Colorectal Cancer and Defects in the Mismatch Repair and Base Excision Repair Systems

ABBREVIATIONS ACF aberrant crypt foci APC adenomatous polyposis coli ATM ataxia-telangiectasia mutated BER base excision repair BLM Bloom syndrome gene bp base pair BRCA1 and-2 breast and ovarian cancer genes 1 and 2 CDH1 cadherin 1 CHK2 checkpoint kinase 2 CIMP CpG island methylated phenotype CIN chromosomal instability COX-2 cyclo-oxygenase-2 CRC colorectal cancer CSGE conformation-sensitive gel electrophoresis CtIP CtBP-interacting protein, retinoblastoma-binding protein 8 DAPK death-associated protein kinase DCC deleted in colorectal cancer DGGE denaturing gradient gel electrophoresis dHPLC denaturing high-performance liquid chromatography DNA deoxyribonucleic acid DSB double-strand break in DNA EB1 microtubule end binding EXO1 exonuclease 1 FANC Fanconi anaemia genes FAP familial adenomatous polyposis GI gastrointestinal GSK3β glycogen synthase kinase 3β GSTM1 and-T1 glutathione-S transferases Mu 1 and Theta 1 IDL insertion/deletion loops HNPCC hereditary non-polyposis colorectal cancer IGFII insulin-like growth factor II kb kilobase K-RAS gene coding for Harvey sarcoma virus homologue, Kirsten type LKB1 serine/threonine protein kinase 11 LOH loss of heterozygosity LOI loss of imprinting MDE mutation detection enhancement MGMT O6-methylguanine methyltransferase Min multiple intestinal neoplasia MLH1 and-3 human mutL (E. coli) homologues 1 and 3 MMR mismatch repair 6 MRE11 meiotic recombination protein 11 (S. cerevisiae) homologue MSH2,-3,-6 human mutS (E. coli) homologues 2, 3, and 6 MSI microsatellite instability, microsatellite-instable MSI-H high microsatellite instability MSI-L low microsatellite instability MSS microsatellite stable MTH1 human MutT (E. coli) homologue 1 MYH human MutY (E. coli) homologue NAT1 and-2 N-acetyl transferases 1 and 2 NBS1 mutated in Nijmegen breakage syndrome NER nucleotide excision repair NF neurofibromatosis OBR leptin receptor OGG1 8-oxoguanine DNA glycosylase O6-Meg O6-methylguanine 8-oxoG oxidized guanine lesion p short arm of the chromosome p16 cyclin-dependent kinase inhibitor-2A PAGE polyacrylamide gel electrophoresis PCNA proliferating cell nuclear antigen PCR polymerase chain reaction PLA2G2A phospholipase A2, group 2A PMS1 and-2 postmeiotic segregation increased 1 and 2 PPAR peroxisome proliferative activated receptor PRL-3 protein-tyrosine phosphatase 3 q long arm of the chromosome RB retinoblastoma gene RECQL2 and-4 RECQ protein-like 2 and 4, DNA helicases RNA ribonucleic acid ROS reactive oxygen species SMAD2 and-4 human homologues of Drosophila melanogaster Mad genes 2 and 4 SRC human homologue of Rous sarcoma virus gene SSCP single-strand conformational polymorphism analysis STK15 serine/threonine kinase 15 TGF-β transforming growth factor-β TGF-βRII transforming growth factor-β receptor type II TP53 tumour protein 53 TTDA mutated in trichothiodystrophy UV ultraviolet XPA-G xeroderma pigmentosum syndrome genes 7 (2003). EXO1 variants occur commonly in normal population: evidence against a role …