepartment of Public Health and Primary Care, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Laure DossusNutrition and Metabolism Section, International Agency for Research on Cancer (IARC-WHO), Lyon, France.
Alison M DunningDepartment of Oncology, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Miriam DwekSchool of Life Sciences, University of Westminster, London, UK.
Diana M EcclesFaculty of Medicine, University of Southampton, Southampton, UK.
Arif B EkiciInstitute of Human Genetics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.
A Heather EliassenDepartment of Medicine, Brigham and Women's Hospital and Harvard Medical School, Channing Division of Network Medicine, Boston, MA, USA.
Mikael ErikssonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
D Gareth EvansDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Lin FritschiSchool of Public Health, Curtin University, Perth, Western Australia, Australia.
Manuela Gago-DominguezGalician Public Foundation of Genomic Medicine (FPGMX), Genomic Medicine Group, International Cancer Genetics and Epidemiology Group, Health Research Institute of Santiago (IDIS), Santiago de Compostela, Spain.
José A García-SáenzInstituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Medical Oncology Department, Hospital Clínico San Carlos, Madrid, Spain.
Graham G GilesCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Mervi GripDepartment of Surgery, Oulu University Hospital, University of Oulu, Oulu, Finland.
Pascal GuénelTeam Exposome and Heredity, INSERM, University Paris-Saclay, Center for Research in Epidemiology and Population Health (CESP), Villejuif, France.
Melanie GündertMolecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Eric HahnenFaculty of Medicine and University Hospital Cologne, Center for Familial Breast and Ovarian Cancer, University of Cologne, Cologne, Germany.
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.
Niclas HåkanssonInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Steven N HartDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Jaana M HartikainenTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Arndt HartmannInstitute of Pathology, Comprehensive Cancer Center Erlangen Nuremberg, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany.
Wei HeDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Maartje J HooningDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Reiner HoppeDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
John L HopperCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Anthony HowellDivision of Cancer Sciences, University of Manchester, Manchester, UK.
David J HunterDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
ABCTB Investigators
kConFab Investigators
Agnes JagerDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Anna JakubowskaDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Wolfgang JanniDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Esther M JohnDepartment of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA.
Audrey Y JungDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Rudolf KaaksDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Machteld KeupersDepartment of Radiation Oncology, University Hospitals Leuven, , University of Leuven, Leuven, Belgium.
Cari M KitaharaDivision of Cancer Epidemiology and Genetics, Radiation Epidemiology Branch, National Cancer Institute, Bethesda, MD, USA.
Stella KoutrosDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Peter KraftDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Vessela N KristensenFaculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Allison W KurianDepartment of Epidemiology & Population Health, Stanford University School of Medicine, Stanford, CA, USA.
James V LaceyDepartment of Computational and Quantitative Medicine, City of Hope, Duarte, CA, USA.
Diether LambrechtsVIB Center for Cancer Biology, Leuven, Belgium.
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, USA.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Martha LinetDivision of Cancer Epidemiology and Genetics, Radiation Epidemiology Branch, National Cancer Institute, Bethesda, MD, USA.
Robert N LubenClinical Gerontology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jan LubińskiDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Michael LushDepartment of Public Health and Primary Care, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Mehdi ManoochehriMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Sara MargolinDepartment of Oncology, Södersjukhuset, Stockholm, Sweden.
John W M MartensDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.
Maria Elena MartinezUniversity of California San Diego, Moores Cancer Center, La Jolla, CA, USA.
Dimitrios MavroudisDepartment of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Kyriaki MichailidouDepartment of Public Health and Primary Care, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Roger L MilneCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Anna Marie MulliganDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Taru A MuranenDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
William G NewmanDivision of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Sune F NielsenCopenhagen University Hospital, Copenhagen General Population Study, Herlev and Gentofte Hospital, Herlev, Denmark.
Børge G NordestgaardCopenhagen University Hospital, Copenhagen General Population Study, Herlev and Gentofte Hospital, Herlev, Denmark.
Andrew F OlshanDepartment 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 OlssonDepartment of Cancer Epidemiology, Clinical Sciences, Lund University, Lund, Sweden.
Nick OrrCentre for Cancer Research and Cell Biology, Queen's University Belfast, Belfast, Northern Ireland, UK.
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Alpa V PatelDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Bernard PeisselUnit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy.
Paolo PeterlongoGenome Diagnostics Program, IFOM - the FIRC Institute of Molecular Oncology, Milan, Italy.
Dijana Plaseska-KaranfilskaMASA, Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Skopje, Republic of North Macedonia.
Karolina PrajzendancDepartment of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Ross PrenticeCancer Prevention Program, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Nadege PresneauSchool of Life Sciences, University of Westminster, London, UK.
Brigitte RackDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Gad RennertCarmel Medical Center and Technion Faculty of Medicine, Clalit National Cancer Control Center, Haifa, Israel.
Hedy S RennertCarmel Medical Center and Technion Faculty of Medicine, Clalit National Cancer Control Center, Haifa, Israel.
Valerie RheniusDepartment of Oncology, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Atocha RomeroMedical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.
Rebecca RoylanceDepartment of Oncology, UCLH Foundation Trust, London, UK.
Matthias RuebnerDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg (FAU), Erlangen, Germany.
Emmanouil SaloustrosDepartment of Oncology, University Hospital of Larissa, Larissa, Greece.
Elinor J SawyerSchool of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy's Campus, King's College London, London, UK.
Rita K SchmutzlerFaculty of Medicine and University Hospital Cologne, Center for Familial Breast and Ovarian Cancer, University of Cologne, Cologne, Germany.
Andreas SchneeweissMolecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany.
Christopher ScottDepartment of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.
