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Volume 12
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10.3390/cancers12020292
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Open AccessArticle

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

by
Gisella Figlioli
1,
Anders Kvist
2,
Emma Tham
3,
Jana Soukupova
4,
Petra Kleiblova
5,
Taru A Muranen
6,
Nadine Andrieu
7,8,
Jacopo Azzollini
9,
Judith Balmaña
10,11,
Alicia Barroso
12,
Javier Benítez
12,13,14,
Birgitte Bertelsen
15,
Ana Blanco
16,17,18,
Bernardo Bonanni
19,
Åke Borg
2,
Joan Brunet
20,
Daniele Calistri
21,
Mariarosaria Calvello
19,
Stepan Chvojka
22,
Laura Cortesi
23,
Esther Darder
20,
Jesús Del Valle
20,
Orland Diez
10,24,
ENIGMA Consortium
25,
Séverine Eon-Marchais
7,8,
Florentia Fostira
26,
GENESIS Study Collaborators
7,
Francesca Gensini
27,
Claude Houdayer
28,
Marketa Janatova
4,
Johanna I Kiiski
6,
Irene Konstantopoulou
26,
Katerina Kubelka-Sabit
29,
Conxi Lázaro
20,
Fabienne Lesueur
7,8,
Siranoush Manoukian
9,
Ruta Marcinkute
30,
Ugnius Mickys
31,
Virginie Moncoutier
32,
SWE-BRCA Group
33,
Aleksander Myszka
34,
Tu Nguyen-Dumont
35,36,
Finn Cilius Nielsen
15,
Rimvydas Norvilas
30,37,
Edith Olah
38,
Ana Osorio
12,13,
Laura Papi
27,
Bernard Peissel
9,
Ana Peixoto
39,
Dijana Plaseska-Karanfilska
40,
Timea Pócza
38,
Maria Rossing
15,
Vilius Rudaitis
41,
Marta Santamariña
16,17,18,
Catarina Santos
39,
Snezhana Smichkoska
42,
Melissa C Southey
35,36,
Dominique Stoppa-Lyonnet
32,
Manuel Teixeira
39,43,
Therese Törngren
2,
Angela Toss
23,
Miguel Urioste
44,
Ana Vega
16,17,18,
Zdenka Vlckova
45,
Drakoulis Yannoukakos
26,
Valentina Zampiga
21,
Zdenek Kleibl
4,
Paolo Radice
46,
Heli Nevanlinna
6,
Hans Ehrencrona
33,47,
Ramunas Janavicius
30,37 and
Paolo Peterlongo
1,*
1
Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy
2
Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund SE-22381, Sweden
3
Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm 17176, Sweden
4
Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague 12853, Czech Republic
5
Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague 12800, Czech Republic
6
Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki 00029, Finland
7
Inserm, U900, Institut Curie, PSL University, Paris F-75005, France
8
Mines ParisTech, Fontainebleau F-77300, France
9
Department of Medical Oncology and Hematology, Unit of Medical Genetics Fondazione, IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
10
Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona 08035, Spain
11
Department of Medical Oncology, University Hospital Vall d´Hebron, Barcelona 08035, Spain
12
Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain
13
Spanish Network on Rare Diseases (CIBERER), Madrid 28029, Spain
14
Genotyping Unit, CEGEN, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain
15
Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark
16
Fundación Pública Galega Medicina Xenómica-SERGAS, Santiago de Compostela 15706, Spain
17
Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela 15706, Spain
18
Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid 28029, Spain
19
Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan 20141, Italy
20
Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDIBGI-IGTP, CIBERONC, Barcelona 08908, Spain
21
Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola 47014, Italy
22
Centre for Medical Genetics and Reproductive Medicine, Gennet, Prague 17000, Czech Republic
23
University Modena Hospital, Modena 41124, Italy
24
Àrea of Molecular and Clinical Genetics, University Hospital Vall d´Hebron, Barcelona 08035, Spain
25
QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia
26
InRASTES, Molecular Diagnostics Laboratory, National Centre for Scientific Research “Demokritos”, Athens 15310, Greece
27
Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence 50134, Italy
28
Genetics Department, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France
29
Department of Histopathology and Cytology, Clinical Hospital Acibadem Sistina, Skopje 1000, Republic of North Macedonia
30
Hereditary Cancer Center, Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania
31
National Center of Pathology, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania
32
Service de Génétique, Institut Curie, Inserm, U830, Paris Descartes University, Paris F-75005, France
33
Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund SE-22100, Sweden
34
Institute of Medical Sciences, University of Rzeszow, Rzeszow 35-310, Poland
35
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton 3168, Australia
36
Department of Clinical Pathology, The University of Melbourne, Melbourne 3010, Australia
37
Department of experimental, preventive and clinical medicine, State Research Institute Centre for Innovative Medicine, Vilnius 08410, Lithuania
38
Department of Molecular Genetics, National Institute of Oncology, Budapest 1122, Hungary
39
Department of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Porto 4200-072, Portugal
40
Research Centre for Genetic Engineering and Biotechnology ‘Georgi D. Efremov’, Macedonian Academy of Sciences and Arts, Skopje 1000, Republic of North Macedonia
41
Department of Gynaecology, Center of Obsterics and Gynaecology, Vilnius University Hospital Santaros Klinikos, Vilnius 08410, Lithuania
42
Medical Faculty, University Clinic of Radiotherapy and Oncology, Ss. Cyril and Methodius University in Skopje, Skopje 1000, Republic of North Macedonia
43
Biomedical Sciences Institute, University of Porto, Porto 4050-313, Portugal
44
Familial Cancer Clinical Unit, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid 28029, Spain
45
Department of Medical Genetics, GHC Genetics, Prague 11000, Czech Republic
46
Department of Research, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
47
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; https://doi.org/10.3390/cancers12020292
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)
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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. 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. https://doi.org/10.3390/cancers12020292

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. https://doi.org/10.3390/cancers12020292

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. https://doi.org/10.3390/cancers12020292

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