Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/50978
Title: Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival.
Authors: Morra A.;Schreurs M.A.C.;Andrulis I.L.;Anton-Culver H.;Augustinsson A.;Beckmann M.W.;Behrens S.;Bojesen S.E.;Bolla M.K.;Brauch H.;Broeks A.;Koehler J.;Kollias J.;Lakhani S.;Lawrence M.;Castelao J.E.;Lee J. ;Li S.;Lindeman G.;Lipton L.;Lux M.P.;Evans D.G.;Lobb L.;Loi S.;Mann G.;Marsh D.;McLachlan S.A.;Meiser B.;Cessna M.H.;Milne R.;Nightingale S.;O'Connell S.;Fasching P.A.;Gram I.T.;O'Sullivan S.;Ortega D.G.;Pachter N.;Pang J.-M.;Pathak G.;Patterson B.;Pearn A.;Chang-Claude J.;Phillips K.;Fehm T.N.;Pieper E.;Edkins T.;Ramus S.;Rickard E.;Robinson B.;Saleh M.;Skandarajah A.;Salisbury E.;Saunders C.;Saunus J.;Figueroa J.D.;Chung W.K.;Scott R.;Mannermaa A.;Sexton A.;Shelling A.;Simpson P.;Southey M.;Spurdle A.;Taylor J.;Taylor R.;Flyger H.;Thorne H.;Trainer A.;Sahlberg K.K.;Mavroudis D.;Tucker K.;Visvader J.;Walker L.;Williams R.;Winship I.;Young M.A.;Gabrielson M.;Zaheed M.;Jakubowska A.;Janni W.;Jernstrom H.;Mulligan A.M.;Borresen-Dale A.-L.;John E.M.;Muranen T.A.;Nevanlinna H.;Nevelsteen I.;Gago-Dominguez M.;Neven P.;Newman W.G.;Obi N.;Offit K.;Edwards S.;Olsen K.S.;Olshan A.F.;Park-Simon T.-W.;Patel A.V.;Peterlongo P.;Garcia-Closas M.;Phillips K.-A.;Plaseska-Karanfilska D.;Polley E.C.;Presneau N.;Pylkas K.;Farshid G.;Rack B.;Engebraten O.;Radice P.;Rashid M.U.;Garcia-Saenz J.A.;Rhenius V.;Robson M.;Romero A.;Saloustros E.;Sawyer E.J.;Schmutzler R.K.;Fellows A.;Schuetze S.;Scott C.;Naume B.;Forrest L.;Shah M.;Smichkoska S.;Southey M.C.;Tapper W.J.;Teras L.R.;Tollenaar R.A.E.M.;Tomczyk K.;Fenton G.;Tomlinson I.;Troester M.A.;Johnson N.;Vachon C.M.;Geisler J.;van Veen E.M.;Wang Q.;Wendt C.;Wildiers H.;Winqvist R.;Ziogas A.;Field M.;Hall P.;Genkinger J.;Pharoah P.D.P.;Adank M.A.;Hollestelle A.;Grenaker Alnaes G.I.;Schmidt M.K.;Hooning M.J.;Colonna S.V.;Couch F.J.;Cox A.;Flanagan J.;Grassmann F.;Cross S.S.;Czene K.;Daly M.B.;Dennis J.;Devilee P.;Dork T.;Dunning A.M.;Dwek M.;Easton D.F.;Eccles D.M.;Gundert M.;Fong P.;Eriksson M.;Hahnen E.;Haiman C.A.;Hamann U.;Harrington P.A.;Hartikainen J.M.;Hoppe R.;Hopper J.L.;Jones M.E.;Fox S.;Houlston R.S.;Howell A.;Clarke C.;Baxter R.;Yip D.;Carpenter J.;Davis A. ;Pathmanathan N.;Graham J.D.;Kristensen V.N.;Sachchithananthan M.;Buys S.S.;Amor D.;Andrews L.;Antill Y.;Balleine R.;Beesley J.;Bennett I.;Bogwitz M.;Botes L.;Kurian A.W.;Brennan M.;Brown M.;French J.;Buckley M.;Burke J.;Butow P.;Caldon L.;Campbell I.;Cao M.;Chakrabarti A.;Lambrechts D.;Chauhan D.;Chauhan M.;Chenevix-Trench G.;Friedlander M.;Christian A.;Cohen P.;Colley A.;Crook A.;Cui J.;Courtney E.;LeMarchand L.;Cummings M.;Dawson S.-J.;DeFazio A.;Delatycki M.;Gaff C.;Dickson R.;Dixon J.;Gattas M.;George P.;Greening S.;Lindblom A.;Harris M. ;Hart S.;Hayward N.;Hopper J.;Camp N.J.;Hoskins C.;Hunt C.;James P.;Jenkins M.;Kidd A.;Lubinski J.;Kirk J.
