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Constitutional mutations in early onset colorectal cancer.
| Cases | Gene | Mutation | |
|---|---|---|---|
| Lynch syndrome | 5 | MLH1 (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 Polyposis | 1 | APC | c.2771_2772insT; p. Arg924SerfsX16 |