Mitul ShahDepartment of Oncology, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Snezhana SmichkoskaMedical Faculty, University Clinic of Radiotherapy and Oncology, Ss. Cyril and Methodius University in Skopje, Skopje, Republic of North Macedonia.
Melissa C SoutheyCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Jennifer StoneCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Harald SurowyMolecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Anthony J SwerdlowDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Rulla M TamimiDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
William J TapperFaculty of Medicine, University of Southampton, Southampton, UK.
Lauren R TerasDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Mary Beth TerryDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.
Rob A E M TollenaarDepartment of Surgery, Leiden University Medical Center, Leiden, The Netherlands.
Ian TomlinsonInstitute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.
Melissa A TroesterDepartment 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.
Thérèse TruongTeam Exposome and Heredity, INSERM, University Paris-Saclay, Center for Research in Epidemiology and Population Health (CESP), Villejuif, France.
Celine M VachonDepartment of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Qin WangDepartment of Public Health and Primary Care, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Amber N HursonDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Alicja WolkInstitute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.
Argyrios ZiogasDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Montserrat García-ClosasDepartment of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Paul D P PharoahDepartment of Public Health and Primary Care, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Douglas F EastonDepartment of Public Health and Primary Care, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, UK.
Georgia Chenevix-TrenchDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, 1066 CX, The Netherlands. mk.schmidt@nki.nl.ORCID 0000-0002-2228-429X
German Cancer Research Center · DEUniversity of Cambridge · GBNational Institutes of Health · USKarolinska Institutet · SEThe University of Melbourne · AUAmerican Cancer Society · USHarvard University · USThe Netherlands Cancer Institute · NLUniversity of Eastern Finland · FIUniversity of North Carolina at Chapel Hill · USErasmus MC Cancer Institute · NLFred Hutch Cancer Center · USHuntsman Cancer Institute · USInserm · FRThe University of Sydney · AUUniversity of California, Los Angeles · USUniversity of Copenhagen · DKUniversity of Helsinki · FIBrigham and Women's Hospital · USCancer Council Victoria · AU
Funding
Tissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI CHARLES M PEROU · 1992 to 2026
$59.3MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3MCore-001U01CA164920 · NCI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Irene Andrulis, Sarah Violet Colonna · 2018 to 2026
$17.0MEpidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6MEpidemiological and Clinical Translational Studies Post Genome-Wide AssociationU19CA148537 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI EASTON, DOUGLAS FREDERICK, EELES, ROSALIND · 2010 to 2014
$10.4MOvarian cancer GWAS discovery, expansion and replication (N2 - Project #1)U19CA148112 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI SELLERS, THOMAS A · 2010 to 2014
$10.2MA genome-wide association study for breast cancer in BRCA1 mutation carriersR01CA128978 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH · 2008 to 2012
$4.8MCancer Research UK 14136Cancer Research UK 16561Cancer Research UK 16563Cancer Research UK 16565Cancer Research UK 29186Cancer Research UK C12292/A11174Cancer Research UK C1281/A12014Cancer Research UK C1287/A10118Cancer Research UK C1287/A10710Cancer Research UK C1287/A16563Cancer Research UK C5047/A10692Cancer Research UK C5047/A15007Cancer Research UK C5047/A8384Cancer Research UK C8197/A16565Medical Research Council G0401527Medical Research Council G1000143Medical Research Council MR/M012190/1Medical Research Council MR/N003284/1NCI NIH HHS P50 CA058223NCI NIH HHS R01 CA128978NCI NIH HHS U01 CA164920NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NIEHS NIH HHS P30 ES010126NIH HHS CA128978NIH HHS U19 CA148065World Health Organization 001
Abstract
backgroundGiven the high heterogeneity among breast tumors, associations between common germline genetic variants and survival that may exist within specific subgroups could go undetected in an unstratified set of breast cancer patients.
methodsWe performed genome-wide association analyses within 15 subgroups of breast cancer patients based on prognostic factors, including hormone receptors, tumor grade, age, and type of systemic treatment. Analyses were based on 91,686 female patients of European ancestry from the Breast Cancer Association Consortium, including 7531 breast cancer-specific deaths over a median follow-up of 8.1 years. Cox regression was used to assess associations of common germline variants with 15-year and 5-year breast cancer-specific survival. We assessed the probability of these associations being true positives via the Bayesian false discovery probability (BFDP < 0.15).
resultsEvidence of associations with breast cancer-specific survival was observed in three patient subgroups, with variant rs5934618 in patients with grade 3 tumors (15-year-hazard ratio (HR) [95% confidence interval (CI)] 1.32 [1.20, 1.45], P = 1.4E-08, BFDP = 0.01, per G allele); variant rs4679741 in patients with ER-positive tumors treated with endocrine therapy (15-year-HR [95% CI] 1.18 [1.11, 1.26], P = 1.6E-07, BFDP = 0.09, per G allele); variants rs1106333 (15-year-HR [95% CI] 1.68 [1.39,2.03], P = 5.6E-08, BFDP = 0.12, per A allele) and rs78754389 (5-year-HR [95% CI] 1.79 [1.46,2.20], P = 1.7E-08, BFDP = 0.07, per A allele), in patients with ER-negative tumors treated with chemotherapy.
conclusionsWe found evidence of four loci associated with breast cancer-specific survival within three patient subgroups. There was limited evidence for the existence of associations in other patient subgroups. However, the power for many subgroups is limited due to the low number of events. Even so, our results suggest that the impact of common germline genetic variants on breast cancer-specific survival might be limited.
Indexed as
Germ-Line MutationBreast NeoplasmsFemaleGenome-Wide Association StudyHumansPolymorphism, Single NucleotidePrognosisSurvival AnalysisBreast cancer-specific survivalCommon germline genetic variantsPatient subgroupsSystemic treatmentTumor biology
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