Family ID | Gene | DNA change | Effect | Immunohistochemistry |
---|---|---|---|---|
HNPCC, hereditary non-polyposis colorectal cancer. | ||||
Total families observed 34; tested 24; positive 6 (25%). | ||||
2 | hMSH2 | 4 bp del exon 7 | Truncated protein | No MSH2 protein expression |
10 | hMSH2 | AT intron 6 | Truncated protein | No MSH2 protein expression |
39 | hMSH2 | del A exon 16 | Truncated protein | Normal expression |
41 | hMSH6 | del A exon 19 | Truncated protein | No MSH6 protein expression |
1 | hMLH1 | ins T exon 19 | Protein elongation | No MLH1 protein expression |
20 | hMLH1 | ins T exon 19 | Protein elongation | No MLH1 protein expression |