Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer

Journal of Cancer Research and Clinical Oncology

Volumn 133, Issue 1, 2007, Pages 65-70

  Chaksangchaichot, P ^a   Punyarit, P ^b   Petmitr, S ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

^b PHRAMONGKUTKLAO HOSPITAL   (Thailand)

Author keywords

Gene mutations; hMLH1; hMSH2; hMSH6; Microsatellite instability; Sporadic colorectal cancer

Indexed keywords

PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ARTICLE; CARCINOGENESIS; CLINICAL ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; EXON; GENE INACTIVATION; GENE LOCUS; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; INTRON; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; PRIORITY JOURNAL;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; DNA MISMATCH REPAIR; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS;

EID: 33751509283     PISSN: 01715216     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00432-006-0147-z     Document Type: Article

References (35)

1. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S (1998) 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 58:5248-5257
2. Bubb VJ, Curetis LJ, Cunningham C, Dunlop MG, Carothers AD, Morris RG, White S, Bird CC, Wyllie AH (1996) Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer. Oncogene 12:2641-2649
3. Eshleman JR, Markowitz SD (1995) Microsatellite instability inherited and sporadic neoplasms. Curr Opin Oncol 7:83-89
4. Farrington SM, Lin-Goerke J, Ling J, Wang Y, Burczak JD, Robbins DJ, Dunlop MG (1998) Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. Am J Hum Genet 63:749-759
5. Fearon ER, Vogelstein B (1990) A genetic model for colorectal tumorigenesis. Cell 61:759-767
6. Fedier A, Fink D (2004) Mutations in DNA mismatch repair genes: Implications for DNA damage signaling and drug sensitivity. Int J Oncol 24:1039-1047
7. Fishel R, Lescoe MK, Rao MRS, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027-1038
8. Heinimann K, Scott RJ, Buerstedde J-M, Weber W, Eiebold K, Attenhofer M, Muller H, Dobbie Z (1999) Influence of selection criteria on mutation detection in patients with hereditary nonpolyposis colorectal cancer. Cancer 85:2512-2518
9. Holinski-Feder E, Muller-Koch Y, Friedl W, Moeslein G, Keller G, Plaschke J, Ballhausen W, Gross M, Baldwin-Jedele K, Jungck M, Mangold E, Vogelsang H, Schackert HK, Lohsea P, Murken J, Meitinger T (2001) DHPLC mutation analysis of the hereditary nonpolyposis colorectal cancer (HNPCC) genes hMLH1 and hMSH2. J Biochem Biophys Methods 47:21-32
10. Houlston RS (2001) What we could do now: molecular pathology of colorectal cancer. J Clin Pathol 54:206-214
11. Jacob S, Praz F (2002) DNA mismatch repair defects: role in colorectal Carcinogenesis. Biochimie 84:27-47
12. Jeong S-Y, Shin K-H, Shin J-H, Ku J-L, Shin Y-K, Park S-Y, Kim W-H, Park J-G (2003) Microsatellite instability and mutations in DNA mismatch repair genes in sporadic colorectal cancers. Dis Colon Rectum 46:1069-1077
13. Josef J, NystrÖm-Lahti M (2000) Mismatch repair defects in cancer. Curr Opin Genet Dev 10:157-161
14. Kámory E, Kolacsek O, Ottó S, Csuka O (2003) hMLH1 and hMSH2 somatic inactivation mechanisms in sporadic colorectal cancer patients. Pathol Oncol Res 9:236-241
15. Kariola R, Raevaara TE, Lönnqvist KE, Nyström-Lahti M (2002) Functional analysis of MSH6 mutations linked to kindreds with putative hereditary nonpolyposis colorectal cancer syndrome. Hum Mol Genet 11:1303-1310
16. Lee JS, Petrelli NJ, Rodriguez-Bigas MA (2001) Rectal cancer in hereditary nonpolyposis colorectal cancer. Am J Surg 181:207-210
