Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer.
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| Title: | Large-scale meta-analysis and precision functional assays identify FANCM regions in which PTVs confer different risks for ER-negative and triple-negative breast cancer. |
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| Authors: | Billaud A; Genome Diagnostics Program, IFOM ETS - the AIRC Institute of Molecular Oncology, Milan, Italy; Unité de Génomique Fonctionnelle, Institut de Cancérologie de l'Ouest Nantes-Angers, Angers, France; Univ Angers, Nantes Université, Inserm, CNRS, CRCI2NA, SFR ICAT, Angers, France., Figlioli G; Genome Diagnostics Program, IFOM ETS - the AIRC Institute of Molecular Oncology, Milan, Italy; Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Milan, Italy; IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy., Mooser C; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark., Casamassima I; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark; Department of Pharmacy and Biotechnology (FaBit), University of Bologna, Bologna, Italy., Azzoni V; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark., Srivatsa J; Genome Diagnostics Program, IFOM ETS - the AIRC Institute of Molecular Oncology, Milan, Italy., Colombo M; Unit of Predictive Medicine, Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy., Caleca L; Unit of Predictive Medicine, Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy., Ahearn TU; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda MD, USA., Andrulis IL; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Beckmann MW; Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany., Behrens S; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Bermisheva M; Institute of Biochemistry and Genetics of the Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia., Bogdanova NV; Department of Radiation Oncology, Hannover Medical School, Hannover, Germany., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Bonanni B; IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy., Brüning T; Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, Bochum, Germany., Camp NJ; Department of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA., Campbell A; Centre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Edinburgh, UK., Castelao JE; Oncólogy and Genétics Group, Instituto Investigación Sanitaria Galicia Sur-SERGAS, Vigo, Spain., Cessna MH; Intermountain Healthcare, Salt Lake City, UT, USA., Chang-Claude J; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany; Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Czene K; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Devilee P; Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Dörk T; Department of Gynecology and Obstetrics, Comprehensive Cancer Center Lower Saxony, Hannover Medical School, Hannover, Germany., Dunning AM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Eriksson M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Evans DG; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Fasching PA; Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany., Figueroa JD; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda MD, USA; Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh, Edinburgh, UK; Cancer Research UK Edinburgh Centre, The University of Edinburgh, Edinburgh, UK., Gabrielson M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Gago-Dominguez M; Cancer Genetics and Epidemiology Group, Genomic Medicine Group, Fundación Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain., González-Neira A; Human Genotyping Unit-CeGen, Spanish National Cancer Research Centre (CNIO), Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Guénel P; Team 'Exposome and Heredity', CESP, Gustave Roussy, INSERM, University Paris-Saclay, UVSQ, Villejuif, France., Hadjisavvas A; Department of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus., 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., Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany., Hillemanns P; Department of Gynecology and Obstetrics, Comprehensive Cancer Center Lower Saxony, Hannover Medical School, Hannover, Germany., Hollestelle A; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., Hooning MJ; Department of Medical Oncology, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., Hoppe R; Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany; University of Tübingen, Tübingen, Germany., Howell A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Jakubowska A; Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland; Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland., Kristensen VN; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Lubiński J; Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland., Lush M; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Italy., Mavroudis D; Department of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece., Milne RL; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Mulligan AM; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada., Newman WG; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., Obi N; Institute for Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Institute for Occupational and Maritime Medicine (ZfAM), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Panayiotidis MI; Department of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus; Department of Comparative Biomedical Sciences, College of Veterinary Medicine, Mississippi State University, Starkville, Mississippi, USA., Pita G; Human Genotyping Unit-CeGen, Spanish National Cancer Research Centre (CNIO), Madrid, Spain., Rashid MU; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany; Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre (SKMCH & RC), Lahore, Pakistan., Rhenius V; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Saloustros E; Division of Oncology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece., Sawyer EJ; School of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy's Campus, King's College London, London, UK., 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., Shah M; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Southey MC; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia; Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia., Spurdle AB; Public Health Program, QIMR Berghofer, Brisbane, Queensland, Australia., Tomlinson I; Department of Oncology, Old Road Campus Research Building, University