Functional characterization of DNA variants from exons 17 and 18 of the BRCA2 gene
| Autor: | Fraile-Bethencourt, Eugenia, Díez-Gómez, Beatriz, Velásquez-Zapata, Valeria, Acedo, Alberto, Sanz, David J., Hernández-Moro, Cristina, Marcos García, G., Infante, Mar, Durán, Mercedes, Velasco, Eladio |
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| Přispěvatelé: | Junta de Castilla y León, Universidad de Valladolid, Banco Santander, Instituto de Salud Carlos III |
| Rok vydání: | 2016 |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| Popis: | Resumen del póster presentado a la European Human Genetics Conference, celebrada en Barcelona (España) del 21 al 24 de mayo de 2016. A large fraction of pathogenic BRCA2 variants impairs mRNA splicing in hereditary breast/ovarian cancer. Missense, synonymous or in frame-deletion/insertion variants are usually classified as variants of uncertain significance. The best method to identify splicing aberrations is based on the study of patient RNA, but that is often difficult to obtain. Minigene-based technology is an alternative approach to test candidate splicing variants without the need of patient samples. To study this process we constructed a large minigene in the pSAD plasmid with exons 14 to 20 (MGBR2_ex14-20) to keep the genomic context. Here, we focus on exons 17 y 18 because of the atypical GC donor in exon 17. The intronic GT dinucleotide is the most conserved element of the donor splice signal. However, in a small fraction of the donor sites ( Projects FIS PI13/01749 (ISCIII),BIO/VA34/15 (Junta Castilla-León); EF-B is supported by a predoctoral fellowship (University of Valladolid/Banco Santander). |
| Databáze: | OpenAIRE |
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