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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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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. |
format | Online Article Text |
id | pubmed-7073216 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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