PMC5784535_01
The family pedigrees of index case (A) 0212 and (B) 0421. Arrow represents index case; black symbol represents colorectal cancer or tumors associated with LS. AP indicates adenomatous polyp; Bl, bladder cancer; Br, brain cancer; RCo, right colon cancer; Rec, rectal cancer; St, stomach cancer. Numbers next to each diagnosis denote age at onset;   represents carrier mutation.
10.1177_1179547617753943-fig1.jpg
PMC5784535_02_10.1177_1179547617753943-fig1.jpg
fig1-1179547617753943
The patient's family history included only colon cancer in several first-degree relatives (Figure 1B); therefore, this family showed a tumor spectrum typical of LS I form.
PMC5784535_02
The family pedigrees of index case (A) 0212 and (B) 0421. Arrow represents index case; black symbol represents colorectal cancer or tumors associated with LS. AP indicates adenomatous polyp; Bl, bladder cancer; Br, brain cancer; RCo, right colon cancer; Rec, rectal cancer; St, stomach cancer. Numbers next to each diagnosis denote age at onset;   represents carrier mutation.
10.1177_1179547617753943-fig1.jpg
PMC5784535_02_10.1177_1179547617753943-fig1.jpg
fig1-1179547617753943
The patient's family history included only colon cancer in several first-degree relatives (Figure 1B); therefore, this family showed a tumor spectrum typical of LS I form.
Sequence analysis of exon 1 of the MSH2 gene revealed the mutation, namely, c.192dupC, in both index cases, 0212 and 0421. The mutated base is indicated by the arrow.
10.1177_1179547617753943-fig2.jpg
PMC5784535_02_10.1177_1179547617753943-fig2.jpg
fig2-1179547617753943
For both patients (0212 and 0421), DNA analysis found a variation in an exon 1 sequence that was a duplication of one nucleotide (c.192dupC) in MSH2, as detected by dHPLC and DNA sequencing analysis (Figure 2).