The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
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| Title: | The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity. |
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| Authors: | Colombo M; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Lòpez-Perolio I; Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Meeks HD; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., Caleca L; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Li H; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., De Vecchi G; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Tudini E; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Foglia C; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Mondini P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Behar R; Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Garcia EBG; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands., Meindl A; Department of Obstetrics and Gynecology, University Hospital, LMU Munich, Germany., Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy., Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University, Duesseldorf, Germany., Schmidt AY; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Varesco L; Hereditary Cancer Unit, IRCCS AOU San Martino -IST, Genova, Italy., Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Michailidou K; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Aittomäki K; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Andrulis IL; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario.; Department of Molecular Genetics, University of Toronto, Toronto, Canada., Anton-Culver H; Department of Epidemiology, University of California Irvine, Irvine, California., Arndt V; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany., Beckmann MW; Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany., Beeghly-Fadel A; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee., Benitez J; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain., Boeckx B; VIB Center for Cancer Biology, VIB, Leuven, Belgium.; Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium., Bogdanova NV; Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus., Bojesen SE; Copenhagen General Population Study, Herlevand Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.; Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy., Brauch H; Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.; University of Tübingen, Tübingen, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany., Brenner H; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany., Burwinkel B; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.; Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany., Chang-Claude J; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Research Group Genetic Cancer Epidemiology, University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Conroy DM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, New York., Cox A; Sheffield Institute for Nucleic Acids (SInFoNiA), Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK., Cross SS; Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, UK., Czene K; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., 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; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany., Eriksson M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Fasching PA; Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.; David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, University of California at Los Angeles, Los Angeles, California., Figueroa J; Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, UK.; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland., Fletcher O; The Breast Cancer Now Toby Robins Research Centre, The Institute of Cancer Research, London, UK., Flyger H; Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark., Gabrielson M; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., García-Closas M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland., Giles GG; Cancer Epidemiology & Intelligence Division, Cancer Council Victoria, Melbourne, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia., González-Neira A; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain., Guénel P; Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France., Haiman CA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California., Hall P; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Hamann U; Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany., Hartman M; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.; Department of Surgery, National University Health System, Singapore, Singapore., Hauke J; Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Hollestelle A; Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, The Netherlands., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia., Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Jung A; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Kosma VM; Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.; Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland., Lambrechts D; VIB Center for Cancer Biology, VIB, Leuven, Belgium.; Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium., Le Marchand L; Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii., Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Lubinski J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Mannermaa A; Translational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.; Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland., Margolin S; Department of Clinical Science and Education Södersjukhuset, Karolinska Institutet, Stockholm, Sweden., Miao H; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore., Milne RL; Cancer Epidemiology & Intelligence Division, Cancer Council Victoria, Melbourne, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global health, The University of Melbourne, Melbourne, Australia., Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California., Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Olson JE; Department of Health Sciences Research, Mayo Clinic, Rochester, New York., Peterlongo P; IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy., Peto J; Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK., Pylkäs K; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.; Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland., Sawyer EJ; Research Oncology, Guy's Hospital, King's College London, London, UK., Schmidt MK; Division of Molecular Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands., Schmutzler RK; Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Schneeweiss A; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.; National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany., Schoemaker MJ; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., See MH; Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia., Southey MC; Department of Pathology, The University of Melbourne, Melbourne, Australia., Swerdlow A; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK.; Division of Breast Cancer Research, The Institute of Cancer Research, London, UK., Teo SH; Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia.; Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Toland AE; Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio., Tomlinson I; Wellcome Trust Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK., Truong T; Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van den Ouweland AMW; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands., van der Kolk LE; Family Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands., Winqvist R; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.; Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland., Yannoukakos D; Molecular Diagnostics Laboratory, INRASTES, National Centre for Scientific Research 'Demokritos', Athens, Greece., Zheng W; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee., Dunning AM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Henderson A; Institute of Genetic Medicine, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, UK., Hogervorst FBL; Family Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, The Netherlands., Izatt L; Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK., Offitt K; Clinical Genetics Research Laboratory, Dept. of Medicine, Cancer Biology and Genetics, Memorial Sloan-Kettering Cancer Center, New York, New York., Side LE; Wessex Clinical Genetics Service, Mailpoint 627, Princess Anne Hospital, Coxford Road, Southampton, SO16 5YA., van Rensburg EJ; Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Pretoria, South Africa., Embrace S; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK., Hebon S; The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Coordinating center: Netherlands Cancer Institute, Amsterdam, The Netherlands., McGuffog L; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Chenevix-Trench G; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia., Goldgar DE; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., Hoya M; Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy. |
| Corporate Authors: | kConFab/AOCS Investigators; Peter MacCallum Cancer Center, Melbourne, Australia. |
| Source: | Human mutation [Hum Mutat] 2018 May; Vol. 39 (5), pp. 729-741. Date of Electronic Publication: 2018 Apr 06. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1098-1004 |
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| DOI: | 10.1002/humu.23411 |
