ArticlemedRxiv : the preprint server for health sciences2024
Analysis of more than 400,000 women provides case-control evidence for
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Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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106 authors.
Maria ZantiBiostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.ORCID 0000-0002-0136-9921
Denise G O'MahonyBiostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.ORCID 0000-0002-7212-0920
Michael T ParsonsPublic Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-3242-8477
Leila DorlingCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Joe DennisCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.ORCID 0000-0003-4591-1214
Nicholas J BoddickerDepartment of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0002-6784-2072
Wenan ChenDepartment of Quantitative Health Sciences, Division of Computational Biology, Mayo Clinic, Rochester, MN, USA.
Chunling HuDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Marc NavenCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Kristia YiangouBiostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.ORCID 0009-0005-2559-9747
Thomas U AhearnDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Christine B AmbrosoneDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Institute, Buffalo, NY, USA.
Irene L AndrulisFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Antonis C AntoniouCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Paul L AuerDivision of Biostatistics, Data Science Institute and Cancer Center, Medical College of Wisconsin, Milwaukee, WI, USA.
Caroline BaynesCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Clara BodelonDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Natalia V BogdanovaRadiation Oncology Research Unit, Hannover Medical School, Hannover, Germany.
Stig E BojesenCopenhagen General Population Study, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Manjeet K BollaCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Kristen D BrantleyDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Nicola J CampDepartment of Internal Medicine and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA.
Archie CampbellCentre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, The University of Edinburgh, Edinburgh, UK.
Jose E CastelaoOncology and Genetics Unit, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS) Foundation, Complejo Hospitalario Universitario de Santiago, SERGAS, Vigo, Spain.
Melissa H CessnaDepartment of Pathology and Intermountatin Biorepository, Intermountain Health, Salt Lake City, UT, USA.
Jenny Chang-ClaudeDivision of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Fei ChenDepartment of Population and Public Health Sciences, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA, USA.
Georgia Chenevix-TrenchCancer Research Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-1878-2587
NBCS Collaborators
Don M ConroyCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Kamila CzeneDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Arcangela De NicoloCenter for Omics Sciences, IRCCS San Raffaele Scientific Institute, Milan, Italy.
Susan M DomchekBasser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.
Alison M DunningCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
A Heather EliassenChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
D Gareth EvansDivision 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.
Peter A FaschingDepartment of Gynecology and Obstetrics, Comprehensive Cancer Center Erlangen-EMN, Friedrich-Alexander University Erlangen-Nuremberg, University Hospital Erlangen, Erlangen, Germany.
Jonine D FigueroaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
Henrik FlygerDepartment of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
Manuela Gago-DominguezCancer Genetics and Epidemiology Group, Genomic Medicine 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.
Montserrat García-ClosasDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.ORCID 0000-0003-1033-2650
Gord GlendonFred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario, Canada.
Anna González-NeiraHuman Genotyping Unit-CeGen, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Felix GrassmannInstitute for Clinical Research, Health and Medical University, Potsdam, Germany.
Andreas HadjisavvasDepartment of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Christopher A HaimanDepartment of Population and Public Health Sciences, Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, Los Angeles, CA, USA.
Ute HamannMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Steven N HartDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0001-7714-2734
Mikael B A HartmanSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore City, Singapore.
Weang-Kee HoCancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
James M HodgeDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Reiner HoppeDr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
Sacha J HowellDivision of Cancer Sciences, University of Manchester, Manchester, UK.
kConFab Investigators
Anna JakubowskaDepartment of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland.ORCID 0000-0002-5650-0501
Elza K KhusnutdinovaInstitute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, Ufa, Russia.
Yon-Dschun KoDepartment of Internal Medicine, Johanniter GmbH Bonn, Johanniter Krankenhaus, Bonn, Germany.
Peter KraftDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Vessela N KristensenInstitute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
James V LaceyDepartment of Computational and Quantitative Medicine, City of Hope, Duarte, CA, USA.
Jingmei LiHuman Genetics Division, Genome Institute of Singapore, Agency for Science, Technology and Research (A*STAR), Singapore City, Singapore.ORCID 0000-0001-8587-7511
Geok Hoon LimBreast Department, KK Women's and Children's Hospital, Singapore City, Singapore.
Sara LindströmDepartment of Epidemiology, University of Washington, Seattle, WA, USA.
Artitaya LophatananonDivision of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
Craig LuccariniCentre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.
Arto MannermaaTranslational Cancer Research Area, University of Eastern Finland, Kuopio, Finland.
