Figure 1
From: The role of MYH and microsatellite instability in the development of sporadic colorectal cancer
(A) Pedigree showing the family of the proband (case 9033, marked with black arrow) and their respective disease and mutation status. WT, wild type; left half shaded black, polyps; right half shaded black, cancer. (B) Schematic of promoter region of MLH1 from the caecal tumour from case 9033 demonstrating biallelic methylation. Each allele is distinguished by the presence of an SNP (coloured square). Circles represent CpG islands, filled circles represent methylation, the blue square represents guanine and the red square represents adenine. (C) Sequence traces obtained from the caecal tumour of case 9033 demonstrate the presence of biallelic MYH mutations. The patient was compound heterozygote for the Y165C and G382D mutations.
