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FANCM missense variants and breast cancer risk: A case-control association study of 75,156 European women.
Eur. J. Hum. Genet. 31, 578-587 (2023)
Evidence from literature, including the BRIDGES study, indicates that germline protein truncating variants (PTVs) in FANCM confer moderately increased risk of ER-negative and triple-negative breast cancer (TNBC), especially for women with a family history of the disease. Association between FANCM missense variants (MVs) and breast cancer risk has been postulated. In this study, we further used the BRIDGES study to test 689 FANCM MVs for association with breast cancer risk, overall and in ER-negative and TNBC subtypes, in 39,885 cases (7566 selected for family history) and 35,271 controls of European ancestry. Sixteen common MVs were tested individually; the remaining rare 673 MVs were tested by burden analyses considering their position and pathogenicity score. We also conducted a meta-analysis of our results and those from published studies. We did not find evidence for association for any of the 16 variants individually tested. The rare MVs were significantly associated with increased risk of ER-negative breast cancer by burden analysis comparing familial cases to controls (OR = 1.48; 95% CI 1.07-2.04; P = 0.017). Higher ORs were found for the subgroup of MVs located in functional domains or predicted to be pathogenic. The meta-analysis indicated that FANCM MVs overall are associated with breast cancer risk (OR = 1.22; 95% CI 1.08-1.38; P = 0.002). Our results support the definition from previous analyses of FANCM as a moderate-risk breast cancer gene and provide evidence that FANCM MVs could be low/moderate risk factors for ER-negative and TNBC subtypes. Further genetic and functional analyses are necessary to clarify better the increased risks due to FANCM MVs.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Gene; C.5791c-greater-than-t; Pathogenicity; Framework
ISSN (print) / ISBN
1018-4813
e-ISSN
1476-5438
Quellenangaben
Volume: 31,
Issue: 5,
Pages: 578-587
Publisher
Nature Publishing Group
Publishing Place
Campus, 4 Crinan St, London, N1 9xw, England
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Diabetes Research Type 1 (IDF)
Grants
Wellcome Trust
Swedish Cancer Foundation
Susan G. Komen Breast Cancer Foundation
National Death Index and the Australian Cancer Database
Cancer Council of South Australia
Cancer Council of Tasmania
Cancer Council of Victoria
JTC 2012 Cancer
Department of Internal Medicine, Johanniter GmbH Bonn, Johanniter Krankenhaus, Bonn, Germany
Deutsches Krebsforschungszentrum (DKFZ), Heidelberg
Agence Nationale de Securite Sanitaire, de l'Alimentation, de l'Environnement et du Travail (ANSES)
Oxford Biomedical Research Centre
Fondazione Umberto Veronesi
Utah Population Database (UPDB)
HCF
US Center for Disease Control and Prevention's National Program of Cancer Registries
NCI's SEER Program
NCI
University of Utah
HCI (Huntsman Cancer Foundation, HCF)
Utah Cancer Registry (UCR)
Women's Cancer Center at the Huntsman Cancer Institute (HCI)
National Cancer Institute (NCI)
Swedish Research Council
DKFZ
NHS in the East of England through the Clinical Academic Reserve
UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge
Cancer Research UK
US National Institute of Health (NIH)
Agency for Science, Technology and Research of Singapore (A*STAR)
Division of Cancer Prevention, National Cancer Institute, National Institutes of Health
Intramural Research Program of the Division of Cancer Epidemiology and Genetics
Intramural Research Program of the National Institutes of Health, NCI, Division of Cancer Epidemiology and Genetics
Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA
Biobanking and Biomolecular Resources Research Infrastructure
USA National Cancer Institute of the National Institutes of Health
Norwegian Cancer Society
South Eastern Norway Health Authority
Research Council of Norway grant
K.G. Jebsen Centre for Breast Cancer Research
Australian National Health and Medical Research Council
Italian Association for Cancer Research (AIRC)
Cyprus Institute of Neurology and Genetics
Cyprus Research Promotion Foundation
Federal Ministry of Education and Research (BMBF) Germany
Hamburg Cancer Society
Deutsche Krebshilfe e.V.
