DNA-mismatch repair and hereditary nonpolyposis colorectal cancer syndrome

In Vivo

Volumn 17, Issue 1, 2003, Pages 55-59

  Müller, Annegret ^a   Korabiowska, Monika ^a   Brinck, Ulrich ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

Author keywords

Colorectal cancer; DNA mismatch repair; Hereditary nonpolyposis; Review

Indexed keywords

CA 125 ANTIGEN; ENDONUCLEASE; PROTEIN P53;

COLON RESECTION; COLORECTAL CANCER; ESCHERICHIA COLI; FAMILIAL INCIDENCE; GENE DELETION; GENE INSERTION SEQUENCE; GENE MUTATION; HIGH RISK PATIENT; HUMAN; INTER SIMPLE SEQUENCE REPEAT; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; NONHUMAN; PROKARYOSIS; PROTEIN EXPRESSION; REVIEW; BASE MISPAIRING; COLORECTAL TUMOR; DNA REPAIR; GENETICS; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY;

BASE PAIR MISMATCH; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; HUMANS; MUTATION;

EID: 0037237711     PISSN: 0258851X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (48)

1. Modrich P: DNA mismatch correction. Annu Rev Biochem 56: 435-66, 1987.
2. Modrich P: Mechanisms and biological effects of mismatch repair. Annu Rev Genet 25: 299-253, 1991.
3. Modrich P: Methyl-directed DNA mismatch correction. J Biol Chem 264: 6597-600, 1989.
4. Ionov Y, Peinado A, Malkhosyan S, Shibata D and Perucho M: Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 363: 558-561, 1993.
5. Aaltonen LA, Peltomäki P, Leach FS, Sistonen P, Pylkkänen L, Mecklin JP, Järvinen H, Powell SM, Jen J, Hamilton SR et al: Clues to the pathogenesis of familial colorectal cancer. Science 260: 812-815, 1993.
6. Aaltonen LA, Peltomäki P, Mecklin JP, Järvinen H, Jass JR, Green JS, Lynch HT, Watson P, Tallqvist G and Juhola M: Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 54: 1645-1648, 1994.
7. Thibodeau SN, Bren G and Schaid D: Microsatellite instability in cancer of the proximal colon. Science 260: 816-819, 1993.
8. Loeb LA: Mutator phenotype may be required for multistage carcinogenesis. Cancer Res 51: 3075-3079, 1991.
9. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M and Kolodner R: The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colorectal cancer. Cell 75: 1027-1038, 1993.
10. Lu AL, Clark S and Modrich P: Methyl-directed repair of DNA base-pair mismatches in vitro. Proc Natl. Acad Sci USA 80: 4639-43, 1983.
11. Su SS, Lahue RS, Au KG and Modrich P: Mispair specificity of methyl-directed DNA mismatch in vitro. J Biol Chem 263: 6829-6835, 1988.
12. Modrich P: Strand specific mismatch repair in mammalian cells. J Biol Chem 272: 24727-24730, 1997.
13. Strand M, Prolla TA, Likay RM and Petes TD: Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair. Nature 365: 274-276, 1993.
14. Lahue RS, Su SS and Modrich P: Requirement for d(GATC) sequences in Escherichia coli mutHLS mismatch correction. Proc Natl Acad Sci USA 84: 1482-1486, 1987.
15. Su SS and Modrich P: Escherichia coli - mutS-encoded protein binds to mismatched DNA base pairs. Proc Natl Acad Sci USA 83: 5057-5061, 1986.
16. Parson R, Li GM, Longley MJ, Fang WH, Papadopoulos N, Jen J, De La Chapelle A, Kinzler KW, Vogelstein B and Modrich P: Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell 75: 1227-1236, 1993
17. Peltomäki PT, Lothe RA, Aaltonen LA, Pylkkänen L, Nyström-Lathi M, Seruca R, David L, Holm R, Ryberg D and Haugen A: Microsatellite instability is associated with tumors that characterize the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer Res 53: 5853-5855, 1993.
18. Tautz D: Notes on the definition and nomenclature of tandemly repetitive DNA sequences. EXS 67: 21-28, 1993.
19. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J and Lindbloom A: Mutation in the DNA mismatch repair gene homologue hMLHI is associated with hereditary nonpolyposis colorectal cancer. Nature 368: 258-261, 1994.
20. Papadopoulos N, Nicolaides NC, Wei YF, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM and Adams MD: Mutation of a mutL homolog in hereditary colon cancer. Science 263: 1625-1629, 1994.
21. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD and Fraser CM: Mutations of two PMS homologues in hereditary nonpolyposis colorectal cancer. Nature 371: 75-80, 1994.
22. Papadopoulos N, Nicolaides NC, Liu B, Parson P, Lengauer C, Palombo F, D'Arrigo A, Markowitz S, Wilson JKV, Kinzler KW, Jiricny J and Vogelstein B: Mutations of GTBP in genetically unstable cells. Science 268: 1915-1917, 1995.
23. Hahn SA and Schmiegel WH: Mutationen der Gene hMSH2 und hMLHI sind für 90% der hereditären kolorektalen Karzinome verantwortlich. Z Gastroenterol 33: 135-137, 1995.
24. Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF and Puisieux A: Prevalence of germline mutations of hMHLI, hMSH2, hPMSI, hPMS2 and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. Hum Genet 105: 79-85, 1999.
