The biochemical basis of microsatellite instability and abnormal immunohistochemistry and clinical behavior in Lynch Syndrome: From bench to bedside

Familial Cancer

Volumn 7, Issue 1, 2008, Pages 41-52

  Boland, C Richard ^a   Koi, Minoru ^a   Chang, Dong K ^b   Carethers, John M ^c  

^a BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

Colorectal cancer; DNA mismatch repair; Familial cancer; HNPCC; Lynch syndrome; Microsatellite instability; MLH1; MSH2; MSH6; PMS2

Indexed keywords

MISMATCH REPAIR PROTEIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PROTEIN MUTS; ADENOSINE TRIPHOSPHATASE; DNA BINDING PROTEIN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

CONFERENCE PAPER; FAMILIAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; MALIGNANT TRANSFORMATION; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; COLORECTAL TUMOR; GENETICS; GENOTYPE; MUTATION; PATHOLOGY; PHENOTYPE; REVIEW; TUMOR CELL LINE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOSINE TRIPHOSPHATASES; CELL LINE, TUMOR; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MISMATCH REPAIR; DNA REPAIR ENZYMES; DNA-BINDING PROTEINS; GENETIC RESEARCH; GENOTYPE; HUMANS; MICROSATELLITE INSTABILITY; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PHENOTYPE;

EID: 46449117172     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-007-9145-9     Document Type: Conference Paper

References (44)

