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

by 1, 2, 3, 4, 5, 6, 7,8, 9, 10,11, 12, 12,13,14, 15, 16,17,18, 19, 2, 20, 21, 19, 22, 23, 20, 20, 10,24, 25, 7,8, 26, 7, 27, 28, 4, 6, 26, 29, 20, 7,8, 9, 30, 31, 32, 33, 34, 35,36, 15, 30,37, 38, 12,13, 27, 9, 39, 40, 38, 15, 41, 16,17,18, 39, 42, 35,36, 32, 39,43, 2, 23, 44, 16,17,18, 45, 26, 21, 4, 46, 6, 33,47, 30,37 and 1,*
Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy
Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-22381, Sweden
Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm 17176, Sweden
Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague 12853, Czech Republic
Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague 12800, Czech Republic
Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki 00029, Finland
Inserm, U900, Institut Curie, PSL University, Paris F-75005, France
Mines ParisTech, Fontainebleau F-77300, France
Department of Medical Oncology and Hematology, Unit of Medical Genetics Fondazione, IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
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
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
Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark
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
Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan 20141, Italy
Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDIBGI-IGTP, CIBERONC, Barcelona 08908, Spain
Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola 47014, Italy
Centre for Medical Genetics and Reproductive Medicine, Gennet, Prague 17000, Czech Republic
University Modena Hospital, Modena 41124, Italy
Àrea of Molecular and Clinical Genetics, University Hospital Vall d´Hebron, Barcelona 08035, Spain
QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia
InRASTES, Molecular Diagnostics Laboratory, National Centre for Scientific Research “Demokritos”, Athens 15310, Greece
Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence 50134, Italy
Genetics Department, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France
Department of Histopathology and Cytology, Clinical Hospital Acibadem Sistina, Skopje 1000, Republic of North Macedonia
Hereditary Cancer Center, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania
National Center of Pathology, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania
Service de Génétique, Institut Curie, Inserm, U830, Paris Descartes University, Paris F-75005, France
Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund SE-22100, Sweden
Institute of Medical Sciences, University of Rzeszow, Rzeszow 35-310, Poland
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
Department of experimental, preventive and clinical medicine, State Research Institute Centre for Innovative Medicine, Vilnius 08410, Lithuania
Department of Molecular Genetics, National Institute of Oncology, Budapest 1122, Hungary
Department of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto 4200-072, Portugal
Research Centre for Genetic Engineering and Biotechnology ‘Georgi D. Efremov’, Macedonian Academy of Sciences and Arts, Skopje 1000, Republic of North Macedonia
Department of Gynaecology, Center of Obsterics and Gynaecology, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania
Medical Faculty, University Clinic of Radiotherapy and Oncology, Ss. Cyril and Methodius University in Skopje, Skopje 1000, Republic of North Macedonia
Biomedical Sciences Institute, University of Porto, Porto 4050-313, Portugal
Familial Cancer Clinical Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain
Department of Medical Genetics, GHC Genetics, Prague 11000, Czech Republic
Department of Research, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
Office for Medical Services, Region Skåne, Department of Clinical Genetics and Pathology, Laboratory Medicine, Lund SE-22100, Sweden
Author to whom correspondence should be addressed.
Cancers 2020, 12(2), 292;
Received: 13 December 2019 / Revised: 15 January 2020 / Accepted: 21 January 2020 / Published: 26 January 2020
(This article belongs to the Special Issue Molecular Genetics of Breast and Ovary Cancer)
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. View Full-Text
Keywords: breast cancer predisposition; breast cancer risk factors; FANCM truncating variants; mutation spectrum; PTVs breast cancer predisposition; breast cancer risk factors; FANCM truncating variants; mutation spectrum; PTVs
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MDPI and ACS Style

