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

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  • معلومة اضافية
    • Contributors:
      Institut Català de la Salut; [Figlioli G] Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan, Italy. [Kvist A] Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden. [Tham E] Department of Clinical Genetics, Karolinska University Hospital and Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden. [Soukupova J] Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic. [Kleiblova P] Institute of Biology and Medical Genetics, General University Hospital and First Faculty of Medicine, Charles University, Prague, Czech Republic. [Muranen TA] Department of Obstetrics and Gynecology, Helsinki University Hospital and University of Helsinki, HUS, Helsinki, Finland. [Balmaña J] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Diez O] Hereditary Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain; Vall d'Hebron Barcelona Hospital Campus; Italian Association for Cancer Research; Fondazione Umberto Veronesi; Ministero della Salute (Italia); Region Stockholm (ALF); Ministry of Health (República Checa); Unión Europea. Comisión Europea; Instituto de Salud Carlos III; Centro de Investigación Biomédica en Red - CIBERER (Enfermedades Raras); French National Institute of Cancer (INCa grant); National Health and Medical Research Council (Australia); Hungarian Research Grants; Lietuvos Mokslo Taryba (Lituania); Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF); Associazione Italiana per la Ricerca sul Cancro (AIRC); Ministry of Health, Italy; Ministry of Health, Czech Republic; European Commission; Instituto de Salud Carlos III - ISCIII; Spanish Network on Rare Diseases (CIBERER); National Health and Medical Research Council of Australia; Research Council of Lithuania (LMTLT); European Regional Development Fund (ERDF/FEDER); HUS Gynecology and Obstetrics; Department of Obstetrics and Gynecology; Helsinki University Hospital Area; University of Helsinki; INDIVIDRUG - Individualized Drug Therapy; Clinicum
    • بيانات النشر:
      MDPI AG, 2020.
    • الموضوع:
      2020
    • نبذة مختصرة :
      Germline protein truncating variants (PTVs) in the FANCM gene have been associated with a 2&ndash
      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.
    • File Description:
      application/pdf; text
    • ISSN:
      2072-6694
    • Rights:
      OPEN
    • الرقم المعرف:
      edsair.doi.dedup.....50814983c51d7b6f93b23792330c61fa