التفاصيل البيبلوغرافية
| العنوان: |
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases |
| المؤلفون: |
Brunet, Joan, Darder, Esther, Valle Domínguez, Jesús del, Lázaro García, Conxi, ENIGMA Consortium, GENESIS Study Collaborators, SWE-BRCA Group |
| المصدر: |
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
| بيانات النشر: |
MDPI |
| سنة النشر: |
2020 |
| المجموعة: |
Dipòsit Digital de la Universitat de Barcelona |
| مصطلحات موضوعية: |
Càncer de mama, Factors de risc en les malalties, Breast cancer, Risk factors in diseases |
| الوصف: |
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. |
| نوع الوثيقة: |
article in journal/newspaper |
| وصف الملف: |
10 p.; application/pdf |
| اللغة: |
English |
| Relation: |
Reproducció del document publicat a: https://doi.org/10.3390/cancers12020292; Cancers, 2020, vol. 12, num. 2; https://doi.org/10.3390/cancers12020292; info:eu-repo/grantAgreement/EC/H2020/634935/EU//BRIDGES; http://hdl.handle.net/2445/173269 |
| الاتاحة: |
http://hdl.handle.net/2445/173269 |
| Rights: |
cc by (c) Figlioli et al., 2020 ; http://creativecommons.org/licenses/by/3.0/es/ ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: |
edsbas.72C46C75 |
| قاعدة البيانات: |
BASE |