Table 3: Constitutional mutations in early onset colorectal cancer.

CasesGeneMutation

Lynch syndrome5MLH1 (3)c.2246T>C; p.Leu749Pro
c.1489dupC; p.Arg497ProfsX6
c.1989G>T; p.Glu663Asp
MSH2 (1)c.881_882delTT; p.Phe294X
EPCAM (1)Del ex 8-9 and seq in 3′ to +3 kb

Familial Adenomatous Polyposis1APC c.2771_2772insT; p. Arg924SerfsX16