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

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 th...

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Autores principales: 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, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073216/
https://www.ncbi.nlm.nih.gov/pubmed/31991861
http://dx.doi.org/10.3390/cancers12020292
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author 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
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
author_facet 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
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
author_sort Figlioli, Gisella
collection PubMed
description 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.
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spelling pubmed-70732162020-03-19 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 Consortium, ENIGMA 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 Cancers (Basel) Article 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. MDPI 2020-01-26 /pmc/articles/PMC7073216/ /pubmed/31991861 http://dx.doi.org/10.3390/cancers12020292 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
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
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
title The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title_full The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title_fullStr The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title_full_unstemmed The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title_short The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
title_sort spectrum of fancm protein truncating variants in european breast cancer cases
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073216/
https://www.ncbi.nlm.nih.gov/pubmed/31991861
http://dx.doi.org/10.3390/cancers12020292
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