ArticleAmerican journal of human genetics2023
The impact of coding germline variants on contralateral breast cancer risk and survival.
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Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 3 of them syntheses that pooled it.
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18citing papers in PubMed, 3 pooled it
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Who cites it
18 citing papers in PubMed, 3 syntheses or guidelines pooled it, 24 citations in OpenAlex.
- Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2025Guideline
- [Hereditary genetic testing and its application in the diagnosis, treatment, and prevention of breast cancer].Magyar onkologia · 2025Guideline
- Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2023Guideline
- Are current Polish guidelines for prophylactic mastectomy sufficient?Hereditary cancer in clinical practice · 2026Review
- Contralateral breast cancer risks for BRCA1, BRCA2, PALB2, CHEK2, and ATM pathogenic variant carriers in two large cohort studies.BJC reports · 2026Article
- Genomic ascertainment ofmedRxiv : the preprint server for health sciences · 2026Article
- Risk of Radiation-Associated Contralateral Breast Cancer in Germline Mutation Carriers: A Meta-Analysis and Systematic Review.Cancers · 2026Review
- Bilateral Primary Breast Cancer: Current Evidence and Future Perspectives.Breast cancer (Dove Medical Press) · 2026Review
- Surgical Choice among Women with a First Breast Cancer and Pathogenic Variants in Breast Cancer Genes.Annals of surgical oncology · 2025Article
- Review
- Long-term outcomes of bilateral salpingo-oophorectomy in women with personal history of breast cancer.BMJ oncology · 2025Article
- Translational breast cancer research : a journal focusing on translational research in breast cancer · 2025Review
- Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice.British journal of cancer · 2024Review
- Society of Surgical Oncology Breast Disease Site Working Group Statement on Contralateral Mastectomy: Indications, Outcomes, and Risks.Annals of surgical oncology · 2024Review
- Clinicopathologic and genetic analysis of invasive breast carcinomas in women with germline CHEK2 variants.Breast cancer research and treatment · 2024Article
- A genome-wide association study of contralateral breast cancer in the Women's Environmental Cancer and Radiation Epidemiology Study.Breast cancer research : BCR · 2024Article
- Estrogen receptor-positive breast cancer and adverse outcome in BRCA2 mutation carriers and young non-carrier patients.NPJ breast cancer · 2023Article
- PREDICT validity for prognosis of breast cancer patients with pathogenic BRCA1/2 variants.NPJ breast cancer · 2023Article
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Authors and funding
82 authors at 20 institutions in 15 countries.
Anna MorraThe Netherlands Cancer Institute, Division of Molecular Pathology, Plesmanlaan 121, 1066 Amsterdam, the Netherlands. Electronic address: a.morra@nki.nl.
Nasim MavaddatUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
Taru A MuranenUniversity of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
Thomas U AhearnNational Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA.
Jamie AllenUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
Irene L AndrulisLunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada; University of Toronto, Department of Molecular Genetics, Toronto, ON, Canada.
Päivi AuvinenUniversity of Eastern Finland, Translational Cancer Research Area, Kuopio, Finland; University of Eastern Finland, Institute of Clinical Medicine, Oncology, Kuopio, Finland; Kuopio University Hospital, Department of Oncology, Cancer Center, Kuopio, Finland.
Heiko BecherUniversity Medical Center Hamburg-Eppendorf, Institute of Medical Biometry and Epidemiology, Hamburg, Germany.
Sabine BehrensGerman Cancer Research Center, Division of Cancer Epidemiology, Heidelberg, Germany.
Carl BlomqvistUniversity of Helsinki, Department of Oncology, Helsinki University Hospital, Helsinki, Finland.
Stig E BojesenCopenhagen University Hospital, Copenhagen General Population Study, Herlev and Gentofte Hospital, Herlev, Denmark; Copenhagen University Hospital, Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Herlev, Denmark; University of Copenhagen, Faculty of Health and Medical Sciences, Copenhagen, Denmark.
Manjeet K BollaUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
Hiltrud BrauchDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany; University of Tübingen, iFIT-Cluster of Excellence, Tübingen, Germany; German Cancer Consortium and German Cancer Research Center, Partner Site Tübingen, Tübingen, Germany.
