ArticleCancer medicine2023
Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.
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Article in Cancer medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 7 citations in OpenAlex.
- Landscape of somatic genetic alterations and PAM50 intrinsic subtypes in breast cancer associated with germline pathogenic variants in DNA-repair genes.Journal of the National Cancer Institute · 2026Article
- Later age of natural menopause among women with the pathogenicJournal of medical genetics · 2026Article
- The impact of CHEK2 status on radiosurgical outcomes in breast cancer brain metastases.Neurosurgical review · 2026Article
- Risk of Radiation-Associated Contralateral Breast Cancer in Germline Mutation Carriers: A Meta-Analysis and Systematic Review.Cancers · 2026Review
- Revealing roles of PANoptosis-related genes in prognosis and molecular subtypes in lung squamous cell carcinoma by integrated bioinformatic analyses and experiments.Clinical and experimental medicine · 2025Article
- Breast, Colorectal, and Pancreatic Cancer Mortality With Pathogenic Variants inJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Article
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.Cancer medicine · 2023Article
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Authors and funding
120 authors at 20 institutions in 17 countries.
Anna MorraDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.ORCID 0000-0003-4983-7883
Maartje A C SchreursDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.ORCID 0000-0002-1826-5344
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Hoda Anton-CulverDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, California, USA.ORCID 0000-0002-9603-0110
Annelie AugustinssonOncology, Clinical Sciences in Lund, Lund University, Lund, Sweden.
Matthias W BeckmannDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany.
Sabine BehrensDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.ORCID 0000-0003-0856-5631
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Annegien BroeksDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.
Saundra S BuysDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Nicola J CampDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Jose E CastelaoOncology and Genetics Unit, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain.
Melissa H CessnaIntermountain Healthcare, Salt Lake City, Utah, USA.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University, New York, New York, USA.
NBCS CollaboratorsDepartment of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway.
Sarah V ColonnaDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.
Angela CoxDepartment of Oncology and Metabolism, Sheffield Institute for Nucleic Acids (SInFoNiA), University of Sheffield, Sheffield, UK.
Simon S CrossDepartment of Neuroscience, Academic Unit of Pathology, 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, Pennsylvania, USA.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, the Netherlands.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.ORCID 0000-0002-9458-0282
Alison M DunningDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Miriam DwekSchool of Life Sciences, University of Westminster, London, UK.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Diana M EcclesFaculty of Medicine, University of Southampton, Southampton, UK.
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, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany.
Tanja N FehmDepartment of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Jonine D FigueroaUsher Institute of Population Health Sciences and Informatics, The University of Edinburgh, Edinburgh, UK.ORCID 0000-0002-5100-623X
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Marike GabrielsonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0002-3171-1556
Manuela Gago-DominguezCancer Genetics and Epidemiology Group, SERGAS, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS) Foundation, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain.ORCID 0000-0001-6713-4351
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
José A García-SáenzMedical Oncology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain.ORCID 0000-0001-6880-0301
Jeanine GenkingerDepartment of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, USA.
Felix GrassmannDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Melanie GündertMolecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Eric HahnenCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.ORCID 0000-0002-1152-8367
Christopher A HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Patricia A HarringtonDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Jaana M HartikainenTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.ORCID 0000-0001-8267-1905
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.
Richard S HoulstonDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Anthony HowellDivision of Cancer Sciences, University of Manchester, Manchester, UK.
ABCTB InvestigatorsAustralian Breast Cancer Tissue Bank, Westmead Institute for Medical Research, University of Sydney, Sydney, New South Wales, Australia.
kConFab InvestigatorsResearch Department, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.
Anna JakubowskaDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Wolfgang JanniDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Helena JernströmOncology, Clinical Sciences in Lund, Lund University, Lund, Sweden.ORCID 0000-0002-2301-5147
Esther M JohnDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, California, USA.ORCID 0000-0003-3259-8003
Nichola JohnsonThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Michael E JonesDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.
Vessela N KristensenFaculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Allison W KurianDepartment of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, California, USA.
Diether LambrechtsLaboratory for Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.ORCID 0000-0002-3429-302X
Loic Le MarchandEpidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii, USA.
Annika LindblomDepartment of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Jan LubińskiDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.
