Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12188/7218
Title: The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
Authors: 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
Issue Date: 2020
Publisher: MDPI AG
Journal: Cancers
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.
URI: http://hdl.handle.net/20.500.12188/7218
ISSN: 2072-6694
DOI: 10.3390/cancers12020292
Appears in Collections:Faculty of Medicine: Journal Articles

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