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Please use this identifier to cite or link to this item: https://repository.monashhealth.org/monashhealthjspui/handle/1/29416
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dc.contributor.authorTorngren T.en
dc.contributor.authorTeixeira M.en
dc.contributor.authorToss A.en
dc.contributor.authorUrioste M.en
dc.contributor.authorVega A.en
dc.contributor.authorVlckova Z.en
dc.contributor.authorYannoukakos D.en
dc.contributor.authorZampiga V.en
dc.contributor.authorKleibl Z.en
dc.contributor.authorRadice P.en
dc.contributor.authorNevanlinna H.en
dc.contributor.authorEhrencrona H.en
dc.contributor.authorJanavicius R.en
dc.contributor.authorPeterlongo P.en
dc.contributor.authorFiglioli G.en
dc.contributor.authorKvist A.en
dc.contributor.authorTham E.en
dc.contributor.authorSoukupova J.en
dc.contributor.authorKleiblova P.en
dc.contributor.authorMuranen T.A.en
dc.contributor.authorAndrieu N.en
dc.contributor.authorAzzollini J.en
dc.contributor.authorBalmana J.en
dc.contributor.authorBarroso A.en
dc.contributor.authorBenitez J.en
dc.contributor.authorBertelsen B.en
dc.contributor.authorBlanco A.en
dc.contributor.authorBonanni B.en
dc.contributor.authorBorg A.en
dc.contributor.authorBrunet J.en
dc.contributor.authorCalistri D.en
dc.contributor.authorCalvello M.en
dc.contributor.authorChvojka S.en
dc.contributor.authorCortesi L.en
dc.contributor.authorDarder E.en
dc.contributor.authorDel Valle J.en
dc.contributor.authorDiez O.en
dc.contributor.authorEon-Marchais S.en
dc.contributor.authorFostira F.en
dc.contributor.authorGensini F.en
dc.contributor.authorHoudayer C.en
dc.contributor.authorJanatova M.en
dc.contributor.authorKiiski J.I.en
dc.contributor.authorKonstantopoulou I.en
dc.contributor.authorKubelka-Sabit K.en
dc.contributor.authorLazaro C.en
dc.contributor.authorLesueur F.en
dc.contributor.authorManoukian S.en
dc.contributor.authorMarcinkute R.en
dc.contributor.authorMickys U.en
dc.contributor.authorMoncoutier V.en
dc.contributor.authorMyszka A.en
dc.contributor.authorNguyen-Dumont T.en
dc.contributor.authorNielsen F.C.en
dc.contributor.authorNorvilas R.en
dc.contributor.authorOlah E.en
dc.contributor.authorOsorio A.en
dc.contributor.authorPapi L.en
dc.contributor.authorPeissel B.en
dc.contributor.authorPeixoto A.en
dc.contributor.authorPlaseska-Karanfilska D.en
dc.contributor.authorPocza T.en
dc.contributor.authorRossing M.en
dc.contributor.authorRudaitis V.en
dc.contributor.authorSantamarina M.en
dc.contributor.authorSantos C.en
dc.contributor.authorSmichkoska S.en
dc.contributor.authorSouthey M.C.en
dc.contributor.authorStoppa-Lyonnet D.en
dc.date.accessioned2021-05-14T09:56:53Zen
dc.date.available2021-05-14T09:56:53Zen
dc.date.copyright2020en
dc.date.created20200214en
dc.date.issued2020-02-14en
dc.identifier.citationCancers. 12 (2) (no pagination), 2020. Article Number: 292. Date of Publication: February 2020.en
dc.identifier.issn2072-6694 (electronic)en
dc.identifier.urihttps://repository.monashhealth.org/monashhealthjspui/handle/1/29416en
dc.description.abstractGermline 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.Copyright © 2020 by the authors. Licensee MDPI, Basel, Switzerland.en
dc.languageEnglishen
dc.languageenen
dc.publisherMDPI AG (Postfach, Basel CH-4005, Switzerland. E-mail: indexing@mdpi.com)en
dc.relation.ispartofCancersen
dc.subject.meshGreece-
dc.subject.meshaged-
dc.subject.meshCzech Republic-
dc.subject.meshDenmark-
dc.subject.meshestrogen receptor negative breast cancer-
dc.subject.meshestrogen receptor positive breast cancer-