17. Lipton LR, Johnson V, Cummings C, Fisher S, Risby P, Efterkhar Sadat AT, Cranston T, Izatt L, Sasieni P, Hodgson SV, Thomas HJW, Tomlinson IPM (2004) Refining the Amsterdam criteria and Bethesda guidelines: Testing algorithms for the prediction of mismatch repair mutation status in the familial cancer clinic. J Clin Oncol 22:4932-4943
18. Liu B, Nicolaides NC, Markowitz S, Willson JKV, Parsons RE, Jen J, Papadopolous N, Peltomäki P, de la Chapelle A, Hamilton SR, Kinzler KW, Vogelstein B (1995) Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet 9:48-55
19. Lucci-Cordisco E, Rovella V, Carrara S, Percesepe A, Pedroni M, Bellacosa A, Caluseriu O, Forasarig M, Anti M, Neri G, Ponz de Leon M, Viel A, Genuardi M (2001) Mutations of the minor mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer. Fam Cancer 1:93-99
20. Martin N, Patel N (2003) Cancer incidence and leading sites. In: Sriplung H, Sontipong S, Martin N, Wiangnon S, Vootripux V, Cheirsilpa A, Kanchanabat C, Khuhaprema T (eds) Cancer in Thailand, vol III, 1995-1997. National Cancer Institute, Thailand, pp 9-18
21. Miller SA, Dykes DD, Polesky HFA (1988) Simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
22. Mitchell RJ, Farrington SM, Dunlop MG, Campbell H (2002) Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review. Am J Epidemiol 156:885-902
23. Moslein G, Tester DJ, Lindor NM, Honchel R, Cunningham JM, French AJ, Halling KC, Schwab M, Goretzki P, Thibodeau SN (1996) Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary nonpolyposis colorectal cancer. Hum Mol Genet 5:1245-1252
24. Okuda T, Kawakami K, Ishiquro K, Oda M. Omura K, Watanaba G (2005) The profile of hMLH1 methylation and microsatellite instability in colorectal and non-small cell lung cancer. Int J Mol Med 15:85-90
25. Papadopoulos N, Nicolaides NC, Wei Y-W, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomaki P, Mecklin J-P, de la Chapelle A, Kinzler KW, Vogelstein B (1994) Mutation of mutL homology in hereditary colon cancer. Science 263:1625-1629
26. Peltomäki P (2001) Deficient DNA mismatch repair: a common etiologic factor for colon cancer. Hum Mol Genet 10:735-740
27. Petmitr S, Nuchfaong S, Chaksangchaichot P, Pongstaporn W, Sutinont P, Limsila T, Punyarit P (2002) Microsatellite alterations in non-small cell lung cancer. J Exp Clin Cancer Res 21:31-35
28. Rosai J (1996) Ackerman's surgical pathology, 8th edn, vol II. Mosby Year Book Inc., USA
29. Samowitz WS, Slattery ML, Potter JD, Leppert MF (1999) BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphism. Am J Path 154:1637-1641
30. Samowitz WS, Curtin K, Lin HH, Robertson MA, Schaffer D, Nichols M, Gruenthal K, Leppert MF, Slattery ML (2001) The colon cancer burden of genetically defined hereditary nonpolyposis colorectal cancer. Gastroenterology 121:830-838
31. Sanguansin S, Petmitr S, Punyarit P, Vorasubin V, Weerapradist W, Surarit R (2006) hMSH2 gene alterations associated with recurrence of oral squamous cell carcinoma. J Exp Clin Cancer Res 25:251-257
32. Scartozzi M, Bianchi F, Rosati S, Galizia E, Antolini A, Loretelli C, Piga A, Bearzi I, Cellerino R, Porfiri E (2002) Mutation of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer. J Clin Oncol 20:1203-1208
33. Vasen HFA, Watson P, Mecklin J-P, Lynch HT, the ICG-HNPCC (1999) New clinical creteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch Syndrome) proposed by the international collaborative group on HNPCC. Gastroenterology 116:1453-1456
34. Verma L, Kan MF, Brassett C, Schmeits J, Evans DGR, Kolodner RD, Maher ER (1999) Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer. J Med Genet 36:678-682
35. Weitz J, Koch M, Deblus J, Höhler T, Galle PR, Büchler MW (2005) Colorectal cancer. Lancet 365:153-165