Nicola J CampUniversity of Utah, Department of Internal Medicine and Huntsman Cancer Institute, Salt Lake City, UT, USA.
Sara CarvalhoUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
Jose E CastelaoInstituto de Investigación Sanitaria Galicia Sur, Xerencia de Xestion Integrada de Vigo-SERGAS, Oncology and Genetics Unit, Vigo, Spain.
Melissa H CessnaIntermountain Healthcare, Salt Lake City, UT, USA.
Jenny Chang-ClaudeGerman Cancer Research Center, Division of Cancer Epidemiology, Heidelberg, Germany; University Medical Center Hamburg-Eppendorf, Cancer Epidemiology Group, University Cancer Center Hamburg, Hamburg, Germany.
Georgia Chenevix-TrenchQIMR Berghofer Medical Research Institute, Department of Genetics and Computational Biology, Brisbane, QLD, Australia.
NBCS CollaboratorsOslo University Hospital-Radiumhospitalet, Department of Cancer Genetics, Institute for Cancer Research, Oslo, Norway; University of Oslo, Institute of Clinical Medicine, Faculty of Medicine, Oslo, Norway; Vestre Viken Hospital, Department of Research, Drammen, Norway; Oslo University Hospital, Department of Tumor Biology, Institute for Cancer Research, Oslo, Norway; Oslo University Hospital-Radiumhospitalet, Department of Oncology, Division of Surgery, Cancer and Transplantation Medicine, Oslo, Norway; Akershus University Hospital, Department of Oncology, Lørenskog, Norway; Oslo University Hospital, Oslo Breast Cancer Research Consortium, Oslo, Norway; Oslo University Hospital and University of Oslo, Department of Medical Genetics, Oslo, Norway; The Arctic University of Norway, Department of Community Medicine, Tromsø, Norway; The Arctic University of Norway, Core Facility for Biobanking, Tromsø, Norway.
Kamila CzeneKarolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden.
Brennan DeckerUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK; Foundation Medicine, Inc, Pathology, Cambridge, MA, USA.
Joe DennisUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
Thilo DörkHannover Medical School, Gynaecology Research Unit, Hannover, Germany.
Leila DorlingUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
Alison M DunningUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
Arif B EkiciComprehensive Cancer Center Erlangen-EMN, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Institute of Human Genetics, Erlangen, Germany.
Mikael ErikssonKarolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden.
D Gareth EvansUniversity of Manchester, Manchester Academic Health Science Centre, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester, UK; St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester, UK.
Peter A FaschingUniversity Hospital Erlangen, Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany.
Jonine D FigueroaNational Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA; The University of Edinburgh, Usher Institute of Population Health Sciences and Informatics, Edinburgh, UK; The University of Edinburgh, Cancer Research UK Edinburgh Centre, Edinburgh, UK.
Henrik FlygerCopenhagen University Hospital, Department of Breast Surgery, Herlev and Gentofte Hospital, Herlev, Denmark.
Manuela Gago-DominguezFundación Pública Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela, Complejo Hospitalario Universitario de Santiago, SERGAS, Genomic Medicine Group, International Cancer Genetics and Epidemiology Group, Santiago de Compostela, Spain; University of California San Diego, Moores Cancer Center, La Jolla, CA, USA.
Montserrat García-ClosasNational Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA.
Willemina R R Geurts-GieleErasmus University Medical Center, Department of Clinical Genetics, Rotterdam, the Netherlands.
Graham G GilesCancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC, Australia; The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, VIC, Australia; Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC, Australia.
Pascal GuénelINSERM, University Paris-Saclay, Center for Research in Epidemiology and Population Health, Team Exposome and Heredity, Villejuif, France.
Melanie GündertGerman Cancer Research Center, Molecular Epidemiology Group, C080, Heidelberg, Germany; University of Heidelberg, Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, Heidelberg, Germany; Helmholtz Zentrum München, German Research Center for Environmental Health, Institute of Diabetes Research, Neuherberg, Germany.
Eric HahnenFaculty of Medicine and University Hospital Cologne, University of Cologne, Center for Familial Breast and Ovarian Cancer, Cologne, Germany; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Integrated Oncology, Cologne, Germany.
