6 research outputs found
MOESM6 of Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer
Additional file 6: Table S6. Chromosomal rearrangements of cancer function-related genes detected in the proband through single nucleotide polymorphism
MOESM1 of Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer
Additional file 1: Table S1. Variants of tumor genes detected by Sanger sequencing in the proband
Additional file 2: Table S2. of Aberrant DNA methylation profiles of inherited and sporadic colorectal cancer
Details of FISH probes used for CIN analysis. (DOCX 13.5 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