dc.subject.meshFinland-
dc.subject.meshFrance-
dc.subject.meshgene-
dc.subject.meshgene frequency-
dc.subject.meshgene sequence-
dc.subject.meshgenetic association-
dc.subject.meshgenetic variability-
dc.subject.meshHungary-
dc.subject.meshLithuania-
dc.subject.meshPoland-
dc.subject.meshPortugal-
dc.subject.meshSpain-
dc.subject.meshSweden-
dc.subject.meshtumor suppressor gene-
dc.subject.meshvery elderly-
dc.subject.meshFANCM gene-
dc.subject.meshprotein truncating variant-
dc.titleThe spectrum of fancm protein truncating variants in European breast cancer cases.en
dc.typeArticleen
dc.identifier.affiliationMonash University - School of Clinical Sciences at Monash Health-
dc.identifier.doihttp://monash.idm.oclc.org/login?url=http://dx.doi.org/10.3390/cancers12020292-
dc.publisher.placeSwitzerlanden
dc.identifier.source2003703427en
dc.identifier.institution(Figlioli, Peterlongo) IFOM-the FIRC Institute for Molecular Oncology, Milan 20139, Italy (Kvist, Borg, Torngren) Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-22381, Sweden (Tham) Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm 17176, Sweden (Soukupova, Janatova, Kleibl) Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague 12853, Czechia (Kleiblova) Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague 12800, Czechia (Muranen, Kiiski, Nevanlinna) Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki 00029, Finland (Andrieu, Eon-Marchais, Lesueur) Inserm, U900, Institut Curie, PSL University, Paris F-75005, France (Andrieu, Eon-Marchais, Lesueur) Mines ParisTech, Fontainebleau F-77300, France (Azzollini, Manoukian, Peissel) Department of Medical Oncology and Hematology, Unit of Medical Genetics Fondazione, IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy (Balmana, Diez) Hereditary Cancer Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona 08035, Spain (Balmana) Department of Medical Oncology, University Hospital Vall d'Hebron, Barcelona 08035, Spain (Barroso, Benitez, Osorio) Human Genetics Group, Spanish National Cancer Research Centre, Madrid 28029, Spain (Benitez, Osorio) Spanish Network on Rare Diseases (CIBERER), Madrid 28029, Spain (Benitez) Genotyping Unit, CEGEN, Spanish National Cancer Research Centre, Madrid 28029, Spain (Bertelsen, Nielsen, Rossing) Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark (Blanco, Santamarina, Vega) Fundacion Publica Galega Medicina Xenomica-SERGAS, Santiago de Compostela 15706, Spain (Blanco, Santamarina, Vega) Instituto de Investigacion Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela 15706, Spain (Blanco, Santamarina, Vega) Centro de Investigacion en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain (Bonanni, Calvello) Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan 20141, Italy (Brunet, Darder, Del Valle, Lazaro) Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDIBGI-IGTP, CIBERONC, Barcelona 08908, Spain (Calistri, Zampiga) Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola 47014, Italy (Chvojka) Centre for Medical Genetics and Reproductive Medicine, Gennet, Prague 17000, Czechia (Cortesi, Toss) University Modena Hospital, Modena 41124, Italy (Diez) Area of Molecular and Clinical Genetics, University Hospital Vall d'Hebron, Barcelona 08035, Spain (Fostira, Konstantopoulou, Yannoukakos) InRASTES, Molecular Diagnostics Laboratory, National Centre for Scientific Research "Demokritos", Athens 15310, Greece (Gensini, Papi) Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence 50134, Italy (Houdayer) Genetics Department, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France (Kubelka-Sabit) Department of Histopathology and Cytology, Clinical Hospital Acibadem Sistina, Skopje 1000, North Macedonia (Marcinkute, Norvilas, Janavicius) Hereditary Cancer Center, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania (Mickys) National Center of Pathology, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania (Moncoutier, Stoppa-Lyonnet) Service de Genetique, Institut Curie, Inserm, U830, Paris Descartes University, Paris F-75005, France (Myszka) Institute of Medical Sciences, University of Rzeszow, Rzeszow 35-310, Poland (Nguyen-Dumont, Southey) Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton 3168, Australia (Nguyen-Dumont, Southey) Department of Clinical Pathology, The University of Melbourne, Melbourne 3010, Australia (Norvilas, Janavicius) Department of experimental, preventive and clinical medicine, State Research Institute Centre for Innovative Medicine, Vilnius 08410, Lithuania (Olah, Pocza) Department of Molecular Genetics, National Institute of Oncology, Budapest 1122, Hungary (Peixoto, Santos, Teixeira) Department of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto 4200-072, Portugal (Plaseska-Karanfilska) Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje 1000, North Macedonia (Rudaitis) Department of Gynaecology, Center of Obsterics and Gynaecology, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania (Smichkoska) Medical Faculty, University Clinic of Radiotherapy and Oncology, Ss. Cyril and Methodius University in Skopje, Skopje 1000, North Macedonia (Teixeira) Biomedical Sciences Institute, University of Porto, Porto 4050-313, Portugal (Urioste) Familial Cancer Clinical Unit, Spanish National Cancer Research Centre, Madrid 28029, Spain (Vlckova) Department of Medical Genetics, GHC Genetics, Prague 11000, Czechia (Radice) Department of Research, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy (Ehrencrona) Office for Medical Services, Region Skane, Department of Clinical Genetics and Pathology, Laboratory Medicine, Lund SE-22100, Sweden (Ehrencrona) Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund SE-22100, Swedenen
dc.description.addressP. Peterlongo, IFOM-the FIRC Institute for Molecular Oncology, Milan 20139, Italy. E-mail: paolo.peterlongo@ifom.euen
dc.description.publicationstatusEmbaseen
dc.rights.statementCopyright 2020 Elsevier B.V., All rights reserved.en
dc.subect.keywordsBreast cancer predisposition Breast cancer risk factors FANCM truncating variants Mutation spectrum PTVsen
dc.identifier.authoremailFiglioli G.; gisella.figlioli@ifom.eu Peterlongo P.; paolo.peterlongo@ifom.eu Kvist A.; Anders.Kvist@med.lu.se Borg A.; ake.borg@med.lu.se Torngren T.; Therese.Torngren@med.lu.se Tham E.; Emma.Tham@ki.se Soukupova J.; jana.soukupova@lf1.cuni.cz Janatova M.; mjana@lf1.cuni.cz Kleibl Z.; zdekleje@lf1.cuni.cz Kleiblova P.; pekleje@lf1.cuni.cz Muranen T.A.; taru.a.muranen@helsinki.fi Kiiski J.I.; johanna.kiiski@helsinki.fi Nevanlinna H.; Heli.Nevanlinna@hus.fi Andrieu N.; nadine.andrieu@curie.fr Eon-Marchais S.; Severine.Eon-Marchais@curie.fr Lesueur F.; fabienne.lesueur@curie.fr Azzollini J.; Jacopo.Azzollini@istitutotumori.mi.it Manoukian S.; Siranoush.Manoukian@istitutotumori.mi.it Peissel B.; bernard.peissel@istitutotumori.mi.it Balmana J.; Jbalmana@vhebron.net Barroso A.; abarroso@cnio.es Osorio A.; aosorio@cnio.es Benitez J.; jbenitez@cnio.es Bertelsen B.; Birgitte.Bertelsen@regionh.dk Nielsen F.C.; finn.cilius.nielsen@regionh.dk Rossing M.; caroline.maria.rossing@regionh.dk Blanco A.; ana.blanco@usc.es