25. Liu B, Parsons R, Papadopoulos N, Nicolaides NC, Lynch HT, Watson P, Jass JR, Dunlop M, Wyllie A, Peltomaki P, De La Chapelle A, Hamilton SR, Vogelstein B and Kinzler I: Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nature Med 2: 169-174, 1996.
26. Lynch HT and Lynch JF: The Lynch syndromes. Curr Opin Oncol 5: 687-696, 1993.
27. Lynch HT, Shaw MW, Magnusson CW, Larsen AL and Krush AJ: Hereditary factors in cancer. Study of two large midwestern kindreds. Arch Intern Med 117: 206-212, 1966
28. Mecklin JP, Jarvinen HJ and Peltokallio P: Cancer family syndrome: Genetic analysis of 22 Finish kindreds. Gastroenterology 90: 328-333, 1986.
29. Aaltonen LA, Sankila R, Mecklin JP, Jarvinen H, Pukkala E, Peltomaki P and De La Chapelle AL: A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of the total cancer burden. Cancer Detec Prev 18: 57-63, 1994.
30. Vasen HF, Mecklin JP, Meera KP and Lynch HT: The international collaborative group on hereditary non-polyposis colorectal cancer (ICGHNPCC). Dis Colon Rectum 34: 424, 1991.
31. Rodriguez-Bigas MA, Boland CR, Hamilton SR, Henson DE, Jass JR, Khan PM, Lynch HT, Perucho M, Smyrk T and Sobin L: A national cancer workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda criteria. J Natl Cancer Inst 23: 1758-1762, 1997.
32. Bocker T, Diermann J, Friedl W, Gebert J, Holinski-Feder E, Karner-Hanusch J, Von Knebel-Doeberitz M, Koelble K, Moeslein G, Schackert HK, Wirtz HC, Fishel R and Ruschoff J: Microsatellite instability analysis: A multicenter study for reliability and quality control. Cancer Res 57: 4739-4743, 1997.
33. Dietmaier W, Wallinger S, Bocker T, Kullmann F, Fishel R and Rueschoff J: Diagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression. Cancer Res 57: 4749-4756, 1997.
34. Ruschoff J, Bocker T, Schlegel J, Stumm G and Hofstaedter F: Microsatellite instability: New aspects in the carcinogenesis of colorectal carcinomas. Virchow Arch 426: 215-222, 1995.
35. Thibodeau SN, French AJ, Roche PC, Cunningham JM, Tester DJ, Lindor NM, Moeslein G, Baker SM, Liskay RM, Burgart LJ, Honchel R and Halling KC: Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res 56: 4836-4840, 1996.
36. Lynch HT, Lanspa S, Smyrk T, Boman B, Watson P and Lynch JF: Hereditary non-polyposis colorectal cancer (Lynch syndromes I & II). Genetics, pathology, natural history, and cancer control, Part 1. J Cancer Genet Cytogenet 53: 143-160, 1991.
37. Lynch HT, Smyrk TC, Watson P, Lanspa SJ, Lynch JF, Lynch PM, Cavalieri RJ and Boland CR: Genetics, natural history, tumor spectrum and pathology of hereditary nonpolyposis colorectal cancer: An updated review Gastroenterology 104: 1535-1549, 1993.
38. Vasen HF, Offerhaus GJ, Den Hartog Jager FC, Menko FH, Nagengast FM, Griffloen G, Van Hogezand RB and Heintz AP: The tumor spectrum in hereditary non-polyposis colorectal cancer: A study of 24 kindreds in the Netherlands. Int J Cancer 46: 31-34, 1990.
39. Vasen HF, Den Hartog Jager FC, Menko FH and Nagengast FM: Screening for hereditary non-polyposis colorectal cancer: A study of 22 kindreds in the Netherlands. Am J Med 86: 278-281, 1989.
40. Ponz De Leon M, Sassateli R and Benatti P: Identification of hereditary nonpolyposis colorectal cancer in the general population. Cancer 71: 34933501, 1993.
41. Jass A, Do KA, Simms LA, Lino H, Wynter C, Pillay SP, Searle J, Radford-Smith G, Young J and Leggett B: Morphology of sporadic colorectal cancer with DNA replication errors. Gut 42: 673-679, 1998.
42. Frei JV: Hereditary nonpolyposis colorectal cancer (Lynch syndrome 2): Diploid malignancies with prolonged survival. Cancer 69: 1108-1111, 1992.
43. Kouri M, Laasonen A, Mecklin JP, Jarvinen H, Franssila K and Pyrhonen S: Diploid predominance in hereditary nonpolyposis colorectal cancer evaluated by flow cytometry. Cancer 65: 1825-1829, 1990.
44. Aarnio M, Mecklin JP, Aaltonen LA, Nystrom-Lahti M and Jarvinen HJ: Lifetime risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer 64: 430-433, 1995.
45. Jarvinen HJ, Mecklin JP and Sistonen P: Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer Gastroenterology 108: 1405-11, 1995.
46. Buhr HJ, Heuschen UA, Stem J and Herfarth C: Continence preserving operation after proctocolectomy. Indications, technique and results. Chirurg 64: 601-613, 1993.
47. Vasen HF, Wijnen JT, Menko FH, Kleibeuker JH, Taal BG, Griffloen G, Nagengast FM, Meijers-Heijboer EH, Bertario L, Varesco L, Bisgaard ML, Mohr J, Fodde R and Khan PM: Cancer risk in families with hereditary nonpolyposis colorectal. Cancer diagnosed by mutation analysis. Gastroenterology 110: 1020-1027, 1996.
48. Weber T: Clinical surveillance recommendations adopted for HNPCC. Lancet 348: 465-471, 1996.