2026-07-21T20:18:25Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/125072024-11-29T22:06:56Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud 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 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 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 author Urioste, Miguel author Benitez, Javier funder Italian Association for Cancer Research funder Fondazione Umberto Veronesi funder Ministero della Salute (Italia) funder Region Stockholm ALF funder Ministry of Health (República Checa) funder Unión Europea. Comisión Europea funder Instituto de Salud Carlos III funder Centro de Investigación Biomédica en Red - CIBERER (Enfermedades Raras) funder French National Cancer Institute funder National Health and Medical Research Council (Australia) funder Hungarian Research Network funder Lietuvos Mokslo Taryba (Lituania) funder Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) 2021-04-05T12:02:00Z 2021-04-05T12:02:00Z 2020-01-26 Cancers (Basel). 2020 ;12(2):292. 10.3390/cancers12020292 2072-6694 Cancers 31991861 http://hdl.handle.net/20.500.12105/12507 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. eng RISK MUTATIONS BRCA1 ANEMIA GENE The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases. journal article 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 URL https://repisalud.isciii.es/bitstreams/4e701b79-74aa-4ae4-8dca-abadfe733bad/download File MD5 eaa70bb3e5ac84d1ef04d3b1f40c1c14 1232216 application/pdf TheSpectrumofFANCMProtein_2020.pdf URL https://repisalud.isciii.es/bitstreams/123dcfdd-38f9-43f3-bc65-071675aae3ca/download File MD5 41e8971e061589e2d2e4e6254ad0c781 150645 application/pdf cancers-12-00292-s001.pdf URL https://repisalud.isciii.es/bitstreams/ae3d4135-fd35-4bab-b26d-6419376c4965/download File MD5 4bdc6555ddffbe1ac4aa05e799033662 47058 text/plain TheSpectrumofFANCMProtein_2020.pdf.txt URL https://repisalud.isciii.es/bitstreams/37c98bf0-d39d-4d1e-af1e-4594264d90d3/download File MD5 3d3336e1e73fa61533c969e83a8ebb99 8070 text/plain cancers-12-00292-s001.pdf.txt