A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.
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| Title: | A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2. |
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| Authors: | Zanti M; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., O'Mahony DG; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Parsons MT; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Li H; Cancer Control and Population Science, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA., Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Aittomäkkiki 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, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Anton-Culver H; Department of Medicine, Genetic Epidemiology Research Institute, University of California Irvine, Irvine, CA, USA., Aronson KJ; Department of Public Health Sciences, and Cancer Research Institute, Queen's University, Kingston, ON, Canada., Augustinsson A; Oncology, Department of Clinical Sciences in Lund, Lund University, Lund, Sweden., Becher H; Institute for Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bojesen SE; Copenhagen General Population Study, Herlev and 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., Bolla MK; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Brenner H; Division of Clinical Epidemiology and Aging Research, 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.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany., Brown MA; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia., Buys SS; Department of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA., Canzian F; Genomic Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany., Caputo SM; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Castelao JE; Oncology and Genetics Unit, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Xerencia de Xestion Integrada de Vigo-SERGAS, Vigo, Spain., 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., Daly MB; Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA, USA., De Nicolo A; Center for Omics Sciences, IRCCS San Raffaele Scientific Institute, Milan, Italy., 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., Dunning AM; Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK., Dwek M; School of Life Sciences, University of Westminster, London, UK., Eccles DM; Faculty of Medicine, University of Southampton, Southampton, UK., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.; LIFE - Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany., Evans DG; 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, UK.; 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, UK., Fasching PA; Department of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany., Gago-Dominguez M; Genomic Medicine Group, International Cancer Genetics and Epidemiology Group, Fundación Pública Galega de Medicina Xenómica, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain., García-Closas M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA., García-Sáenz JA; Medical Oncology Department, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria San Carlos (IdISSC), Centro Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Gentry-Maharaj A; MRC Clinical Trials Unit, Institute of Clinical Trials & Methodology, University College London, London, UK., Geurts-Giele WRR; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Giles GG; 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., Glendon G; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada., Goldberg MS; Department of Medicine, McGill University, Montréal, QC, Canada.; Division of Clinical Epidemiology, Royal Victoria Hospital, McGill University, Montréal, QC, Canada., Garcia EBG; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Güendert M; Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Molecular Biology of Breast Cancer, University Womens Clinic Heidelberg, University of Heidelberg, Heidelberg, Germany.; Institute of Diabetes Research, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany., Guénel P; Team 'Exposome and Heredity', CESP, Gustave Roussy, INSERM, University Paris-Saclay, UVSQ, Villejuif, France., 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., Haiman CA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Hall P; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.; Department of Oncology, Södersjukhuset, Stockholm, Sweden., Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany., Harkness EF; Division of Informatics, Imaging and Data Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Nightingale & Genesis Prevention Centre, Wythenshawe Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; NIHR Manchester Biomedical Research Unit, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Hogervorst FBL; Family Cancer Clinic, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, the Netherlands., Hollestelle A; 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., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia., Houdayer C; Department of Genetics, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France., Houlston RS; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK., Howell A; Division of Cancer Sciences, University of Manchester, Manchester, UK., Jakimovska M; Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', MASA, Skopje, Republic of North Macedonia., Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.; Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University, Szczecin, Poland., Jernström H; Oncology, Department of Clinical Sciences in Lund, Lund University, Lund, Sweden., John EM; Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA., Kaaks R; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Kitahara CM; Radiation Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Koutros S; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA., Kraft P; Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA., Kristensen VN; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.; Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway., Lacey JV; Department of Computational and Quantitative Medicine, City of Hope, Duarte, CA, USA.; City of Hope