Michael P LuxDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Dimitrios MavroudisDepartment of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Anna Marie MulliganDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Taru A MuranenDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-5895-1808
Heli NevanlinnaDepartment of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-0916-2976
Ines NevelsteenDepartment of Oncology, Leuven Multidisciplinary Breast Center, University Hospitals Leuven, Leuven Cancer Institute, Leuven, Belgium.
Patrick NevenDepartment of Oncology, Leuven Multidisciplinary Breast Center, University Hospitals Leuven, Leuven Cancer Institute, Leuven, Belgium.
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.
Nadia ObiInstitute for Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kenneth OffitClinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
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, North Carolina, USA.
Tjoung-Won Park-SimonGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Alpa V PatelDepartment of Population Science, American Cancer Society, Atlanta, Georgia, USA.ORCID 0000-0001-9997-1218
Paolo PeterlongoIFOM ETS - The AIRC Institute of Molecular Oncology, Genome Diagnostics Program, Milan, Italy.
Kelly-Anne PhillipsCentre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Dijana Plaseska-KaranfilskaResearch Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', MASA, Skopje, Republic of North Macedonia.
Eric C PolleyDivision of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
Nadege PresneauSchool of Life Sciences, University of Westminster, London, UK.
Katri PylkäsLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.ORCID 0000-0002-2449-0521
Brigitte RackDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Paolo RadiceDepartment of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, "Predictive Medicine: Molecular Bases of Genetic Risk", Milan, Italy.
Muhammad U RashidMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0002-7684-3122
Valerie RheniusDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Mark RobsonClinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Atocha RomeroMedical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain.
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 SchmutzlerCenter for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Sabine SchuetzeDepartment of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Christopher ScottDivision of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
Mitul ShahDepartment of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, 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 SoutheyPrecision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.
William J TapperFaculty of Medicine, University of Southampton, Southampton, UK.
Lauren R TerasDepartment of Population Science, American Cancer Society, Atlanta, Georgia, USA.
Rob A E M TollenaarDepartment of Surgery, Leiden University Medical Center, Leiden, the Netherlands.
Katarzyna TomczykThe Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK.
Ian TomlinsonCancer Research Centre, The University of Edinburgh, Edinburgh, 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, North Carolina, USA.
Celine M VachonDivision of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
Elke M van VeenDivision 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.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Camilla WendtDepartment of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.
Hans WildiersDepartment of Oncology, Leuven Multidisciplinary Breast Center, University Hospitals Leuven, Leuven Cancer Institute, Leuven, Belgium.
Robert WinqvistLaboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.
Argyrios ZiogasDepartment of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, California, USA.
Per HallDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Paul D P PharoahCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Muriel A AdankFamily Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands.
Antoinette HollestelleDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.
Maartje J HooningDepartment of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands.ORCID 0000-0001-6763-0857
University of Cambridge · GBKarolinska Institutet · SEGerman Cancer Research Center · DEInstitute of Cancer Research · GBMayo Clinic · USThe University of Melbourne · AUAmerican Cancer Society · USManchester Academic Health Science Centre · GBUniversity of Helsinki · FIUniversity of North Carolina at Chapel Hill · USCancer Research UK Cambridge Center · GBErasmus MC Cancer Institute · NLMemorial Sloan Kettering Cancer Center · USUniversität Hamburg · DEUniversity of California, Irvine · USUniversity of Utah · USBreast Cancer Now · GBFox Chase Cancer Center · USHospital Clínico San Carlos · ESKarolinska University Hospital · SE