Per HallKarolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden; Södersjukhuset, Department of Oncology, Stockholm, Sweden.
Ute HamannGerman Cancer Research Center, Molecular Genetics of Breast Cancer, Heidelberg, Germany.
Patricia A HarringtonUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
Wei HeKarolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden.
Päivi HeikkiläUniversity of Helsinki, Department of Pathology, Helsinki University Hospital, Helsinki, Finland.
Maartje J HooningErasmus MC Cancer Institute, Department of Medical Oncology, Rotterdam, the Netherlands.
Reiner HoppeDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany; University of Tübingen, Tübingen, Germany.
Anthony HowellUniversity of Manchester, Division of Cancer Sciences, Manchester, UK.
Keith HumphreysKarolinska Institutet, Department of Medical Epidemiology and Biostatistics, Stockholm, Sweden.
kConFab InvestigatorsPeter MacCallum Cancer Center, Research Department, Melbourne, VIC, Australia; The University of Melbourne, Sir Peter MacCallum Department of Oncology, Melbourne, VIC, Australia.
Anna JakubowskaPomeranian Medical University, Department of Genetics and Pathology, International Hereditary Cancer Center, Szczecin, Poland; Pomeranian Medical University, Independent Laboratory of Molecular Biology and Genetic Diagnostics, Szczecin, Poland.
Audrey Y JungGerman Cancer Research Center, Division of Cancer Epidemiology, Heidelberg, Germany.
Renske KeemanThe Netherlands Cancer Institute, Division of Molecular Pathology, Plesmanlaan 121, 1066 Amsterdam, the Netherlands.
Vessela N KristensenUniversity of Oslo, Institute of Clinical Medicine, Faculty of Medicine, Oslo, Norway; Oslo University Hospital and University of Oslo, Department of Medical Genetics, Oslo, Norway.
Jan LubińskiPomeranian Medical University, Department of Genetics and Pathology, International Hereditary Cancer Center, Szczecin, Poland.
Arto MannermaaUniversity of Eastern Finland, Translational Cancer Research Area, Kuopio, Finland; University of Eastern Finland, Institute of Clinical Medicine, Pathology and Forensic Medicine, Kuopio, Finland; Kuopio University Hospital, Biobank of Eastern Finland, Kuopio, Finland.
Mehdi ManoochehriGerman Cancer Research Center, Molecular Genetics of Breast Cancer, Heidelberg, Germany.
Siranoush ManoukianFondazione IRCCS Istituto Nazionale dei Tumori di Milano, Unit of Medical Genetics, Department of Medical Oncology and Hematology, Milan, Italy.
Sara MargolinSödersjukhuset, Department of Oncology, Stockholm, Sweden; Karolinska Institutet, Department of Clinical Science and Education, Södersjukhuset, Stockholm, Sweden.
Dimitrios MavroudisUniversity Hospital of Heraklion, Department of Medical Oncology, Heraklion, Greece.
Roger L MilneCancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC, Australia; The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, VIC, Australia; Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC, Australia.
Anna Marie MulliganUniversity of Toronto, Department of Laboratory Medicine and Pathobiology, Toronto, ON, Canada; University Health Network, Laboratory Medicine Program, Toronto, ON, Canada.
William G NewmanUniversity of Manchester, Manchester Academic Health Science Centre, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester, UK; St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester, UK.
Tjoung-Won Park-SimonHannover Medical School, Gynaecology Research Unit, Hannover, Germany.
Paolo PeterlongoIFOM ETS - the AIRC Institute of Molecular Oncology, Genome Diagnostics Program, Milan, Italy.
Paul D P PharoahUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
Valerie RheniusUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
Emmanouil SaloustrosUniversity Hospital of Larissa, Department of Oncology, Larissa, Greece.
Elinor J SawyerKing's College London, School of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy's Campus, London, UK.
Rita K SchmutzlerFaculty of Medicine and University Hospital Cologne, University of Cologne, Center for Familial Breast and Ovarian Cancer, Cologne, Germany; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Integrated Oncology, Cologne, Germany; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Molecular Medicine Cologne, Cologne, Germany.