Santamarina M.; santamarinapena@gmail.com Vega A.; ana.vega@usc.es Bonanni B.; bernardo.bonanni@ieo.it Calvello M.; mariarosaria.calvello@ieo.it Brunet J.; Jbrunet@iconcologia.net Darder E.; edarder@iconcologia.net Del Valle J.; jdelvalle@iconcologia.net Lazaro C.; conxi.lazaro@gmail.com Calistri D.; daniele.calistri@irst.emr.it Zampiga V.; valentina.zampiga@irst.emr.it Chvojka S.; stepan.chvojka@gennet.cz Cortesi L.; hbc@unimore.it Toss A.; angela.toss@unimore.it Diez O.; odiez@vhio.net Fostira F.; florentia_fostira@hotmail.com Konstantopoulou I.; reenakon@gmail.com Yannoukakos D.; yannouka@gmail.com Gensini F.; francesca.gensini@unifi.it Papi L.; laura.papi@unifi.it Houdayer C.; claude.houdayer@chu-rouen.fr Kubelka-Sabit K.; katerina.kubelka@acibademsistina.mk Marcinkute R.; ruta.marcinkute@gmail.com Mickys U.; ugnius.mickys@vpc.lt Moncoutier V.; virginie.moncoutier@curie.fr Stoppa-Lyonnet D.; Dominique.StoppaLyonnet@curie.fr Myszka A.; amyszka@univ.rzeszow.pl Nguyen-Dumont T.; tu.nguyen-dumont@monash.edu Southey M.C.; melissa.southey@monash.edu Norvilas R.; rimvydas.norvilas@santa.lt Janavicius R.; Ramunas.Janavicius@santa.lt Olah E.; e.olah@oncol.hu Pocza T.; timipocza@oncol.hu Peixoto A.; analuisamoura@ipoporto.min-saude.pt Santos C.; catarinasantos@ipoporto.min-saude.pt Plaseska-Karanfilska D.; dijana@manu.edu.mk Rudaitis V.; Vilius.Rudaitis@santa.lt Smichkoska S.; smicko@t.mk Teixeira M.; manuelteixeira@ipoporto.min-saude.pt Urioste M.; murioste@cnio.es Vlckova Z.; Vlckova@ghc.cz Radice P.; Paolo.Radice@istitutotumori.mi.it Ehrencrona H.; hans.ehrencrona@med.lu.seen
dc.description.grantOrganization: (FEDER) *European Regional Development Fund* Organization No: 501100008530 Country: European Union Organization: (NHMRC) *National Health and Medical Research Council* Organization No: 501100000925 Country: Australia Organization: *Suomen Radiologiyhdistys* Organization No: 501100008490 Country: Finland No: 16732 Organization: (AIRC) *Associazione Italiana per la Ricerca sul Cancro* Organization No: 501100005010 Country: Italy No: ECF-17-001 Organization: (NBCF) *National Breast Cancer Foundation* Organization No: 501100001026 Country: Australia No: IG2015 Organization: (AIRC) *Associazione Italiana per la Ricerca sul Cancro* Organization No: 501100005010 Country: Italy No: INT15/00070 Organization: (ISCIII) *Instituto de Salud Carlos III* Organization No: 501100004587 Country: Spain No: INT16/00154 Organization: (ISCIII) *Instituto de Salud Carlos III* Organization No: 501100004587 Country: Spain No: INT17/00133 Organization: (ISCIII) *Instituto de Salud Carlos III* Organization No: 501100004587 Country: Spain No: NV16-29959A Organization: (MZCR) *Ministerstvo Zdravotnictvi Ceske Republiky* Organization No: 501100003243 Country: Czechia No: OTKA K-112228 Organization: (NKFI) *Nemzeti Kutatasi Fejlesztesi es Innovacios Hivatal* Organization No: 501100011019 Country: Hungary No: P-MIP-20-25 Organization: *Lietuvos Mokslo Taryba* Organization No: 501100004504 Country: Lithuania No: PI16/00563 Organization: (FEDER) *Federacion Espanola de Enfermedades Raras* Organization No: 501100002924 Country: Spain No: PI19/00553 Organization: (FEDER) *Federacion Espanola de Enfermedades Raras* Organization No: 501100002924 Country: Spain No: SEN18/2015 Organization: *Lietuvos Mokslo Taryba* Organization No: 501100004504 Country: Lithuaniaen
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
item.openairetypeArticle-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
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