Slip slidin' away: a duodecennial review of targeted genes in mismatch repair deficient colorectal cancer.
Roughly 15% of colorectal tumors are characterized by microsatellite instability (MSI), a deficiency caused by defective DNA mismatch repair, which leads to profuse insertions and deletions in microsatellites. Downstream target genes of this defective repair are those prone to exhibit these insertion/deletion mutations in their coding regions and potentially having functional consequences in, and providing a growth advantage for, the cancer cell. This review presents the last 12 years of research on these MSI target genes, systematizing the mutation details of the more than 160 genes identified to date, and includes their mutation frequencies in colorectal and other MSI (e.g., gastric and endometrial) tumors. Functional aspects of certain targets and the target gene concept itself are also discussed, as is the comparative wealth of potential target genes assessed by scanning the coding sequences of the human genome for mononucleotide repeats--yet to be investigated.
Røyrvik
Ellen C
EC
Department of Cancer Prevention, Institute for Cancer Research, Rikshospitalet-Radiumhospitalet Medical Center, Center for Cancer Biomedicine, University of Oslo, Norway.
Ahlquist
Terje
T
Rognes
Torbjørn
T
Lothe
Ragnhild A
RA
D020137:Base Pair Mismatch / Q000235:genetics*; D043171:Chromosomal Instability; D015179:Colorectal Neoplasms / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D020869:Gene Expression Profiling; D006801:Humans