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

Figlioli, Gisella and Kvist, Anders and Tham, Emma and Soukupova, Jana and Kleiblova, Petra and Muranen, Taru A and Andrieu, Nadine and Azzollini, Jacopo and Balmaña, Judith and Barroso, Alicia and Benítez, Javier and Bertelsen, Birgitte and Blanco, Ana and Bonanni, Bernardo and Borg, Åke and Brunet, Joan and Calistri, Daniele and Calvello, Mariarosaria and Chvojka, Stepan and Cortesi, Laura and Darder, Esther and Del Valle, Jesús and Diez, Orland and Eon-Marchais, Séverine and Fostira, Florentia and Gensini, Francesca and Houdayer, Claude and Janatova, Marketa and Kiiski, Johanna I and Konstantopoulou, Irene and Kubelka-Sabit, Katerina and Lázaro, Conxi and Lesueur, Fabienne and Manoukian, Siranoush and Marcinkute, Ruta and Mickys, Ugnius and Moncoutier, Virginie and Myszka, Aleksander and Nguyen-Dumont, Tu and Nielsen, Finn Cilius and Norvilas, Rimvydas and Olah, Edith and Osorio, Ana and Papi, Laura and Peissel, Bernard and Peixoto, Ana and Plaseska-Karanfilska, Dijana and Pócza, Timea and Rossing, Maria and Rudaitis, Vilius and Santamariña, Marta and Santos, Catarina and Smichkoska, Snezhana and Southey, Melissa C and Stoppa-Lyonnet, Dominique and Teixeira, Manuel and Törngren, Therese and Toss, Angela and Urioste, Miguel and Vega, Ana and Vlckova, Zdenka and Yannoukakos, Drakoulis and Zampiga, Valentina and Kleibl, Zdenek and Radice, Paolo and Nevanlinna, Heli and Ehrencrona, Hans and Janavicius, Ramunas and Peterlongo, Paolo (2020) The Spectrum of Protein Truncating Variants in European Breast Cancer Cases. Cancers, 12 (2). ISSN 2072-6694

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Germline protein truncating variants (PTVs) in the 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 PTVs in Europe have never been investigated. In the present study, we collected the data of 114 European female breast cancer cases with PTVs ascertained in 20 centers from 13 European countries. We identified 27 different 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 PTVs, 15 have not been previously reported. We provide here the initial spectrum of PTVs in European breast cancer cases.

Item Type: Article
Impact Factor Value: 6.639
Subjects: Medical and Health Sciences > Basic medicine
Medical and Health Sciences > Clinical medicine
Divisions: Faculty of Medical Science
Depositing User: Katerina Kubelka-Sabit
Date Deposited: 13 Jan 2023 11:07
Last Modified: 13 Jan 2023 11:07

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