1. HT Lynch A de la Chapelle 2003 Hereditary colorectal cancer N Engl J Med 348 10 919 932
2. S Acharya T Wilson S Gradia 1996 hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6 Proc Natl Acad Sci USA 93 24 13629 13634
3. S Gradia D Subramanian T Wilson 1999 hMSH2-hMSH6 forms a hydrolysis-independent sliding clamp on mismatched DNA Mol Cell 3 2 255 261
4. FA Kadyrov L Dzantiev N Constantin P Modrich 2006 Endonucleolytic function of MutLalpha in human mismatch repair Cell 126 2 297 308
5. CD Heinen C Schmutte R Fishel 2002 DNA repair and tumorigenesis: lessons from hereditary cancer syndromes Cancer Biol Ther 1 5 477 485
6. JM Carethers MT Hawn DP Chauhan 1996 Competency in mismatch repair prohibits clonal expansion of cancer cells treated with N-methyl-N'-nitro-N- nitrosoguanidine J Clin Invest 98 1 199 206
7. CR Boland SN Thibodeau SR Hamilton 1998 A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer Cancer Res 58 22 5248 5257
8. A Duval R Hamelin 2002 Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability Cancer Res 62 9 2447 2454
9. N Rampino H Yamamoto Y Ionov 1997 Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype Science 275 5302 967 969
10. DK Chang D Metzgar C Wills CR Boland 2001 Microsatellites in the eukaryotic DNA mismatch repair genes as modulators of evolutionary mutation rate Genome Res 11 7 1145 1146
11. M Perucho 1996 Microsatellite instability: the mutator that mutates the other mutator Nat Med 2 6 630 631
12. M Koi A Umar DP Chauhan 1994 Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-methyl-N′-nitro-N- nitrosoguanidine tolerance in colon tumor cells with homozygous hMLH1 mutation Cancer Res 54 16 4308 4312
13. A Umar M Koi JI Risinger 1997 Correction of hypermutability, N-methyl-N′-nitro-N-nitrosoguanidine resistance, and defective DNA mismatch repair by introducing chromosome 2 into human tumor cells with mutations in MSH2 and MSH6 Cancer Res 57 18 3949 3955
14. Y Watanabe A Haugen-Strano A Umar 2000 Complementation of an hMSH2 defect in human colorectal carcinoma cells by human chromosome 2 transfer Mol Carcinog 29 1 37 49
15. CN Arnold A Goel CR Boland 2003 Role of hMLH1 promoter hypermethylation in drug resistance to 5-fluorouracil in colorectal cancer cell lines Int J Cancer 106 1 66 73
16. DK Chang L Ricciardiello A Goel CL Chang CR Boland 2000 Steady-state regulation of the human DNA mismatch repair system J Biol Chem 275 24 18424 18431
17. RD Kolodner JD Tytell JL Schmeits 1999 Germ-line msh6 mutations in colorectal cancer families Cancer Res 59 20 5068 5074
18. M Miyaki M Konishi K Tanaka 1997 Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer Nat Genet 17 3 271 272
19. R Kariola H Hampel WL Frankel TE Raevaara A de la Chapelle M Nystrom-Lahti 2004 MSH6 missense mutations are often associated with no or low cancer susceptibility Br J Cancer 91 7 1287 1292
20. YM Hendriks A Wagner H Morreau 2004 Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance Gastroenterology 127 1 17 25
21. Y Akiyama N Tsubouchi Y Yuasa 1997 Frequent somatic mutations of hMSH3 with reference to microsatellite instability in hereditary nonpolyposis colorectal cancers Biochem Biophys Res Commun 236 2 248 252
22. AE de Jong M van Puijenbroek Y Hendriks 2004 Microsatellite instability, immunohistochemistry, and additional PMS2 staining in suspected hereditary nonpolyposis colorectal cancer Clin Cancer Res 10 3 972 980
23. K Truninger M Menigatti J Luz 2005 Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer Gastroenterology 128 5 1160 1171
24. YM Hendriks S Jagmohan-Changur HM van der Klift 2006 Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome) Gastroenterology 130 2 312 322
25. T Hienonen P Laiho R Salovaara 2003 Little evidence for involvement of MLH3 in colorectal cancer predisposition Int J Cancer 106 2 292 296
26. J Wijnen H van der Klift H Vasen 1998 MSH2 genomic deletions are a frequent cause of HNPCC Nat Genet 20 4 326 328
27. SM Lipkin LS Rozek G Rennert 2004 The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer Nat Genet 36 7 694 699
28. DK Chang L Ricciardiello A Goel CL Chang CR Boland 2000 Steady-state regulation of the human DNA mismatch repair system J Biol Chem 275 37 29178
29. CL Chang G Marra DP Chauhan 2002 Oxidative stress inactivates the human DNA mismatch repair system Am J Physiol Cell Physiol 283 1 C148 C154
30. M Koshiji KK To S Hammer 2005 HIF-1alpha induces genetic instability by transcriptionally downregulating MutSalpha expression Mol Cell 17 6 793 803
31. CR Boland R Fishel 2005 Lynch syndrome: form, function, proteins, and basketball Gastroenterology 129 2 751 755
32. TE Raevaara MK Korhonen H Lohi 2005 Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1 Gastroenterology 129 2 537 549
33. MF Kane M Loda GM Gaida 1997 Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines Cancer Res 57 5 808 811
34. RB Chadwick JE Meek TW Prior P Peltomaki A de la Chapelle 2000 Polymorphisms in a pseudogene highly homologous to PMS2 Hum Mutat 16 6 530
35. R Gryfe H Kim ET Hsieh 2000 Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer N Engl J Med 342 2 69 77
36. MT Hawn A Umar JM Carethers 1995 Evidence for a connection between the mismatch repair system and the G2 cell cycle checkpoint Cancer Res 55 17 3721 3725
37. JM Carethers EJ Smith CA Behling 2004 Use of 5-fluorouracil and survival in patients with microsatellite-unstable colorectal cancer Gastroenterology 126 2 394 401
38. S Aebi B Kurdi-Haidar R Gordon 1996 Loss of DNA mismatch repair in acquired resistance to cisplatin Cancer Res 56 13 3087 3090
39. JM Carethers DP Chauhan D Fink 1999 Mismatch repair proficiency and in vitro response to 5-fluorouracil Gastroenterology 117 1 123 131
40. CM Ribic DJ Sargent MJ Moore 2003 Tumor microsatellite-instability status as a predictor of benefit from fluorouracil-based adjuvant chemotherapy for colon cancer N Engl J Med 349 3 247 257
41. P Benatti R Gafa D Barana 2005 Microsatellite instability and colorectal cancer prognosis Clin Cancer Res 11 23 8332 8340
42. R Jover P Zapater A Castells 2006 Mismatch repair status in the prediction of benefit from adjuvant fluorouracil chemotherapy in colorectal cancer Gut 55 6 848 855
43. T Jascur CR Boland 2006 Structure and function of the components of the human DNA mismatch repair system Int J Cancer 119 9 2030 2035
44. R Fishel 2001 The selection for mismatch repair defects in hereditary nonpolyposis colorectal cancer: revising the mutator hypothesis Cancer Res 61 20 7369 7374