Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

Figure 3 Pedigree and segregation analysis in family members of index patients for MLH1 and MSH6 mutations. Index patients are indicated by arrows. Both index patients II:5 (sample 49-4A) and II:6 (sample 49-5A) carried MLH1 frame shift mutation (c.1163_1164insT, p.Arg389Profs*6) and II:5 also carried MSH6 missense mutation (c.2300C>G, p.Thr767Ser). Two brothers II:1 (colon cancer at age of 43) and II:3 (no cancer) carried both mutations. A sister (II:2, no cancer) carried neither the MLH1 nor the MSH6 mutation. A third brother (II:4) carried the MSH6 mutation, but not the MLH1 mutation. And the mother of index patients carried MLH1 mutation, but not the MSH6 mutation. Both did not develop cancer.