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Fig. 1 | Genome Medicine

Fig. 1

From: Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes

Fig. 1

Comparison of editing frequencies between BRCA1/2 variants and silent control SNVs for functional classification. A Experimental process used in this analysis for evaluation of the functional impact of BRCA1/2 and POLE SNVs. B Examples of the gRNA and the two corresponding oligonucleotides designed for the p.Pro1812Ala variant editing, pathogenic mutation of the BRCA1 gene. On this schematic representation, silent control and patient mutations of interest are colored in red, whereas silent reference variants are in green. NGS sequencing results and functional scores for this mutation are associated. C Same thing with the p.Tyr179Cys variant, benign variant of the BRCA1 gene. D Insertion and deletion frequencies determined following the NGS sequencing of BRCA1/2 variants of interest, compared with those for the corresponding silent control. These means include the 8 nt surrounding the PAM sequence. E Analysis of NGS sequencing coverage with the following formula: Mutation of interest (Mutation+Reference control)/Silent control (Mutation+Reference control). The results for benign BRCA1/2 variants are compared with those obtained for pathogenic mutations (Mann-Whitney tests, p = 0.8016)

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