Funding
X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4MVIRAL MALIGNANCYP30CA023100 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DIANE M SIMEONE · 1985 to 2026
$124.9MTransgenic Mouse FacilityP30CA033572 · NCI · CITY OF HOPE/BECKMAN RESEARCH INSTITUTE · PI STANLEY R. HAMILTON · 1985 to 2026
$86.3MStatistical MethodsP01CA087969 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI ROSNER, BERNARD A · 2000 to 2019
$77.8MUTAH REGIONAL CANCER CENTERP30CA042014 · NCI · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI Jared P Rutter · 1986 to 2026
$72.6MTissue Procurement & PathologyP50CA058223 · NCI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KATHERINE A. HOADLEY · 1992 to 2026
$59.3MThe Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI PETER C LUCAS · 2005 to 2026
$49.9MUnderstanding Population Differences in Cancer: The MEC StudyU01CA164973 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI HAIMAN, CHRISTOPHER ALAN, LE MARCHAND, LOIC · 2015 to 2025
$37.4MUNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Melissa A. Troester · 2001 to 2026
$36.3MCALIFORNIA TEACHERS STUDYR01CA077398 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI BERNSTEIN, LESLIE · 1998 to 2014
$29.7MGENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTSR01CA063464 · NCI · UNIVERSITY OF SOUTHERN CALIFORNIA · PI HENDERSON, BRIAN E · 2001 to 2005
$23.2MLife Course Cancer Epidemiology Cohort in WomenU01CA176726 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI ELIASSEN, A. HEATHER, WILLETT, WALTER C. · 2018 to 2025
$22.4MCancer Research UK 25514CDC HHS NU58DP006320Intramural NIH HHS Z01 CP010119Intramural NIH HHS Z01 ES049030Medical Research Council G1000143Medical Research Council MR/M012190/1NCCDPHP CDC HHS NU58DP006344NCI NIH HHS HHSN261201800009INCI NIH HHS HHSN261201800015INCI NIH HHS HHSN261201800016INCI NIH HHS HHSN261201800032INCI NIH HHS K07 CA092044NCI NIH HHS P01 CA087969NCI NIH HHS P30 CA008748NCI NIH HHS P30 CA023100NCI NIH HHS P30 CA033572NCI NIH HHS P30 CA042014NCI NIH HHS P50 CA058223NCI NIH HHS P50 CA116201NCI NIH HHS R01 CA047147NCI NIH HHS R01 CA047305NCI NIH HHS R01 CA054281NCI NIH HHS R01 CA058860NCI NIH HHS R01 CA063464NCI NIH HHS R01 CA069664NCI NIH HHS R01 CA077398NCI NIH HHS R01 CA097396NCI NIH HHS R01 CA116167NCI NIH HHS R01 CA128931NCI NIH HHS R01 CA128978NCI NIH HHS R01 CA132839NCI NIH HHS R01 CA140286NCI NIH HHS R01 CA163353NCI NIH HHS R01 CA176785NCI NIH HHS R01 CA177150NCI NIH HHS R01 CA192393NCI NIH HHS R35 CA253187NCI NIH HHS U01 CA098758NCI NIH HHS U01 CA164920NCI NIH HHS U01 CA164973NCI NIH HHS U01 CA176726NCI NIH HHS U01 CA179715NCI NIH HHS U01 CA199277NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112NCI NIH HHS U19 CA148537NCI NIH HHS U54 CA156733NCI NIH HHS UM1 CA164917NCI NIH HHS UM1 CA164920NCI NIH HHS UM1 CA176726NCI NIH HHS UM1 CA186107NIEHS NIH HHS P30 ES010126Wellcome Trust
Abstract
backgroundBreast cancer (BC) patients with a germline CHEK2 c.1100delC variant have an increased risk of contralateral BC (CBC) and worse BC-specific survival (BCSS) compared to non-carriers.
aimTo assessed the associations of CHEK2 c.1100delC, radiotherapy, and systemic treatment with CBC risk and BCSS.
methodsAnalyses were based on 82,701 women diagnosed with a first primary invasive BC including 963 CHEK2 c.1100delC carriers; median follow-up was 9.1 years. Differential associations with treatment by CHEK2 c.1100delC status were tested by including interaction terms in a multivariable Cox regression model. A multi-state model was used for further insight into the relation between CHEK2 c.1100delC status, treatment, CBC risk and death.
resultsThere was no evidence for differential associations of therapy with CBC risk by CHEK2 c.1100delC status. The strongest association with reduced CBC risk was observed for the combination of chemotherapy and endocrine therapy [HR (95% CI): 0.66 (0.55-0.78)]. No association was observed with radiotherapy. Results from the multi-state model showed shorter BCSS for CHEK2 c.1100delC carriers versus non-carriers also after accounting for CBC occurrence [HR (95% CI): 1.30 (1.09-1.56)].
conclusionSystemic therapy was associated with reduced CBC risk irrespective of CHEK2 c.1100delC status. Moreover, CHEK2 c.1100delC carriers had shorter BCSS, which appears not to be fully explained by their CBC risk.
Indexed as
Breast NeoplasmsCheckpoint Kinase 2FemaleGenetic Predisposition to DiseaseGerm-Line MutationHeterozygoteHumansProportional Hazards ModelsCheckpoint Kinase 2CHEK2 protein, humanCHEK2 c.1100delC germline genetic variantcontralateral breast cancer riskradiotherapysurvivalsystemic treatment
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