of Oxford, Oxford, UK., Truong T; Team 'Exposome and Heredity', CESP, Gustave Roussy, INSERM, University Paris-Saclay, UVSQ, Villejuif, France., Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Wendt C; Department of Oncology, Södersjukhuset, Stockholm, Sweden; Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden., Auer PL; Division of Biostatistics, Data Science Institute, and Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA., Boddicker NJ; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, USA., Bodelon C; Department of Population Science, American Cancer Society, Atlanta, USA., Burnside ES; Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, USA., Chen F; Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, USA., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, USA., Domchek SM; Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA., Eliassen HA; Departments of Epidemiology and Nutrition, Harvard T.H. Chan School of Public Health, Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA., Haiman C; Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, USA., Hodge JM; Department of Population Science, American Cancer Society, Atlanta, USA., Hu C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, USA., Huang H; Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, USA., Lindstrom S; University of Washington, Seattle, USA., Martinez ME; University of California, San Diego, La Jolla California, USA., Nathanson KL; Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA., Neuhausen SL; Beckman Research Institute of City of Hope, Duarte, USA., O'Brien KM; Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Durham NC, USA., Olson JE; Mayo Clinic, Rochester, USA., Palmer JR; Slone Epidemiology Center, Boston University Chobanian & Avedisian School of Medicine, Boston, USA., Patel AV; Department of Population Science, American Cancer Society, Atlanta, USA., Ruddy KJ; Mayo Clinic, Rochester, USA., Sandler DP; Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Durham NC, USA., Teras LR; Department of Population Science, American Cancer Society, Atlanta, USA., Weinberg CR; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Durham NC, USA., Weitzel JN; The University of Kansas Cancer Center, Kansas City, KS USA., Winham SJ; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, USA., Yadav S; Department of Medical Oncology, Mayo Clinic, Rochester, USA., Yao S; Roswell Park Cancer Center, Buffalo, USA., Zirpoli G; Slone Epidemiology Center, Boston University Chobanian & Avedisian School of Medicine, Boston, USA., Janatova M; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Kleibl Z; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; Institute of Pathological Physiology, First Faculty of Medicine, Charles University, Prague, Czech Republic., Kleiblova P; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Soukupova J; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Zhao Q; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Devereux L; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia., James PA; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, Australia., Campbell IG; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia., Nguyen-Dumont T; Department of Clinical Pathology, The University of Melbourne, Melbourne, Australia; Clinical Genomics, School of Translational Medicine, Monash University, Melbourne, Australia., Dowty JG; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia., Andrieu N; Inserm, U1331, Paris, France; Institut Curie, Paris, France; Mines Paris, Fontainebleau, France; PSL Research University, Paris, France., Lesueur F; Inserm, U1331, Paris, France; Institut Curie, Paris, France; Mines Paris, Fontainebleau, France; PSL Research University, Paris, France., Stoppa-Lyonnet D; Institut Curie, Service de Génétique, Paris, France; Inserm, U1339, Paris, France; Université Paris Cité, Paris, France., Hoya M; Molecular Oncology Laboratory, Hospital Clinico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Madrid, Spain., Radice P; Unit of Predictive Medicine, Molecular Bases of Genetic Risk, Department of Experimental Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy., Sørensen CS; Biotech Research and Innovation Centre, University of Copenhagen, Copenhagen, Denmark., Peterlongo P; Laboratory of Hematology-Oncology, IEO, European Institute of Oncology IRCCS, Milan, Italy. Electronic address: paolo.peterlongo@ieo.it. |
| Corporate Authors: | NBCS Collaborators; Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway; Department of Research, Vestre Viken Hospital, Drammen, Norway; Section for Breast- and Endocrine Surgery, Department of Cancer, Division of Surgery, Cancer and Transplantation Medicine, Oslo University Hospital-Ullevål, Oslo, Norway; Department of Radiology and Nuclear Medicine, Oslo University Hospital, Oslo, Norway; Department of Pathology, Akershus University Hospital, Lørenskog, Norway; Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway; Department of Oncology, Division of Surgery, Cancer and Transplantation Medicine, Oslo University Hospital-Radiumhospitalet, Oslo, Norway; National Advisory Unit on Late Effects after Cancer Treatment, Oslo University Hospital, Oslo, Norway; Department of Oncology, Akershus University Hospital, Lørenskog, Norway; Oslo Breast Cancer Research Consortium, Oslo University Hospital, Oslo, Norway; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., kConFab Investigators; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Parkville, Victoria, Australia; Research Department, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia., CZECANCA consortium; Institute of Medical Biochemistry and Laboratory Diagnostics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., GENESIS; Inserm, U1331, Paris, France; Institut Curie, Paris, France; Mines Paris, Fontainebleau, France; PSL Research University, Paris, France; Institut Curie, Service de Génétique, Paris, France; Inserm, U1339, Paris, France; Université Paris Cité, Paris, France. |
| Source: | Breast (Edinburgh, Scotland) [Breast] 2026 Feb; Vol. 85, pp. 104619. Date of Electronic Publication: 2025 Oct 30. |
| Publication Type: | Journal Article; Meta-Analysis |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9213011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-3080 (Electronic) Linking ISSN: 09609776 NLM ISO Abbreviation: Breast Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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