Monash Health Department(s): Monash University - School of Clinical Sciences at Monash Health
Institution: (Morra, Broeks, Schmidt) Division of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, Netherlands
(Schreurs, Hollestelle, Hooning) Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, Netherlands
(Andrulis) Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada
(Andrulis) Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada
(Anton-Culver, Ziogas) Department of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, United States
(Augustinsson, Jernstrom) Oncology, Clinical Sciences in Lund, Lund University, Lund, Sweden
(Beckmann, Fasching, Lux) Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany
(Behrens, Chang-Claude) Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany
(Bojesen) Copenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
(Bojesen) Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
(Bojesen) Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark
(Rashid) Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan
(Romero) Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain
(Saloustros) Department of Oncology, University Hospital of Larissa, Larissa, Greece
(Sawyer) School of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, King's College London, Guy's Campus, London, United Kingdom
(Schmutzler) Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
(Smichkoska) Medical Faculty, University Clinic of Radiotherapy and Oncology, Ss. Cyril and Methodius University in Skopje, Skopje, North Macedonia
(Southey) Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, VIC, Australia
(Southey) Department of Clinical Pathology, The University of Melbourne, Melbourne, VIC, Australia
(Southey) Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, VIC, Australia
(Tollenaar) Department of Surgery, Leiden University Medical Center, Leiden, Netherlands
(Tomlinson) Cancer Research Centre, The University of Edinburgh, Edinburgh, United Kingdom
(Vachon) Division of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, United States
(Wendt) Department of Clinical Science and Education, Sodersjukhuset, Karolinska Institutet, Stockholm, Sweden
(Wendt, Hall) Department of Oncology, Sodersjukhuset, Stockholm, Sweden
(Adank) Family Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands
(Schmidt) Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, Netherlands
(Bolla, Dennis, Easton, Wang, Pharoah) Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
(Brauch, Hoppe) Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany
(Brauch) iFIT-Cluster of Excellence, University of Tubingen, Tubingen, Germany
(Brauch) German Cancer Consortium (DKTK), Partner Site Tubingen, German Cancer Research Center (DKFZ), Tubingen, Germany
(Buys, Camp, Colonna) Department of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, United States
(Castelao) Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain
(Cessna) Intermountain Healthcare, Salt Lake City, UT, United States
(Chang-Claude) Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany
(Chung) Departments of Pediatrics and Medicine, Columbia University, New York, NY, United States
(Kristensen) Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway
(Kristensen) Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway
(Couch) Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States
(Cox) Department of Oncology and Metabolism, Sheffield Institute for Nucleic Acids (SInFoNiA), University of Sheffield, Sheffield, United Kingdom
(Cross) Department of Neuroscience, Academic Unit of Pathology, University of Sheffield, Sheffield, United Kingdom
(Czene, Eriksson, Gabrielson, Grassmann, Hall) Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden
(Daly) Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, United States
(Devilee) Department of Pathology, Leiden University Medical Center, Leiden, Netherlands
(Devilee) Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands
(Dork, Park-Simon) Gynaecology Research Unit, Hannover Medical School, Hannover, Germany
(Dunning, Easton, Harrington, Rhenius, Shah, Pharoah) Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, United Kingdom
(Dwek, Presneau) School of Life Sciences, University of Westminster, London, United Kingdom
(Eccles, Tapper) Faculty of Medicine, University of Southampton, Southampton, United Kingdom
(Evans, Newman, van Veen) Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom
(Evans, Newman, van Veen) North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom
(Fehm) Department of Gynecology and Obstetrics, University Hospital Dusseldorf, Heinrich-Heine University Dusseldorf, Dusseldorf, Germany
(Figueroa) Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh, Edinburgh, United Kingdom
(Figueroa) Cancer Research UK Edinburgh Centre, The University of Edinburgh, Edinburgh, United Kingdom
(Figueroa, Garcia-Closas) Division of Cancer Epidemiology and Genetics, Department of Health and Human Services, National Cancer Institute, National Institutes of Health, Bethesda, MD, United States
(Flyger) Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark
(Gago-Dominguez) Cancer Genetics and Epidemiology Group, SERGAS, Instituto de Investigacion Sanitaria de Santiago de Compostela (IDIS) Foundation, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain
