Year: 2020
Type: Article
Title: The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases
Author: Figlioli, Gisella
Author: Kvist, Anders
Author: Tham, Emma
Author: Soukupova, Jana
Author: Kleiblova, Petra
Author: Muranen, Taru A
Author: Andrieu, Nadine
Author: Azzollini, Jacopo
Author: Balmaña, Judith
Author: Barroso, Alicia
Author: Benítez, Javier
Author: Bertelsen, Birgitte
Author: Blanco, Ana
Author: Bonanni, Bernardo
Author: Borg, Åke
Author: Brunet, Joan
Author: Calistri, Daniele
Author: Calvello, Mariarosaria
Author: Chvojka, Stepan
Author: Cortesi, Laura
Author: Darder, Esther
Author: Del Valle, Jesús
Author: Diez, Orland
Author: Eon-Marchais, Séverine
Author: Fostira, Florentia
Author: Gensini, Francesca
Author: Houdayer, Claude
Author: Janatova, Marketa
Author: Kiiski, Johanna I
Author: Konstantopoulou, Irene
Author: Kubelka-Sabit, Katerina
Author: Lázaro, Conxi
Author: Lesueur, Fabienne
Author: Manoukian, Siranoush
Author: Marcinkute, Ruta
Author: Mickys, Ugnius
Author: Moncoutier, Virginie
Author: Myszka, Aleksander
Author: Nguyen-Dumont, Tu
Author: Nielsen, Finn Cilius
Author: Norvilas, Rimvydas
Author: Olah, Edith
Author: Osorio, Ana
Author: Papi, Laura
Author: Peissel, Bernard
Author: Peixoto, Ana
Author: Plaseska-Karanfilska, Dijana
Author: Pócza, Timea
Author: Rossing, Maria
Author: Rudaitis, Vilius
Author: Santamariña, Marta
Author: Santos, Catarina
Author: Smichkoska, Snezhana
Author: Southey, Melissa C
Author: Stoppa-Lyonnet, Dominique
Author: Teixeira, Manuel
Author: Törngren, Therese
Author: Toss, Angela
Author: Urioste, Miguel
Author: Vega, Ana
Author: Vlckova, Zdenka
Author: Yannoukakos, Drakoulis
Author: Zampiga, Valentina
Author: Kleibl, Zdenek
Author: Radice, Paolo
Author: Nevanlinna, Heli
Author: Ehrencrona, Hans
Author: Janavicius, Ramunas
Author: Peterlongo, Paolo
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.
Publisher: MDPI AG
Relation: Cancers
Identifier: oai:repository.ukim.mk:20.500.12188/8930
Identifier: 2072-6694
Identifier: http://hdl.handle.net/20.500.12188/8930Identifier: 10.3390/cancers12020292
Identifier: https://www.mdpi.com/2072-6694/12/2/292/pdfIdentifier: 12
Identifier: 2
Identifier: 292
