4 research outputs found
Additional file 1: Table S1. of Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition
qRT-PCR and ASE results from 50 cases investigated. (DOCX 37 kb
Additional file 2: Table S2. of Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition
Mean and median ASE values of cases and controls after combining both MUTYH assays. (DOCX 18 kb
Results of integrative germline analyses performed in this study.
<p>VUS included in-frame deletions, sequence variants with uncertain effect on splicing and missense variants. Evidence of a pathogenic, possibly pathogenic defect in 28 probands with VUS derived from previous studies (see <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0081194#pone.0081194.s007" target="_blank">Table S5</a>). In one additional case (360#2916) availability of RNA allowed ASE analysis that helped to characterize a VUS shared also by another proband (986#3487, see Results). ASE analysis was conducted in 22 individuals, including 12 with ascertained germline defect that are not shown in the figure. <i>APC</i> and MUTYH screening was conducted in a subset of patients negative for MMR defects (see Methods). Inclusion of ASE analysis and screening for <i>APC</i> and MUTYH sequence variants in the integrative analyses increased the number of probands with germline alterations detected.</p
ASE values observed.
<p>ASE values between the 2 dashed lines correspond to less than twofold imbalances in allelic ratios (see Methods). </p