Table 3.
Comparison of Site of CRC in Previously Published Biallelic MMR Mutation Carriers Compared to Monoallelic PMS2 mutation Carriers
| Site of CRC | Senter et al Biallelics [16] | Durno et al Biallelics [23] | Monoallelic CRC in 20s | Monoallelic CRC in 30s | Monoallelic CRC in 40s | Monoallelic CRC in 50s | Monoallelic CRC in 60s | Monoallelic CRC in 70-80s |
|---|---|---|---|---|---|---|---|---|
| Cecum | 0 | 4 | 0 | 4 | 7 | 6 | 4 | 1 |
| Ascending | 0 | 7 | 0 | 9 | 11 | 10 | 4 | 1 |
| Hepatic Flexure | 0 | 1 | 0 | 1 | 1 | 1 | 1 | 0 |
| Transverse | 0 | 2 | 2 | 1 | 7 | 2 | 0 | 0 |
| Splenic Flexure | 0 | 6 | 0 | 0 | 1 | 0 | 0 | 0 |
| Descending | 1 | 5 | 1 | 0 | 3 | 3 | 0 | 0 |
| Sigmoid | 1 | 6 | 3 | 0 | 4 | 1 | 7 | 1 |
| Rectosigmoid Junction | 0 | 1 | 1 | 0 | 0 | 1 | 0 | 2 |
| Rectum, NOS | 2 | 8 | 2 | 4 | 2 | 1 | 0 | 0 |
| % of distal colon* | 100% | 65% | 78% | 21% | 29% | 24% | 44% | 60% |
*
includes splenic flexure, descending, sigmoid, rectosigmoid junction, rectum