Figlioli, G.; Kvist, A.; Tham, E.; Soukupova, J.; Kleiblova, P.; Muranen, T.A; Andrieu, N.; Azzollini, J.; Balmaña, J.; Barroso, A.; Benítez, J.; Bertelsen, B.; Blanco, A.; Bonanni, B.; Borg, Å.; Brunet, J.; Calistri, D.; Calvello, M.; Chvojka, S.; Cortesi, L.; Darder, E.; Del Valle, J.; Diez, O.; Consortium, E.; Eon-Marchais, S.; Fostira, F.; GENESIS Study Collaborators; Gensini, F.; Houdayer, C.; Janatova, M.; Kiiski, J.I; Konstantopoulou, I.; Kubelka-Sabit, K.; Lázaro, C.; Lesueur, F.; Manoukian, S.; Marcinkute, R.; Mickys, U.; Moncoutier, V.; SWE-BRCA Group; Myszka, A.; Nguyen-Dumont, T.; Nielsen, F.C.; Norvilas, R.; Olah, E.; Osorio, A.; Papi, L.; Peissel, B.; Peixoto, A.; Plaseska-Karanfilska, D.; Pócza, T.; Rossing, M.; Rudaitis, V.; Santamariña, M.; Santos, C.; Smichkoska, S.; Southey, M.C; Stoppa-Lyonnet, D.; Teixeira, M.; Törngren, T.; Toss, A.; Urioste, M.; Vega, A.; Vlckova, Z.; Yannoukakos, D.; Zampiga, V.; Kleibl, Z.; Radice, P.; Nevanlinna, H.; Ehrencrona, H.; Janavicius, R.; Peterlongo, P. The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. Cancers 2020, 12, 292.

AMA Style

Figlioli G, Kvist A, Tham E, Soukupova J, Kleiblova P, Muranen TA, Andrieu N, Azzollini J, Balmaña J, Barroso A, Benítez J, Bertelsen B, Blanco A, Bonanni B, Borg Å, Brunet J, Calistri D, Calvello M, Chvojka S, Cortesi L, Darder E, Del Valle J, Diez O, Consortium E, Eon-Marchais S, Fostira F, GENESIS Study Collaborators, Gensini F, Houdayer C, Janatova M, Kiiski JI, Konstantopoulou I, Kubelka-Sabit K, Lázaro C, Lesueur F, Manoukian S, Marcinkute R, Mickys U, Moncoutier V, SWE-BRCA Group, Myszka A, Nguyen-Dumont T, Nielsen FC, Norvilas R, Olah E, Osorio A, Papi L, Peissel B, Peixoto A, Plaseska-Karanfilska D, Pócza T, Rossing M, Rudaitis V, Santamariña M, Santos C, Smichkoska S, Southey MC, Stoppa-Lyonnet D, Teixeira M, Törngren T, Toss A, Urioste M, Vega A, Vlckova Z, Yannoukakos D, Zampiga V, Kleibl Z, Radice P, Nevanlinna H, Ehrencrona H, Janavicius R, Peterlongo P. The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. Cancers. 2020; 12(2):292.

Chicago/Turabian Style

Figlioli, Gisella; Kvist, Anders; Tham, Emma; Soukupova, Jana; Kleiblova, Petra; Muranen, Taru A; Andrieu, Nadine; Azzollini, Jacopo; Balmaña, Judith; Barroso, Alicia; Benítez, Javier; Bertelsen, Birgitte; Blanco, Ana; Bonanni, Bernardo; Borg, Åke; Brunet, Joan; Calistri, Daniele; Calvello, Mariarosaria; Chvojka, Stepan; Cortesi, Laura; Darder, Esther; Del Valle, Jesús; Diez, Orland; Consortium, ENIGMA; Eon-Marchais, Séverine; Fostira, Florentia; GENESIS Study Collaborators; Gensini, Francesca; Houdayer, Claude; Janatova, Marketa; Kiiski, Johanna I; Konstantopoulou, Irene; Kubelka-Sabit, Katerina; Lázaro, Conxi; Lesueur, Fabienne; Manoukian, Siranoush; Marcinkute, Ruta; Mickys, Ugnius; Moncoutier, Virginie; SWE-BRCA Group; Myszka, Aleksander; Nguyen-Dumont, Tu; Nielsen, Finn C.; Norvilas, Rimvydas; Olah, Edith; Osorio, Ana; Papi, Laura; Peissel, Bernard; Peixoto, Ana; Plaseska-Karanfilska, Dijana; Pócza, Timea; Rossing, Maria; Rudaitis, Vilius; Santamariña, Marta; Santos, Catarina; Smichkoska, Snezhana; Southey, Melissa C; Stoppa-Lyonnet, Dominique; Teixeira, Manuel; Törngren, Therese; Toss, Angela; Urioste, Miguel; Vega, Ana; Vlckova, Zdenka; Yannoukakos, Drakoulis; Zampiga, Valentina; Kleibl, Zdenek; Radice, Paolo; Nevanlinna, Heli; Ehrencrona, Hans; Janavicius, Ramunas; Peterlongo, Paolo. 2020. "The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases" Cancers 12, no. 2: 292.

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