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

Gisella Figlioli; Anders Kvist; Emma Tham; Jana Soukupova; Petra Kleiblova; Taru A. Muranen; Nadine Andrieu; Jacopo Azzollini; Judith Balmaña; Alicia Barroso; Javier Benítez; Birgitte Bertelsen; Ana Blanco; Bernardo Bonanni; Åke Borg; Joan Brunet; Daniele Calistri; Mariarosaria Calvello; Stepan Chvojka; Laura Cortesi; Esther Darder; Jesús Del Valle; Orland Diez; Séverine Eon-Marchais; Florentia Fostira; Francesca Gensini; Claude Houdayer; Marketa Janatova; Johanna I. Kiiski; Irene Konstantopoulou; Katerina Kubelka-Sabit; Conxi Lázaro; Fabienne Lesueur; Siranoush Manoukian; Ruta Marcinkute; Ugnius Mickys; Virginie Moncoutier; Aleksander Myszka; Tu Nguyen-Dumont; Finn Cilius Nielsen; Rimvydas Norvilas; Edith Olah; Ana Osorio; Laura Papi; Bernard Peissel; Ana Peixoto; Dijana Plaseska-Karanfilska; Timea Pócza; Maria Rossing; Vilius Rudaitis; Marta Santamariña; Catarina Santos; Snezhana Smichkoska; Melissa C. Southey; Dominique Stoppa-Lyonnet; Manuel Teixeira; Therese Törngren; Angela Toss; Miguel Urioste; Ana Vega; Zdenka Vlckova; Drakoulis Yannoukakos; Valentina Zampiga; Zdenek Kleibl; Paolo Radice; Heli Nevanlinna; Hans Ehrencrona; Ramunas Janavicius; Paolo Peterlongo

doi:10.3390/cancers12020292

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

Gisella Figlioli, Anders Kvist, Emma Tham, Jana Soukupova, Petra Kleiblova, Taru A. Muranen, Nadine Andrieu, Jacopo Azzollini, Judith Balmaña, Alicia Barroso, Javier Benítez, Birgitte Bertelsen, Ana Blanco, Bernardo Bonanni, Åke Borg, Joan Brunet, Daniele Calistri, Mariarosaria Calvello, Stepan Chvojka, Laura CortesiEsther Darder, Jesús Del Valle, Orland Diez, Séverine Eon-Marchais, Florentia Fostira, Francesca Gensini, Claude Houdayer, Marketa Janatova, Johanna I. Kiiski, Irene Konstantopoulou, Katerina Kubelka-Sabit, Conxi Lázaro, Fabienne Lesueur, Siranoush Manoukian, Ruta Marcinkute, Ugnius Mickys, Virginie Moncoutier, Aleksander Myszka, Tu Nguyen-Dumont, Finn Cilius Nielsen, Rimvydas Norvilas, Edith Olah, Ana Osorio, Laura Papi, Bernard Peissel, Ana Peixoto, Dijana Plaseska-Karanfilska, Timea Pócza, Maria Rossing, Vilius Rudaitis, Marta Santamariña, Catarina Santos, Snezhana Smichkoska, Melissa C. Southey, Dominique Stoppa-Lyonnet, Manuel Teixeira, Therese Törngren, Angela Toss, Miguel Urioste, Ana Vega, Zdenka Vlckova, Drakoulis Yannoukakos, Valentina Zampiga, Zdenek Kleibl, Paolo Radice, Heli Nevanlinna, Hans Ehrencrona, Ramunas Janavicius, Paolo Peterlongo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Journal	Cancers
Volume	12
Issue number	2
DOIs	https://doi.org/10.3390/cancers12020292
Publication status	Published - Jan 1 2020

Keywords

*breast cancer predisposition
*breast cancer risk factors
*FANCM truncating variants
*mutation spectrum
*PTVs

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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., ... Peterlongo, P. (2020). The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. Cancers, 12(2). https://doi.org/10.3390/cancers12020292

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. / 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; Eon-Marchais, Séverine; Fostira, Florentia; 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; Myszka, Aleksander; Nguyen-Dumont, Tu; Nielsen, Finn Cilius; 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.

In: Cancers, Vol. 12, No. 2, 01.01.2020.

Research output: Contribution to journal › Article › peer-review

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, Eon-Marchais, S, Fostira, F, 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, 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 2020, 'The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.', Cancers, vol. 12, no. 2. https://doi.org/10.3390/cancers12020292

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 ; Eon-Marchais, Séverine ; Fostira, Florentia ; 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 ; Myszka, Aleksander ; Nguyen-Dumont, Tu ; Nielsen, Finn Cilius ; 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. / The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. In: Cancers. 2020 ; Vol. 12, No. 2.

