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https://repository.monashhealth.org/monashhealthjspui/handle/1/29416| Title: | The spectrum of fancm protein truncating variants in European breast cancer cases. | Authors: | Torngren T.;Teixeira M.;Toss A.;Urioste M.;Vega A.;Vlckova Z.;Yannoukakos D.;Zampiga V.;Kleibl Z.;Radice P.;Nevanlinna H.;Ehrencrona H.;Janavicius R.;Peterlongo P.;Figlioli G.;Kvist A.;Tham E.;Soukupova J.;Kleiblova P.;Muranen T.A.;Andrieu N.;Azzollini J.;Balmana J.;Barroso A.;Benitez J.;Bertelsen B.;Blanco A.;Bonanni B.;Borg A.;Brunet J.;Calistri D.;Calvello M.;Chvojka S.;Cortesi L.;Darder E.;Del Valle J.;Diez O.;Eon-Marchais S.;Fostira F.;Gensini F.;Houdayer C.;Janatova M.;Kiiski J.I.;Konstantopoulou I.;Kubelka-Sabit K.;Lazaro C.;Lesueur F.;Manoukian S.;Marcinkute R.;Mickys U.;Moncoutier V.;Myszka A.;Nguyen-Dumont T.;Nielsen F.C.;Norvilas R.;Olah E.;Osorio A.;Papi L.;Peissel B.;Peixoto A.;Plaseska-Karanfilska D.;Pocza T.;Rossing M.;Rudaitis V.;Santamarina M.;Santos C.;Smichkoska S.;Southey M.C.;Stoppa-Lyonnet D. | Monash Health Department(s): | Monash University - School of Clinical Sciences at Monash Health | 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, Sweden | Issue Date: | 14-Feb-2020 | Copyright year: | 2020 | Publisher: | MDPI AG (Postfach, Basel CH-4005, Switzerland. E-mail: indexing@mdpi.com) | Place of publication: | Switzerland | Publication information: | Cancers. 12 (2) (no pagination), 2020. Article Number: 292. Date of Publication: February 2020. | Journal: | Cancers | Abstract: | Germline 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. | DOI: | http://monash.idm.oclc.org/login?url=http://dx.doi.org/10.3390/cancers12020292 | ISSN: | 2072-6694 (electronic) | URI: | https://repository.monashhealth.org/monashhealthjspui/handle/1/29416 | Type: | Article | Subjects: | Greece adult aged article controlled study Czech Republic Denmark *estrogen receptor negative breast cancer/et [Etiology] *estrogen receptor positive breast cancer/et [Etiology] female Finland France *gene gene frequency gene sequence genetic association *genetic variability human Hungary Lithuania major clinical study middle aged Poland Portugal Spain Sweden tumor suppressor gene very elderly *FANCM gene *protein truncating variant Greece aged Czech Republic Denmark estrogen receptor negative breast cancer estrogen receptor positive breast cancer Finland France gene gene frequency gene sequence genetic association genetic variability Hungary Lithuania Poland Portugal Spain Sweden tumor suppressor gene very elderly FANCM gene protein truncating variant France *gene gene frequency gene sequence genetic association *genetic variability Greece human Hungary Lithuania aged major clinical study middle aged Poland Portugal Spain Sweden tumor suppressor gene Article adult very elderly controlled study Czech Republic Denmark *estrogen receptor negative breast cancer / *etiology *estrogen receptor positive breast cancer / *etiology female Finland |
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