Table 2.
Spectrum of germline mutations detected.
| Gene (N=381) | No. of Patient with DM | % of Patient with DM (95% CI) |
|---|---|---|
|
| ||
| Any Deleterious Mutation | 35 | 9 (6.48–12.54) |
|
| ||
| Lynch Syndrome Genes | 22 | 6 (3.65–8.61) |
| MLH1 | 3 | 1 (0.16–2.28) |
| MSH2 | 5 | 1 (0.43–3.04) |
| EPCAM-MSH21 | 2 | 1 (0.06–1.88) |
| MSH6 | 6 | 2 (0.58–3.40) |
| PMS2 | 6 | 2 (0.58–3.40) |
|
| ||
| Non-Lynch Syndrome Genes | 13 | 3 (1.83–5.76) |
| PTEN | 1 | 0 (0.01–1.45) |
| BRCA1 | 1 | 0 (0.01–1.45) |
| BRCA2 | 1 | 0 (0.01–1.45) |
| APC | 1 | 0 (0.01–1.45) |
| ATM | 1 | 0 (0.01–1.45) |
| BARD1 | 1 | 0 (0.01–1.45) |
| BRIP1 | 1 | 0 (0.01–1.45) |
| NBN | 1 | 0 (0.01–1.45) |
| RAD51C | 1 | 0 (0.01–1.45) |
| CHEK2 | 4 | 1 (0.29–2.67) |
1
Two patients with EPCAM-MSH2 mutations had mutations in both MSH2 and EPCAM; these were counted as a single mutation.