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Autor
Andrieu, Nadine 1 Azzollini, Jacopo 1 Balmaña, Judith 1 Barroso, Alicia 1 Benítez, Javier 1 Bertelsen, Birgitte 1 Blanco, Ana 1 Bonanni, Bernardo 1 Borg, Åke 1 Brunet, Joan 1 Calistri, Daniele 1 Calvello, Mariarosaria 1 Chvojka, Štěpán 1 Cortesi, Laura 1 Darder, Esther 1 Del Valle, Jesús 1 Diez, Orland 1 Ehrencrona, Hans 1 Eon-Marchais, Séverine 1 Figlioli, Gisella 1
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Biosciences Laboratory Istituto Scien... 1 Center for Genomic Medicine Copenhage... 1 Centre for Medical Genetics and Repro... 1 Department of Clinical Genetics Karol... 1 Department of Experimental and Clinic... 1 Department of Genetics Portuguese Onc... 1 Department of Genetics Portuguese Onc... 1 Department of Gynaecology Center of O... 1 Department of Histopathology and Cyto... 1 Department of Medical Genetics GHC Ge... 1 Department of Medical Oncology and He... 1 Department of Molecular Genetics Nati... 1 Department of Obstetrics and Gynecolo... 1 Department of Research Unit of Molecu... 1 Division of Cancer Prevention and Gen... 1 Division of Clinical Genetics Departm... 1 Division of Oncology and Pathology De... 1 Familial Cancer Clinical Unit Human C... 1 Fundación Pública Galega Medicina Xen... 1 Genetics Department F76000 and Norman... 1
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Autor
Andrieu, Nadine 1 Azzollini, Jacopo 1 Balmaña, Judith 1 Barroso, Alicia 1 Benítez, Javier 1 Bertelsen, Birgitte 1 Blanco, Ana 1 Bonanni, Bernardo 1 Borg, Åke 1 Brunet, Joan 1 Calistri, Daniele 1 Calvello, Mariarosaria 1 Chvojka, Štěpán 1 Cortesi, Laura 1 Darder, Esther 1 Del Valle, Jesús 1 Diez, Orland 1 Ehrencrona, Hans 1 Eon-Marchais, Séverine 1 Figlioli, Gisella 1
- Organizace
-
Pracoviště
Biosciences Laboratory Istituto Scien... 1 Center for Genomic Medicine Copenhage... 1 Centre for Medical Genetics and Repro... 1 Department of Clinical Genetics Karol... 1 Department of Experimental and Clinic... 1 Department of Genetics Portuguese Onc... 1 Department of Genetics Portuguese Onc... 1 Department of Gynaecology Center of O... 1 Department of Histopathology and Cyto... 1 Department of Medical Genetics GHC Ge... 1 Department of Medical Oncology and He... 1 Department of Molecular Genetics Nati... 1 Department of Obstetrics and Gynecolo... 1 Department of Research Unit of Molecu... 1 Division of Cancer Prevention and Gen... 1 Division of Clinical Genetics Departm... 1 Division of Oncology and Pathology De... 1 Familial Cancer Clinical Unit Human C... 1 Fundación Pública Galega Medicina Xen... 1 Genetics Department F76000 and Norman... 1
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Free Medical Journals od 2009
PubMed Central od 2009
Europe PubMed Central od 2009
ProQuest Central od 2009-01-01
Open Access Digital Library od 2009-01-01
Open Access Digital Library od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources od 2009
PubMed
31991861
DOI
10.3390/cancers12020292
Knihovny.cz E-zdroje
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.
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Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.