The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

Predisposició al càncer de mama; Factors de risc de càncer de mama; Espectre de mutació

Detalles Bibliográficos
Autores: Figlioli, Gisella, Kvist, Anders, Tham, Emma, Soukupova, Jana, Kleiblova, Petra, Muranen, Taru A, Balmaña Gelpí, Judith, Diez Gibert, Orland
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Departament de Salut de la Generalitat de Catalunya (DS)
Repositorio:Scientia. Dipòsit d'Informació Digital del Departament de Salut
OAI Identifier:oai:scientiasalut.gencat.cat:11351/6234
Acceso en línea:https://hdl.handle.net/11351/6234
Access Level:acceso abierto
Palabra clave:Mama - Càncer
Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama
Otros calificadores::Otros calificadores::Otros calificadores::/genética
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dc.title.none.fl_str_mv The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
spellingShingle The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
Figlioli, Gisella
Mama - Càncer
Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama
Otros calificadores::Otros calificadores::Otros calificadores::/genética
title_short The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title_full The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title_fullStr The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title_full_unstemmed The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title_sort The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
dc.creator.none.fl_str_mv Figlioli, Gisella
Kvist, Anders
Tham, Emma
Soukupova, Jana
Kleiblova, Petra
Muranen, Taru A
Balmaña Gelpí, Judith
Diez Gibert, Orland
author Figlioli, Gisella
author_facet Figlioli, Gisella
Kvist, Anders
Tham, Emma
Soukupova, Jana
Kleiblova, Petra
Muranen, Taru A
Balmaña Gelpí, Judith
Diez Gibert, Orland
author_role author
author2 Kvist, Anders
Tham, Emma
Soukupova, Jana
Kleiblova, Petra
Muranen, Taru A
Balmaña Gelpí, Judith
Diez Gibert, Orland
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Figlioli G] Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan, Italy. [Kvist A] Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden. [Tham E] Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. [Soukupova J] Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic. [Kleiblova P] Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. [Muranen TA] Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki, Finland. [Balmaña J] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Mama - Càncer
Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama
Otros calificadores::Otros calificadores::Otros calificadores::/genética
topic Mama - Càncer
Càncer - Aspectes genètics
DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
Other subheadings::Other subheadings::Other subheadings::/genetics
ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama
Otros calificadores::Otros calificadores::Otros calificadores::/genética
description Predisposició al càncer de mama; Factors de risc de càncer de mama; Espectre de mutació
publishDate 2020
dc.date.none.fl_str_mv 2020
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/6234
url https://hdl.handle.net/11351/6234
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Cancers;12(2)
https://www.mdpi.com/2072-6694/12/2/292
info:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F00440
info:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F00640
info:eu-repo/grantAgreement/ES/PE2013-2016/INT15%2F00070
info:eu-repo/grantAgreement/ES/PE2013-2016/INT16%2F00154
info:eu-repo/grantAgreement/ES/PE2013-2016/INT17%2F00133
info:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F00563
info:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F00553
info:eu-repo/grantAgreement/ES/PERIS2016-2020/2017SGR1282
info:eu-repo/grantAgreement/ES/PERIS2016-2020/2017SGR496
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
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dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Scientia
reponame:Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname:Departament de Salut de la Generalitat de Catalunya (DS)
instname_str Departament de Salut de la Generalitat de Catalunya (DS)
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spelling The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer CasesFiglioli, GisellaKvist, AndersTham, EmmaSoukupova, JanaKleiblova, PetraMuranen, Taru ABalmaña Gelpí, JudithDiez Gibert, OrlandMama - CàncerCàncer - Aspectes genèticsDISEASES::Neoplasms::Neoplasms by Site::Breast NeoplasmsOther subheadings::Other subheadings::Other subheadings::/geneticsENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mamaOtros calificadores::Otros calificadores::Otros calificadores::/genéticaPredisposició al càncer de mama; Factors de risc de càncer de mama; Espectre de mutacióPredisposición al cáncer de mama; Factores de riesgo de cáncer de mama; Espectro de mutaciónBreast cancer predisposition; Breast cancer risk factors; Mutation