Figure 2 | Scientific Reports

Figure 2

From: Contribution of New Adenomatous Polyposis Predisposition Genes in an Unexplained Attenuated Spanish Cohort by Multigene Panel Testing

Figure 2

Identification of POLE and NTHL1 double heterozygote. (a) POLE and NTHL1 protein domains and ___location of truncating variants detected in patient 83. (b) Pedigree chart; POLE+ = POLE variant carrier; POLE− = POLE wild type genotype; NTHL1+ = NTHL1variant carrier; NTHL1− = NTHL1wild type genotype; LC = lung cancer; A = adenoma. (c) POLE wild type expression in blood and tissue cDNA samples. (d) NTHL1 wild type allele expression in blood and tissue cDNA samples. COLON pool sample has been used as a reference sample in both NTHL1 and POLE assays. Significant ρ-values are indicated with *(ρ < 0.05) and **(ρ < 0.01). Each sample was analyzed in triplicates. AC = adenocarcinoma; AD = adenoma; CRC = colorectal cancer.

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