(Garcia-Saenz) Medical Oncology Department, Hospital Clinico San Carlos, Instituto de Investigacion Sanitaria San Carlos (IdISSC), Centro Investigacion Biomedica en Red de Cancer (CIBERONC), Madrid, Spain
(Genkinger) Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, United States
(Genkinger) Herbert Irving Comprehensive Cancer Center, New York, NY, United States
(Grassmann) Health and Medical University, Potsdam, Germany
(Gundert) Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany
(Gundert) Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany
(Gundert) Institute of Diabetes Research, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany
(Hahnen, Schmutzler) Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
(Hahnen, Schmutzler) Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
(Haiman) Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, United States
(Hamann, Rashid) Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany
(Hartikainen, Mannermaa) Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland
(Hartikainen, Mannermaa) Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland
(Hoppe) University of Tubingen, Tubingen, Germany
(Hopper, Phillips) Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, VIC, Australia
(Houlston, Jones) Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom
(Howell) Division of Cancer Sciences, University of Manchester, Manchester, United Kingdom
(Jakubowska, Lubinski) Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
(Jakubowska) Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland
(Janni, Rack, Schuetze) Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany
(John, Kurian) Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, United States
(John, Kurian) Division of Oncology, Department of Medicine, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, United States
(Johnson, Tomczyk) The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, United Kingdom
(Lambrechts) Laboratory for Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium
(Lambrechts) VIB Center for Cancer Biology, VIB, Leuven, Belgium
(Le Marchand) Epidemiology Program, University of Hawaii Cancer Center, Honolulu, HI, United States
(Lindblom) Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
(Lindblom) Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
(Mannermaa) Biobank of Eastern Finland, Kuopio University Hospital, Kuopio, Finland
(Mavroudis) Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece
(Mulligan) Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada
(Mulligan) Laboratory Medicine Program, University Health Network, Toronto, ON, Canada
(Muranen, Nevanlinna) Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland
(Nevelsteen, Neven, Wildiers) Department of Oncology, Leuven Multidisciplinary Breast Center, University Hospitals Leuven, Leuven Cancer Institute, Leuven, Belgium
(Obi) Institute for Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
(Offit) Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, United States
(Offit, Robson) Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, United States
(Olshan, Troester) 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, United States
(Patel, Teras) Department of Population Science, American Cancer Society, Atlanta, GA, United States
(Peterlongo) IFOM ETS - The AIRC Institute of Molecular Oncology, Genome Diagnostics Program, Milan, Italy
(Phillips) Department of Medical Oncology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia
(Phillips) Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, VIC, Australia
(Plaseska-Karanfilska) Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', MASA, Skopje, North Macedonia
(Polley, Scott) Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, United States
(Pylkas, Winqvist) Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland
(Pylkas, Winqvist) Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland
(Radice) Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, "Predictive Medicine: Molecular Bases of Genetic Risk", Milan, Italy
Issue Date: 24-Jan-2024
Copyright year: 2023
Publisher: John Wiley and Sons Inc
Place of publication: United Kingdom
Publication information: Cancer Medicine. 12(15) (pp 16142-16162), 2023. Date of Publication: August 2023.
Journal: Cancer Medicine
Abstract: Background: Breast 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. Aim(s): To assessed the associations of CHEK2 c.1100delC, radiotherapy, and systemic treatment with CBC risk and BCSS. Method(s): Analyses 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. Result(s): There 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)]. Conclusion(s): Systemic 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.Copyright © 2023 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
DOI: http://monash.idm.oclc.org/login?url=https://dx.doi.org/10.1002/cam4.6272
URI: https://repository.monashhealth.org/monashhealthjspui/handle/1/50978
Type: Article
Subjects: breast cancer
Type of Clinical Study or Trial: Observational study (cohort, case-control, cross sectional, or survey)
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