دورية أكاديمية
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
| العنوان: | The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. |
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| المؤلفون: | Figlioli G; Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy., Kvist A; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-22381, Sweden., Tham E; Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm 17176, Sweden., Soukupova J; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague 12853, Czech Republic., Kleiblova P; Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague 12800, Czech Republic., Muranen TA; Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki 00029, Finland., Andrieu N; Inserm, U900, Institut Curie, PSL University, Paris F-75005, France.; Mines ParisTech, Fontainebleau F-77300, France., Azzollini J; Department of Medical Oncology and Hematology, Unit of Medical GeneticsFondazione, IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy., Balmaña J; Hereditary Cancer Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona 08035, Spain.; Department of Medical Oncology, University Hospital Vall d´Hebron, Barcelona 08035, Spain., Barroso A; Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain., Benítez J; Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain.; Spanish Network on Rare Diseases (CIBERER), Madrid 28029, Spain.; Genotyping Unit, CEGEN, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain., Bertelsen B; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark., Blanco A; Fundación Pública Galega Medicina Xenómica-SERGAS, Santiago de Compostela 15706, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela 15706, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain., Bonanni B; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan 20141, Italy., Borg Å; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-22381, Sweden., Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDIBGI-IGTP, CIBERONC, Barcelona 08908, Spain., Calistri D; Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola 47014, Italy., Calvello M; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan 20141, Italy., Chvojka S; Centre for Medical Genetics and Reproductive Medicine, Gennet, Prague 17000, Czech Republic., Cortesi L; University Modena Hospital, Modena 41124, Italy., Darder E; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDIBGI-IGTP, CIBERONC, Barcelona 08908, Spain., Del Valle J; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDIBGI-IGTP, CIBERONC, Barcelona 08908, Spain., Diez O; Hereditary Cancer Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona 08035, Spain.; Àrea of Molecular and Clinical Genetics, University Hospital Vall d´Hebron, Barcelona 08035, Spain., Eon-Marchais S; Inserm, U900, Institut Curie, PSL University, Paris F-75005, France.; Mines ParisTech, Fontainebleau F-77300, France., Fostira F; InRASTES, Molecular Diagnostics Laboratory, National Centre for Scientific Research 'Demokritos', Athens 15310, Greece., Gensini F; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence 50134, Italy., Houdayer C; Genetics Department, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France., Janatova M; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague 12853, Czech Republic., Kiiski JI; Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki 00029, Finland., Konstantopoulou I; InRASTES, Molecular Diagnostics Laboratory, National Centre for Scientific Research 'Demokritos', Athens 15310, Greece., Kubelka-Sabit K; Department of Histopathology and Cytology, Clinical Hospital Acibadem Sistina, Skopje 1000, Republic of North Macedonia., Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDIBGI-IGTP, CIBERONC, Barcelona 08908, Spain., Lesueur F; Inserm, U900, Institut Curie, PSL University, Paris F-75005, France.; Mines ParisTech, Fontainebleau F-77300, France., Manoukian S; Department of Medical Oncology and Hematology, Unit of Medical GeneticsFondazione, IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy., Marcinkute R; Hereditary Cancer Center, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania., Mickys U; National Center of Pathology, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania., Moncoutier V; Service de Génétique, Institut Curie, Inserm, U830, Paris Descartes University, Paris F-75005, France., Myszka A; Institute of Medical Sciences, University of Rzeszow, Rzeszow 35-310, Poland., Nguyen-Dumont T; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton 3168, Australia.; Department of Clinical Pathology, The University of Melbourne, Melbourne 3010, Australia., Nielsen FC; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark., Norvilas R; Hereditary Cancer Center, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania.; Department of experimental, preventive and clinical medicine, State Research Institute Centre for Innovative Medicine, Vilnius 08410, Lithuania., Olah E; Department of Molecular Genetics, National Institute of Oncology, Budapest 1122, Hungary., Osorio A; Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain.; Spanish Network on Rare Diseases (CIBERER), Madrid 28029, Spain., Papi L; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence 50134, Italy., Peissel B; Department of Medical Oncology and Hematology, Unit of Medical GeneticsFondazione, IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy., Peixoto A; Department of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto 4200-072, Portugal., Plaseska-Karanfilska D; Research Centre for Genetic Engineering and Biotechnology 'Georgi D. Efremov', Macedonian Academy of Sciences and Arts, Skopje 1000, Republic of North Macedonia., Pócza T; Department of Molecular Genetics, National Institute of Oncology, Budapest 1122, Hungary., Rossing M; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark., Rudaitis V; Department of Gynaecology, Center of Obsterics and Gynaecology, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania., Santamariña M; Fundación Pública Galega Medicina Xenómica-SERGAS, Santiago de Compostela 15706, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela 15706, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain., Santos C; Department of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto 4200-072, Portugal., Smichkoska S; Medical Faculty, University Clinic of Radiotherapy and Oncology, Ss. Cyril and Methodius University in Skopje, Skopje 1000, Republic of North Macedonia., Southey MC; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton 3168, Australia.; Department of Clinical Pathology, The University of Melbourne, Melbourne 3010, Australia., Stoppa-Lyonnet D; Service de Génétique, Institut Curie, Inserm, U830, Paris Descartes University, Paris F-75005, France., Teixeira M; Department of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto 4200-072, Portugal.; Biomedical Sciences Institute, University of Porto, Porto 4050-313, Portugal., Törngren T; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-22381, Sweden., Toss A; University Modena Hospital, Modena 41124, Italy., Urioste M; Familial Cancer Clinical Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain., Vega A; Fundación Pública Galega Medicina Xenómica-SERGAS, Santiago de Compostela 15706, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela 15706, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain., Vlckova Z; Department of Medical Genetics, GHC Genetics, Prague 11000, Czech Republic., Yannoukakos D; InRASTES, Molecular Diagnostics Laboratory, National Centre for Scientific Research 'Demokritos', Athens 15310, Greece., Zampiga V; Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola 47014, Italy., Kleibl Z; Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague 12853, Czech Republic., Radice P; Department of Research, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy., Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki 00029, Finland., Ehrencrona H; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund SE-22100, Sweden.; Office for Medical Services, Region Skåne, Department of Clinical Genetics and Pathology, Laboratory Medicine, Lund SE-22100, Sweden., Janavicius R; Hereditary Cancer Center, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania.; Department of experimental, preventive and clinical medicine, State Research Institute Centre for Innovative Medicine, Vilnius 08410, Lithuania., Peterlongo P; Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy. |
| مؤلفون مشاركون: | ENIGMA Consortium; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia, GENESIS Study Collaborators; Inserm, U900, Institut Curie, PSL University, Paris F-75005, France., SWE-BRCA Group; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund SE-22100, Sweden. |
| المصدر: | Cancers [Cancers (Basel)] 2020 Jan 26; Vol. 12 (2). Date of Electronic Publication: 2020 Jan 26. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel, Switzerland : MDPI |
| مستخلص: | 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. Competing Interests: The authors declare no conflict of interest. |
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| معلومات مُعتمدة: | 16732 International Associazione Italiana per la Ricerca sul Cancro |
| فهرسة مساهمة: | Keywords: FANCM truncating variants; PTVs; breast cancer predisposition; breast cancer risk factors; mutation spectrum |
| تواريخ الأحداث: | Date Created: 20200130 Latest Revision: 20200928 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC7073216 |
| DOI: | 10.3390/cancers12020292 |
| PMID: | 31991861 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 2072-6694 |
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| DOI: | 10.3390/cancers12020292 |