NHMRC
National Health and Medical Research Council of Australia (NHMRC)
Cancer Council Tasmania
Cancer Council South Australia
Cancer Council New South Wales
United States Army Medical Research and Materiel Command
Cancer Foundation of Western Australia
Cancer Council of New South Wales
Queensland Cancer Fund
National Health and Medical Research Council (NHMRC)
National Breast Cancer Foundation
University of Eastern Finland
Finnish Cancer Organizations
Cancer Fund of North Savo
special Government Funding (VTR) of Kuopio University Hospital
Marit and Hans Rausings Initiative Against Breast Cancer
Bert von Kantzows foundation
Gustav V Jubilee foundation
Swedish Cancer Society
Karolinska Institutet
Stockholm County Council
Ministry of Science and Higher Education of the Russian Federation
Government of Russian Federation
Russian Foundation for Basic Research
German Federal Ministry of Research and Education
Friends of Hannover Medical School
BBMRI grant
Pink Ribbon
Netherlands Organisation of Scientific Research grant
Cancer Foundation Finland
Sigrid Juselius Foundation
Helsinki University Hospital Research Fund
Rudolf Bartling Foundation
Lower Saxonian Cancer Society
Claudia von Schilling Foundation for Breast Cancer Research
Deutsche Krebshilfe e. V.
Medical Research Council UK
Scottish Funding Council
Chief Scientist Office of the Scottish Government Health Directorates
Institute of the Ruhr University Bochum (IPA), Bochum
Institute for Prevention and Occupational Medicine of the German Social Accident Insurance
Robert Bosch Foundation, Stuttgart
Free State of Saxony
European Union, by the European Regional Development Fund (ERDF)
Federal Ministry of Education and Research (BMBF), Germany
German Cancer Aid
NIHR Manchester Biomedical Research Centre
NIHR
Fondo de Investigacion Sanitario
Asociacion Espanola Contra el Cancer
Red Tematica de Investigacion Cooperativa en Cancer
Instituto de Salud Carlos III
Agence Nationale de la Recherche (ANR)
Ligue Nationale contre le Cancer
Institut National du Cancer (INCa)
Fondation de France
University of Crete
German Cancer Research Center (DKFZ)
Helmholtz Society
Dietmar-Hopp Foundation
Grant FEDER-Innterconecta. Ministerio de Economia y Competitividad, Xunta de Galicia, Spain
Fomento de la Investigacion Clinica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain
Conselleria de Industria Programa Sectorial de Investigacion Aplicada, PEME I + D e I+ D Suma del Plan Gallego de Investigacion, Desarrollo e Innovacion Tecnologica de la Conselleria de Industria de la Xunta de Galicia, Spain
Programa Grupos Emergentes, Cancer Genetics Unit, Instituto de Investigacion Biomedica Galicia Sur. Xerencia de Xestion Integrada de Vigo-SERGAS, Instituto de Salud Carlos III, Spain
Accion Estrategica de Salud del Instituto de Salud Carlos III FIS Intrasalud
FEDER
Accion Estrategica de Salud del Instituto de Salud Carlos III
King's College London, United Kingdom
Guy's & St. Thomas' NHS Foundation Trust
NIHR Comprehensive Biomedical Research Centre
ELAN-Fond of the University Hospital of Erlangen
Dutch Cancer Society
European Union Horizon 2020 research and innovation program BRIDGES
National Cancer Institute Intramural Research Program, National Institutes of Health
Quebec Breast Cancer Foundation
Ministere de l'Economie et de l'Innovation du Quebec through Genome Quebec
Canadian Institutes of Health Research
Government of Canada through Genome Canada
European Union's Horizon 2020 Research and Innovation Programme
Associazione Italiana Ricerca sul Cancro (AIRC)
Swedish Cancer Foundation
Susan G. Komen Breast Cancer Foundation
National Death Index and the Australian Cancer Database
Cancer Council of South Australia
Cancer Council of Tasmania
Cancer Council of Victoria
JTC 2012 Cancer
Department of Internal Medicine, Johanniter GmbH Bonn, Johanniter Krankenhaus, Bonn, Germany
Deutsches Krebsforschungszentrum (DKFZ), Heidelberg
Agence Nationale de Securite Sanitaire, de l'Alimentation, de l'Environnement et du Travail (ANSES)
Oxford Biomedical Research Centre
Fondazione Umberto Veronesi
Utah Population Database (UPDB)
HCF
US Center for Disease Control and Prevention's National Program of Cancer Registries
NCI's SEER Program
NCI
University of Utah
HCI (Huntsman Cancer Foundation, HCF)
Utah Cancer Registry (UCR)
Women's Cancer Center at the Huntsman Cancer Institute (HCI)
National Cancer Institute (NCI)
Swedish Research Council
DKFZ
NHS in the East of England through the Clinical Academic Reserve
UK National Institute for Health Research Biomedical Research Centre at the University of Cambridge
Cancer Research UK
US National Institute of Health (NIH)
Agency for Science, Technology and Research of Singapore (A*STAR)
Division of Cancer Prevention, National Cancer Institute, National Institutes of Health
Intramural Research Program of the Division of Cancer Epidemiology and Genetics
Intramural Research Program of the National Institutes of Health, NCI, Division of Cancer Epidemiology and Genetics
Intramural Research Funds of the National Cancer Institute, Department of Health and Human Services, USA
Biobanking and Biomolecular Resources Research Infrastructure
USA National Cancer Institute of the National Institutes of Health
Norwegian Cancer Society
South Eastern Norway Health Authority
Research Council of Norway grant
K.G. Jebsen Centre for Breast Cancer Research
Australian National Health and Medical Research Council
Italian Association for Cancer Research (AIRC)
Cyprus Institute of Neurology and Genetics
Cyprus Research Promotion Foundation
Federal Ministry of Education and Research (BMBF) Germany
Hamburg Cancer Society
Deutsche Krebshilfe e.V.
