We aim to assess exon 17 splicing variants involvement in the genetic susceptibility to HBOC, by a bioinformatic analysis and mRNA functional assays through a hybrid minigene strategy. 1) To select the candidate variants of the functional analysis based on a bioinformatic prediction, using online databases as BIC and algorithms as the presented on the Human Splicing Finder Database (HSF).
2) To construct and validate a wild type minigene that contains the 14-20 exons of BRCA2 and can be used as a vector of the functional analysis.
3) To generate each of the selected BRCA2 variants within the minigene. 4) To perform a functional analysis of the variants (driven in eukaryote cells), in order to evaluate its effect on the mRNA splicing.
5) To characterize the new-generated splicing patterns.
6) To contribute to the understanding of the HBOC genetic predisposition spectrum.
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