Two novel germline mutations of MLH1 and investigation of their pathobiology in hereditary non-polyposis colorectal cancer families in China

Figure 1 Missense mutations. (A): MLH1 mutation in H2 family at 649 codon 217 exon 8: CGC→TGC. The arrow shows the site of the mutation; (B): Wild-type sequence. The arrow shows the corresponding site.

Figure 2 Missense mutation. A: MLH1 mutation in H31 family at 1742 odon 581 exon 16: CCG→CTG. The arrow shows the site of the mutation; B: Wild-type sequence. The arrow shows the corresponding site.

Figure 3 Four sites of MSI in H2 family. CA represents the tumor tissue, N represents the control tissue, the arrow-heads show new waves, and the arrows show wild ones.

Figure 4 MLH1 protein in H2 was negative in the tumor glands (right), and positive in the mucous glands next to the tumor tissue (EnVison, × 200).

Figure 5 MLH1 protein in H31 was negative in the tumor glands, and positive in the stroma cells (EnVison, × 400).