Comprehensive Cancer Center, City of Hope, Duarte, CA, USA., Lambrechts D; Laboratory for Translational Genetics, Department of Human Genetics, KU Leuven, Leuven, Belgium.; VIB Center for Cancer Biology, VIB, Leuven, Belgium., Léoné M; Genetic and Cancer Medical Laboratory HCL-CLB, Hospices Civils de Lyon, Bron, France., Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Lubiński J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Lush M; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., 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.; Biobank of Eastern Finland, Kuopio University Hospital, Kuopio, Finland., Manoochehri M; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy., Margolin S; Department of Oncology, Södersjukhuset, Stockholm, Sweden.; Department of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden., Martinez ME; Moores Cancer Center, University of California San Diego, La Jolla, CA, USA.; Herbert Wertheim School of Public Health and Human Longevity Science, University of California San Diego, La Jolla, CA, USA., Menon U; MRC Clinical Trials Unit, Institute of Clinical Trials & Methodology, University College London, London, UK., 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., Monteiro AN; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, USA., Murphy RA; School of Population and Public Health, University of British Columbia, Vancouver, BC, Canada.; Cancer Control Research, BC Cancer, Vancouver, BC, Canada., Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA., Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Newman WG; 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, UK.; 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, UK., Offit K; Clinical Genetics Research Lab, Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Park SK; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.; Integrated Major in Innovative Medical Science, Seoul National University College of Medicine, Seoul, South Korea.; Cancer Research Institute, Seoul National University, Seoul, Korea., James P; 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, Victoria, Australia., Peterlongo P; Genome Diagnostics Program, IFOM - ETS the AIRC Institute of Molecular Oncology, Milan, Italy., Peto J; Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK., Plaseska-Karanfilska D; Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', MASA, Skopje, Republic of North Macedonia., Punie K; Department of General Medical Oncology and Multidisciplinary Breast Centre, Leuven Cancer Institute and University Hospitals Leuven, Leuven, Belgium., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy., 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., Rennert G; Clalit National Cancer Control Center, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel., Romero A; Medical Oncology Department, Hospital Universitario Puerta de Hierro, Madrid, Spain., Rosenberg EH; Department of Pathology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, the Netherlands., Saloustros E; Department of Oncology, University Hospital of Larissa, Larissa, Greece., Sandler DP; Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA., Schmidt MK; Division of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.; Division of Psychosocial Research and Epidemiology, The Netherlands Cancer Institute - Antoni van Leeuwenhoek hospital, Amsterdam, the Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., 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., Shu XO; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA., Simard J; Genomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Québec City, QC, Canada., 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, Victoria, Australia., Stone J; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.; Genetic Epidemiology Group, School of Population and Global Health, University of Western Australia, Perth, Western Australia, Australia., Stoppa-Lyonnet D; Service de Génétique, Institut Curie, Paris, France.; Department of Tumour Biology, INSERM U830, Paris, France.; Université Paris Descartes, Paris, France., Tamimi RM; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Department of Population Health Sciences, Weill Cornell Medicine, New York, NY, USA., Tapper WJ; Faculty of Medicine, University of Southampton, Southampton, UK., Taylor JA; Epidemiology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA.; Epigenetic and Stem Cell Biology Laboratory, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA., Teo SH; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.; Department of Surgery, Faculty of Medicine, University of Malaya, UM Cancer Research Institute, Kuala Lumpur, Malaysia., Teras LR; Department of Population Science, American Cancer Society, Atlanta, GA, USA., Terry MB; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA., Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark., Troester MA; 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, USA., Vachon CM; Department of Quantitative Health Sciences, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA., Vega A; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Wappenschmidt B; 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., Weinberg CR; Biostatistics and Computational Biology Branch, National Institute of Environmental Health Sciences, NIH, Research Triangle Park, NC, USA., Wolk A; Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Surgical Sciences, Uppsala University, Uppsala, Sweden., Zheng W; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA., Feng B; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Spurdle AB; Population Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., 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., Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA., Michailidou K; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. |
| Corporate Authors: | GC-HBOC study Collaborators, ABCTB Investigators |
| Source: | Human mutation [Hum Mutat] 2023; Vol. 2023. Date of Electronic Publication: 2023 Sep 14. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural |
| 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: | 10.1155/2023/9961341 |