spectrumGermline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2–4-fold increased breast cancer risk in case-control studies conducted in different European populations. However, the distribution and the frequency of FANCM PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with FANCM PTVs ascertained in 20 centers from 13 European countries. We identified 27 different FANCM PTVs. The p.Gln1701* PTV is the most common PTV in Northern Europe with a maximum frequency in Finland and a lower relative frequency in Southern Europe. On the contrary, p.Arg1931* seems to be the most common PTV in Southern Europe. We also showed that p.Arg658*, the third most common PTV, is more frequent in Central Europe, and p.Gln498Thrfs*7 is probably a founder variant from Lithuania. Of the 23 rare or unique FANCM PTVs, 15 have not been previously reported. We provide here the initial spectrum of FANCM PTVs in European breast cancer cases.This research was partially funded by Associazione Italiana Ricerca sul Cancro (AIRC; IG2015 no.16732) to P. Peterlongo, a fellowship from Fondazione Umberto Veronesi to G. Figlioli and by the Italian Ministry of Health with Ricerca Corrente and 5x1000 funds. E. Tham is supported by Region Stockholm (ALF). The Czech study was supported by a grant of the Ministry of Health of the Czech Republic NV16-29959A. CNIO study was partially supported by projects PI16/00440 and PI19/00640, supported by the Instituto de Salud Carlos III, cofunded by European Regional Development Fund (ERDF), the Spanish Network on Rare Diseases (CIBERER) and BRIDGES project H2020. Financial support for GENESIS resource and genotyping was provided by the Ligue Nationale contre le Cancer (grants PRE05/DSL, PRE07/DSL, PRE11/NA), the French National Institute of Cancer (INCa grant No b2008-029/LL-LC) and the comprehensive cancer center SiRIC, (Site de Recherche Intégrée sur le Cancer: Grant INCa-DGOS-4654). HEBCS was funded by Helsinki University Hospital Research Fund, Sigrid Juselius Foundation, The cancer Society of Finland. A.Vega is supported by the Spanish Health Research Foundation, Instituto de Salud Carlos III (ISCIII) through Research Activity Intensification Program (contract grant numbers: INT15/00070, INT16/00154, INT17/00133), and through Centro de Investigación Biomédica en Red de Enferemdades Raras CIBERER (ACCI 2016: ER17P1AC7112/2018); Autonomous Government of Galicia (Consolidation and structuring program: IN607B), and by the Fundación Mutua Madrileña (call 2018). This work was supported by the Australian National Health and Medical Research Council (APP1029974 and APP1074383) and by a Victorian Life Sciences Computation Initiative grant (number VR0182) on its Peak Computing Facility, an initiative of the Victorian Government. T.N-D is a Career Development Fellow of the National Breast Cancer Foundation (Australia, ECF-17-001). M.C.S. is a National Health and Medical Research Council (Australia) Senior Research Fellow. The Hungarian Breast and Ovarian Cancer Study was supported by Hungarian Research Grants KTIA-OTKA CK-80745 and NKFI OTKA K-112228 to E. Olah. Lithuanian study was supported by The Research Council of Lithuania grant SEN18/2015 and P-MIP-20-25 to R. Janavicius. The ICO was supported by the Carlos III National Health Institute funded by FEDER funds—a way to build Europe—[PI16/00563, PI19/00553 and CIBERONC]; the Government of Catalonia [Pla estratègic de recerca i innovació en salut (PERIS) Project MedPerCan, 2017SGR1282 and 2017SGR496]; and CERCA program.MDPIInstitut Català de la Salut[Figlioli G] Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan, Italy. [Kvist A] Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden. [Tham E] Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. [Soukupova J] Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic. [Kleiblova P] Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. [Muranen TA] Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki, Finland. [Balmaña J] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202120212020info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttps://hdl.handle.net/11351/6234Scientiareponame:Scientia. Dipòsit d'Informació Digital del Departament de Salutinstname:Departament de Salut de la Generalitat de Catalunya (DS)InglésCancers;12(2)https://www.mdpi.com/2072-6694/12/2/292info:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F00440info:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F00640info:eu-repo/grantAgreement/ES/PE2013-2016/INT15%2F00070info:eu-repo/grantAgreement/ES/PE2013-2016/INT16%2F00154info:eu-repo/grantAgreement/ES/PE2013-2016/INT17%2F00133info:eu-repo/grantAgreement/ES/PE2013-2016/PI16%2F00563info:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F00553info:eu-repo/grantAgreement/ES/PERIS2016-2020/2017SGR1282info:eu-repo/grantAgreement/ES/PERIS2016-2020/2017SGR496Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:scientiasalut.gencat.cat:11351/62342026-06-12T09:38:37Z
score 15,81155

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