Table 1.
Spectrum of somatic APC mutations according to DNA microsatellite status
Tumour type* | Mutation | Codon | Effect | No. of mutations |
MSI-H | G to T | 1295 | Stop | 1 |
HNPCC | C to T | 1451 | Stop | 1 |
HNPCC | Ins AG | 1466 | Stop | 1 |
HNPCC | Del AG | 1466 | Stop | 2 |
HNPCC | Del A | 1455/6 | Stop | 1 |
HNPCC | Ins A | 1455/6 | Stop | 1 |
MSI-L | Del AT | 1377 | Stop | 1 |
MSI-L | Del T | 1453 | Stop | 1 |
MSI-L | G to T | 1322 | Stop | 1 |
MSI-L | Del 3927–31 | 1309 | Stop | 1 |
MSI-L | C to G | 1347 | Stop | 1 |
MSI-L | Ins TA | 1438 | Stop | 1 |
MSI-L | Ins A | 1304 | Stop | 1 |
MSI-L | Del A | 1473 | Stop | 1 |
MSI-L | 4 bp /ins | ? | Stop | 1 |
MSI-L | 2 bp del | ? | Stop | 2 |
MSI-L | 1 bp del | ? | Stop | 2 |
MSI-L | Ins 1 bp | ? | Stop | 1 |
MSI-L | A to T | 1286 | Missense | 1 |
MSI-L | C to T | 1315 | Missense | 1 |
MSI-L | G to T | 1437 | Missense | 1 |
MSS | C to A | 1315 | Stop | 1 |
MSS | G to T | 1354 | Stop | 1 |
MSS | Del C | 1493 | Stop | 1 |
MSS | Del AAAGA | 1309 | Stop | 1 |
MSS | Del CT | ? | Stop | 1 |
MSS | Del 1 bp | ? | Stop | 1 |
*Tumour type refers to the category of tumour in which the mutation was found and not to the individual tumour.
Del, deletion; HNPCC, hereditary non-polyposis colorectal cancer; Ins, insertion; MSI-H, high degree of microsatellite instability; MSI-L, low degree of microsatellite instability; MSS, microsatellite stable.