Maria Elena MartinezMoores Cancer Center, University of California San Diego, La Jolla, CA, USA.
Dimitrios MavroudisDepartment of Medical Oncology, University Hospital of Heraklion, Heraklion, Greece.
Roger L MilneCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Kenneth MuirDivision of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.
Katherine L NathansonBasser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA.
Rocio Nuñez-TorresHuman Genotyping Unit-CeGen, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Nadia ObiInstitute for Medical Biometry and Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Janet E OlsonDepartment of Quantitative Health Sciences, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Julie R PalmerSlone Epidemiology Center, Boston University, Boston, MA, USA.
Mihalis I PanayiotidisDepartment of Cancer Genetics, Therapeutics and Ultrastructural Pathology, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.ORCID 0000-0002-1450-3552
Alpa V PatelDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Paul D P PharoahDepartment of Computational Biomedicine, Cedars-Sinai Medical Center, West Hollywood, CA, USA.ORCID 0000-0001-8494-732X
Eric C PolleyDepartment of Public Health Sciences, University of Chicago, Chicago, IL, USA.
Muhammad U RashidMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Kathryn J RuddyDepartment of Oncology, Mayo Clinic, Rochester, MN, USA.
Emmanouil SaloustrosDivision of Oncology, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.
Elinor J SawyerSchool of Cancer & Pharmaceutical Sciences, Comprehensive Cancer Centre, Guy's Campus, King's College London, London, UK.
Marjanka K SchmidtDivision of Molecular Pathology, The Netherlands Cancer Institute, Amsterdam, the Netherlands.ORCID 0000-0002-2228-429X
Melissa C SoutheyCancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Veronique Kiak-Mien TanDuke-NUS Medical School, Singapore City, Singapore.
Soo Hwang TeoBreast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.
Lauren R TerasDepartment of Population Science, American Cancer Society, Atlanta, GA, USA.
Diana TorresMolecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Amy Trentham-DietzCarbone Cancer Center and Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI, USA.
Thérèse TruongTeam 'Exposome and Heredity', CESP, Gustave Roussy, INSERM, University Paris-Saclay, UVSQ, Villejuif, France.
Celine M VachonDepartment of Quantitative Health Sciences, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Qin WangCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jeffrey N WeitzelUniversity of Kansas Cancer Center, Kansas City, KS, USA.ORCID 0000-0001-6714-092X
Siddhartha YadavDepartment of Oncology, Mayo Clinic, Rochester, MN, USA.
Song YaoDepartment of Cancer Prevention and Control, Roswell Park Comprehensive Cancer Institute, Buffalo, NY, USA.
Gary R ZirpoliSlone Epidemiology Center, Boston University, Boston, MA, USA.
Melissa S ClineUC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.ORCID 0000-0002-0148-1956
Peter DevileeDepartment of Pathology, Leiden University Medical Center, Leiden, the Netherlands.ORCID 0000-0002-8023-2009
Sean V TavtigianDepartment of Oncological Services, University of Utah School of Medicine, Salt Lake City, UT, USA.
David E GoldgarDepartment of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.
Fergus J CouchDepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Douglas F EastonCentre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Amanda B SpurdlePublic Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
Kyriaki MichailidouBiostatistics Unit, The Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.ORCID 0000-0001-7065-1237
Funding
The Role of CHFR in Tumorigenesis and Paclitaxel-Sensitivity in Breast CancerP50CA116201 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2005 to 2026
$49.9MTraining Program in Cancer EpidemiologyT32CA009001 · NCI · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI A. Heather Eliassen, Meir Stampfer · 1985 to 2026
$17.3MResolving the cancer relevance of predisposition gene mutationsR35CA253187 · NCI · MAYO CLINIC ROCHESTER · PI Fergus Joseph Couch · 2020 to 2026
$5.8MThe contribution of RAD51C and RAD51D to breast and ovarian cancerR01CA225662 · NCI · MAYO CLINIC ROCHESTER · PI COUCH, FERGUS JOSEPH, WEROHA, SARAVUT · 2018 to 2024
$2.5MNCI NIH HHS P50 CA116201NCI NIH HHS R01 CA225662NCI NIH HHS R35 CA253187NCI NIH HHS T32 CA009001Wellcome Trust
Abstract
Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS, and previous findings indicate that case-control likelihood ratios (LRs) outperform odds ratios for variant classification. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyzed germline sequencing data of
Indexed as
BRCA1BRCA2case-controllikelihood ratioodds ratiorare variantVUS
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.