Table 2.
Some Targeted Genes in MMR-Deficient (or MSI) Colorectal Cancers and Their Reported Mutation Frequency
| Gene | Chromosome | Microsatellite tract | MSI colorectal cancer mutation frequency (%) | Normal function |
|---|---|---|---|---|
| TGFBR2 | 3p22 | A10 | 90 | TGF-β signaling |
| ACVR2 | 2q22-23 | A8 and A8 | 86 | Activin signaling |
| IGFIIR | 6q26-27 | G8 | 10 | Insulin-like growth factor and TGF-β signaling |
| BAX | 19q13.3-q13.4 | G8 | 50 | Apoptosis |
| hMSH3 | 5q11-q12 | A8 | 50 | DNA MMR |
| hMSH6 | 2p16 | C8 | 33 | DNA MMR |
| E2F-4 | 16q21-q22 | (CAG)13 | 65 | Cell cycle control |
| PTEN | 10q23.3 | A6 and A6 | 19–34 | Growth regulation |
| MBD4 (MED1) | 3q21-q22 | A10 | 40 | DNA repair and binding to methylated DNA |
| TCF4 | 10q25.3 | A9 | 39 | Growth regulation |
| CHK1 | 11q22-q23 | A9 | 10 | G2 cell cycle checkpoint |
| STK11 (LKB1) | 19p13.3 | C6 | <2 | Signal transduction |
| BLM | 15q26.1 | A9 | <18 | Chromosome stability/DNA repair; helicase |
| Caspase-5 (ICErel-III) | 11q22.2-22.3 | A10 | 62 | Apoptosis |
| CDX2 | 13q12.3 | C6 and G6 | <2 | Homeobox protein |
| TBP | 6q27 | (CAG)19 and (CAG)16 | 83 | TATA binding protein |
| RIZ | 1p36 | A8 and A9 | 26 | Interacts with RB |
| hRAD50 | 5q31 | A9 and A8 | 31 | DNA repair |
| SEC63 | 6q21 | A10 | 49 | ER chaperone protein |
| AIM2 | 1q22 | A10 | 48 | Interferon-inducible protein |