NHMRC
National Health and Medical Research Council of Australia (NHMRC)
Cancer Council Tasmania
Cancer Council South Australia
Cancer Council New South Wales
United States Army Medical Research and Materiel Command
Cancer Foundation of Western Australia
Cancer Council of New South Wales
Queensland Cancer Fund
National Health and Medical Research Council (NHMRC)
National Breast Cancer Foundation
University of Eastern Finland
Finnish Cancer Organizations
Cancer Fund of North Savo
special Government Funding (VTR) of Kuopio University Hospital
Marit and Hans Rausings Initiative Against Breast Cancer
Bert von Kantzows foundation
Gustav V Jubilee foundation
Swedish Cancer Society
Karolinska Institutet
Stockholm County Council
Ministry of Science and Higher Education of the Russian Federation
Government of Russian Federation
Russian Foundation for Basic Research
German Federal Ministry of Research and Education
Friends of Hannover Medical School
BBMRI grant
Pink Ribbon
Netherlands Organisation of Scientific Research grant
Cancer Foundation Finland
Sigrid Juselius Foundation
Helsinki University Hospital Research Fund
Rudolf Bartling Foundation
Lower Saxonian Cancer Society
Claudia von Schilling Foundation for Breast Cancer Research
Deutsche Krebshilfe e. V.
Medical Research Council UK
Scottish Funding Council
Chief Scientist Office of the Scottish Government Health Directorates
Institute of the Ruhr University Bochum (IPA), Bochum
Institute for Prevention and Occupational Medicine of the German Social Accident Insurance
Robert Bosch Foundation, Stuttgart
Free State of Saxony
European Union, by the European Regional Development Fund (ERDF)
Federal Ministry of Education and Research (BMBF), Germany
German Cancer Aid
NIHR Manchester Biomedical Research Centre
NIHR
Fondo de Investigacion Sanitario
Asociacion Espanola Contra el Cancer
Red Tematica de Investigacion Cooperativa en Cancer
Instituto de Salud Carlos III
Agence Nationale de la Recherche (ANR)
Ligue Nationale contre le Cancer
Institut National du Cancer (INCa)
Fondation de France
University of Crete
German Cancer Research Center (DKFZ)
Helmholtz Society
Dietmar-Hopp Foundation
Grant FEDER-Innterconecta. Ministerio de Economia y Competitividad, Xunta de Galicia, Spain
Fomento de la Investigacion Clinica Independiente, Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain
Conselleria de Industria Programa Sectorial de Investigacion Aplicada, PEME I + D e I+ D Suma del Plan Gallego de Investigacion, Desarrollo e Innovacion Tecnologica de la Conselleria de Industria de la Xunta de Galicia, Spain
Programa Grupos Emergentes, Cancer Genetics Unit, Instituto de Investigacion Biomedica Galicia Sur. Xerencia de Xestion Integrada de Vigo-SERGAS, Instituto de Salud Carlos III, Spain
Accion Estrategica de Salud del Instituto de Salud Carlos III FIS Intrasalud
FEDER
Accion Estrategica de Salud del Instituto de Salud Carlos III
King's College London, United Kingdom
Guy's & St. Thomas' NHS Foundation Trust
NIHR Comprehensive Biomedical Research Centre
ELAN-Fond of the University Hospital of Erlangen
Dutch Cancer Society
European Union Horizon 2020 research and innovation program BRIDGES
National Cancer Institute Intramural Research Program, National Institutes of Health
Quebec Breast Cancer Foundation
Ministere de l'Economie et de l'Innovation du Quebec through Genome Quebec
Canadian Institutes of Health Research
Government of Canada through Genome Canada
European Union's Horizon 2020 Research and Innovation Programme
Associazione Italiana Ricerca sul Cancro (AIRC)