Mitul ShahUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
Amanda B SpurdleQIMR Berghofer Medical Research Institute, Population Health Program, Brisbane, QLD, Australia.
Ian TomlinsonUniversity of Birmingham, Institute of Cancer and Genomic Sciences, Birmingham, UK; University of Oxford, Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, Oxford, UK.
Thérèse TruongINSERM, University Paris-Saclay, Center for Research in Epidemiology and Population Health, Team Exposome and Heredity, Villejuif, France.
Elke M van VeenUniversity of Manchester, Manchester Academic Health Science Centre, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester, UK; St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester, UK.
Maaike P G VreeswijkLeiden University Medical Center, Department of Human Genetics, Leiden, the Netherlands.
Qin WangUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK.
Camilla WendtSödersjukhuset, Department of Oncology, Stockholm, Sweden; Karolinska Institutet, Department of Clinical Science and Education, Södersjukhuset, Stockholm, Sweden.
Xiaohong R YangNational Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA.
Heli NevanlinnaUniversity of Helsinki, Department of Obstetrics and Gynecology, Helsinki University Hospital, Helsinki, Finland.
Peter DevileeLeiden University Medical Center, Department of Human Genetics, Leiden, the Netherlands; Leiden University Medical Center, Department of Pathology, Leiden, the Netherlands.
Douglas F EastonUniversity of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK.
Marjanka K SchmidtThe Netherlands Cancer Institute, Division of Molecular Pathology, Plesmanlaan 121, 1066 Amsterdam, the Netherlands; The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Division of Psychosocial Research and Epidemiology, Amsterdam, the Netherlands. Electronic address: mk.schmidt@nki.nl.
University of Cambridge · GBGerman Cancer Research Center · DEUniversity of Helsinki · FIKarolinska Institutet · SELeiden University Medical Center · NLNational Institutes of Health · USManchester Academic Health Science Centre · GBMedizinische Hochschule Hannover · DEQIMR Berghofer Medical Research Institute · AUCentre for Human Genetics · GBInserm · FRThe Netherlands Cancer Institute · NLUniversity of Eastern Finland · FICancer Council Victoria · AUIntermountain Healthcare · USStockholm South General Hospital · SEThe University of Melbourne · AUUniversity Health Network · CACancer Research UK · GBIFOM · IT
Funding
Wellcome Trust 203477/Z/16/Z
Abstract
Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association of protein-truncating variants (PTVs) and rare missense variants (MSVs) in nine known (ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53) and 25 suspected BC-susceptibility genes with CBC risk and BCSS. Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated with Cox regression models. Analyses included 34,401 women of European ancestry diagnosed with BC, including 676 CBCs and 3,449 BC deaths; the median follow-up was 10.9 years. Subtype analyses were based on estrogen receptor (ER) status of the first BC. Combined PTVs and pathogenic/likely pathogenic MSVs in BRCA1, BRCA2, and TP53 and PTVs in CHEK2 and PALB2 were associated with increased CBC risk [HRs (95% CIs): 2.88 (1.70-4.87), 2.31 (1.39-3.85), 8.29 (2.53-27.21), 2.25 (1.55-3.27), and 2.67 (1.33-5.35), respectively]. The strongest evidence of association with BCSS was for PTVs and pathogenic/likely pathogenic MSVs in BRCA2 (ER-positive BC) and TP53 and PTVs in CHEK2 [HRs (95% CIs): 1.53 (1.13-2.07), 2.08 (0.95-4.57), and 1.39 (1.13-1.72), respectively, after adjusting for tumor characteristics and treatment]. HRs were essentially unchanged when censoring for CBC, suggesting that these associations are not completely explained by increased CBC risk, tumor characteristics, or treatment. There was limited evidence of associations of PTVs and/or rare MSVs with CBC risk or BCSS for the 25 suspected BC genes. The CBC findings are relevant to treatment decisions, follow-up, and screening after BC diagnosis.
Indexed as
Breast NeoplasmsFemaleGenes, BRCA2Genetic Predisposition to DiseaseGerm CellsGerm-Line MutationHumansbreast cancer susceptibility genescoding germline variantscontralateral breast cancer risksurvival
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