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title = "The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.",

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.",

keywords = "*breast cancer predisposition, *breast cancer risk factors, *FANCM truncating variants, *mutation spectrum, *PTVs",

author = "Gisella Figlioli and Anders Kvist and Emma Tham and Jana Soukupova and Petra Kleiblova and Muranen, {Taru A.} and Nadine Andrieu and Jacopo Azzollini and Judith Balma{\~n}a and Alicia Barroso and Javier Ben{\'i}tez and Birgitte Bertelsen and Ana Blanco and Bernardo Bonanni and {\AA}ke Borg and Joan Brunet and Daniele Calistri and Mariarosaria Calvello and Stepan Chvojka and Laura Cortesi and Esther Darder and {Del Valle}, Jes{\'u}s and Orland Diez and S{\'e}verine Eon-Marchais and Florentia Fostira and Francesca Gensini and Claude Houdayer and Marketa Janatova and Kiiski, {Johanna I.} and Irene Konstantopoulou and Katerina Kubelka-Sabit and Conxi L{\'a}zaro and Fabienne Lesueur and Siranoush Manoukian and Ruta Marcinkute and Ugnius Mickys and Virginie Moncoutier and Aleksander Myszka and Tu Nguyen-Dumont and Nielsen, {Finn Cilius} and Rimvydas Norvilas and Edith Olah and Ana Osorio and Laura Papi and Bernard Peissel and Ana Peixoto and Dijana Plaseska-Karanfilska and Timea P{\'o}cza and Maria Rossing and Vilius Rudaitis and Marta Santamari{\~n}a and Catarina Santos and Snezhana Smichkoska and Southey, {Melissa C.} and Dominique Stoppa-Lyonnet and Manuel Teixeira and Therese T{\"o}rngren and Angela Toss and Miguel Urioste and Ana Vega and Zdenka Vlckova and Drakoulis Yannoukakos and Valentina Zampiga and Zdenek Kleibl and Paolo Radice and Heli Nevanlinna and Hans Ehrencrona and Ramunas Janavicius and Paolo Peterlongo",

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AU - Figlioli, Gisella

AU - Kvist, Anders

AU - Tham, Emma

AU - Soukupova, Jana

AU - Kleiblova, Petra

AU - Muranen, Taru A.

AU - Andrieu, Nadine

AU - Azzollini, Jacopo

AU - Balmaña, Judith

AU - Barroso, Alicia

AU - Benítez, Javier

AU - Bertelsen, Birgitte

AU - Blanco, Ana

AU - Bonanni, Bernardo

AU - Borg, Åke

AU - Brunet, Joan

AU - Calistri, Daniele

AU - Calvello, Mariarosaria

AU - Chvojka, Stepan

AU - Cortesi, Laura

AU - Darder, Esther

AU - Del Valle, Jesús

AU - Diez, Orland

AU - Eon-Marchais, Séverine

AU - Fostira, Florentia

AU - Gensini, Francesca

AU - Houdayer, Claude

AU - Janatova, Marketa

AU - Kiiski, Johanna I.

AU - Konstantopoulou, Irene

AU - Kubelka-Sabit, Katerina

AU - Lázaro, Conxi

AU - Lesueur, Fabienne

AU - Manoukian, Siranoush

AU - Marcinkute, Ruta

AU - Mickys, Ugnius

AU - Moncoutier, Virginie

AU - Myszka, Aleksander

AU - Nguyen-Dumont, Tu

AU - Nielsen, Finn Cilius

AU - Norvilas, Rimvydas

AU - Olah, Edith

AU - Osorio, Ana

AU - Papi, Laura

AU - Peissel, Bernard

AU - Peixoto, Ana

AU - Plaseska-Karanfilska, Dijana

AU - Pócza, Timea

AU - Rossing, Maria

AU - Rudaitis, Vilius

AU - Santamariña, Marta

AU - Santos, Catarina

AU - Smichkoska, Snezhana

AU - Southey, Melissa C.

AU - Stoppa-Lyonnet, Dominique

AU - Teixeira, Manuel

AU - Törngren, Therese

AU - Toss, Angela

AU - Urioste, Miguel

AU - Vega, Ana

AU - Vlckova, Zdenka

AU - Yannoukakos, Drakoulis

AU - Zampiga, Valentina

AU - Kleibl, Zdenek

AU - Radice, Paolo

AU - Nevanlinna, Heli

AU - Ehrencrona, Hans

AU - Janavicius, Ramunas

AU - Peterlongo, Paolo

PY - 2020/1/1

Y1 - 2020/1/1

N2 - 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.

AB - 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.

KW - breast cancer predisposition

KW - breast cancer risk factors

KW - FANCM truncating variants

KW - mutation spectrum

KW - PTVs

U2 - 10.3390/cancers12020292

DO - 10.3390/cancers12020292

M3 - Article

VL - 12

JO - Cancers

JF - Cancers

SN - 2072-6694

IS - 2

ER -