Genomic instability and colorectal cancer

Current Opinion in Gastroenterology

Volumn 16, Issue 1, 2000, Pages 62-67

  Grady, William M ^a,c   Markowitz, Sanford ^a,b  

^a UNIVERSITY HOSPITALS OF CLEVELAND   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c Ireland Cancer Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; COLON CARCINOGENESIS; COLORECTAL CANCER; DNA DAMAGE; DNA POLYMORPHISM; GENE MUTATION; GENOME; HUMAN; MICROSATELLITE INSTABILITY; MITOSIS;

EID: 0034086655     PISSN: 02671379     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001574-200001000-00012     Document Type: Article

References (52)

1. 1 Aaltonen L, Peltomaki P, Leach F, Sistonen P, Pylkkanen L, Mecklin J, et al.: Clues to the pathogenesis of familial colorectal cancer. Science 1993, 260:812-816.
2. 2 Loeb L, Springgate C, Battula N: Errors in DNA replication as a basis of malignant changes. Cancer Res 1974, 34:2311-2321.
3. 3 Loeb L: Mutator phenotype may be required for multistage carcinogenesis. Cancer Res 1991, 51:3075-3079.
4. 4 Eshleman J, Lang E, Bowerfind G, Parsons R, Vogelstein B, Willson J, et al.: Increased mutation rate at the hprt locus accompanies microsatellite instability in colon cancer. Oncogene 1995, 10:33-37.
5. 5 Tomlinson I, Novelli M, Bodmer W: The mutation rate and cancer. Proc Natl Acad Sci U S A 1996, 93:14800-14803.
6. 6 Lengauer C, Kinzler K, Vogelstein B: Genetic instabilities in human cancers. Nature 1998, 396:643-649.
7. 7 Bardi G, Sukhikh T, Pandis N, Fenger C, Kronborg O, Heim S: Karyotypic characterization of colorectal adenocarcinomas. Genes Chromosome Cancer 1995, 12:97-109.
8. 8 Eshleman J, Casey G, Kochera M, Sedwick W, Swinler S, Veigl M, et al.: Chromosome number and structure both are markedly stable in RER colorectal cancers and are not destabilized by mutation of p53. Oncogene 1998, 17:719-725.
9. 9 Lengauer C, Kinzler K, Vogelstein B: Genetic instability in colorectal cancers. Nature 1997, 386:623-627.
10. 10 Aaltonen L, Peltomaki P, Mecklin J-P, Jarvinen H, Jass J, Green J, et al.: Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 1994, 54:1645-1648.
11. 11 Grady W, Rajput A, Myeroff L, Liu D, Kwon K-H, Willis J, Markowitz S: Mutation of the type II transforming growth factor-β receptor is coincident with the transformation of human colon adenomas to malignant carcinomas. Cancer Res 1998, 58:3101-3104.
12. 12 Jacoby R, Marshall D, Kailas S, Schlack S, Harms B, Love R: Genetic instability associated with adenoma to carcinoma progression in hereditary nonpolyposis colon cancer. Gastroenterology 1995, 109:73-82.
13. 13 Bomme L, Bardi G, Pandis N, Fenger C, Kronborg O, Heim S: Cytogenetic analysis of colorectal adenomas: karyotypic comparisons of synchronous tumors. Cancer Genet Cytogenet 1998, 106:66-71.
14. 14 Ried T, Heselmeyer-Haddad K, Blegen H, Schrock E, Auer G: Genomic changes defining the genesis, progression, and malignancy potential in solid human tumors: a phenotype/genotype correlation. Genes Chromosome Cancer 1999, 25:195-204.
15. 15 Rooney P, Murray G, Stevenson D, Haites N, Cassidy J, McLeod H: Comparative genomic hybridization and chromosomal instability in solid tumors. Br J Cancer 1999, 80:862-873.
16. 16 Eshleman J, Markowitz S: Microsatellite instability in inherited and sporadic neoplasms. Curr Opin Oncol 1995, 7:83-89.
17. 17 Kolodner RD: Biochemistry and genetics of eukaryotic mismatch repair. Genes Dev 1996, 10:1433-1442.
18. 18 Kane M, Loda M, Gaida G, Lipman J, Mishra R, Goldman H, et al.: 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 1997, 57:808-811.
19. 19 Veigl M, Kasturi L, Olechnowicz J, Ma A, Lutterbaugh J, Periyasamy S, et al.: Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci U S A 1998, 95:8698-8702. This paper shows that hypermethylation of hMLH1 is the mechanism that inactivates the MMR system in colon cancer and that the aberrant methylation is probably the primary pathogenetic event in MSI colon cancer.
20. 20 Herman J, Umar A, Polyak K, Graff J, Ahujia N, Issa J-PJ, et al.: Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A 1998, 95:6870-6875.
21. 21 Cui H, Horon I, Ohlsson R, Hamilton S, Feinberg A: Loss of imprinting in normal tissue of colorectal cancer patients with microsatellite instability. Nat Med 1998, 4:1276-1280. This paper identifies a strong association between loss of imprinting of insulin growth factor 2 and risk for MSI colon cancer. This suggests that abnormal gene methylation may be a primary event in the formation of sporadic MSI colon cancer.
22. 22 Bellacosa A, Cicchillitti L, Schepis F, Riccio A, Yeung A, Matsumoto Y, et al.: MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1. Proc Natl Acad Sci U S A 1999, 96:3969-3974.
23. 23 Percesepe A, Kristo P, Aaltonen L, Ponz de Leon M, de la Chapelle A, Peltomaki P: Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability. Oncogene 1998, 17:157-163.
24. 24 Yamamoto H, Sawai H, Perucho M: Frameshift somatic mutations in gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res 1997, 57:4420-4426.
25. 25 Yamamoto H, Sawai H, Weber T, Rodriguez-Bigas M, Perucho M: Somatic frameshift mutations in DNA mismatch repair and proapoptosis genes in hereditary nonpolyposis colorectal cancer. Cancer Res 1998, 58:997-1003.
26. 26 Perucho M: Cancer of the microsatellite mutator phenotype. Biol Chem 1996, 377:675-684.
27. 27 Markowitz S, Wang J, Myeroff L, Parsons R, Sun L, Lutterbaugh J, et al.: Inactivation of the type II TGF-β receptor in colon cancer cells with microsatellite instability. Science 1995, 268:1336-1338.
28. 28 Schwartz S, Yamamoto H, Navarro M, Maestro M, Reventos J, Perucho M: Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype. Cancer Res 1999, 59:2995-3002. This is a relatively comprehensive analysis of the incidence of target gene mutations in the microsatellite mutator pathway in gastrointestinal cancer.
29. 29 Ikeda M, Orimo H, Moriyama H, Nakajima E, Matsubara N, Mibu R, et al.: Close correlation between mutations of E2F4 and hMSH3 genes in colorectal cancers with microsatellite instability. Cancer Res 1998, 58:594-598.
30. 30 Mirabelli-Primdahl L, Gryfe R, Kim H, Millar A, Luceri C, Dale D, et al.: β-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res 1999, 59:3346-3351.
31. 31 Kitaeva M, Grogan L, Williams J, Dimond E, Nakahara K, Hausner P, et al.: Mutations in β-catenin are uncommon in colorectal cancer occurring in occasional replication error-positive tumors. Cancer Res 1997, 57:4478-4481.
32. 32 Parsons R, Myeroff L, Liu B, Willson J, Markowitz S, Kinzler K, Vogelstein B: Microsatellite instability and mutations of the transforming growth factor β type II receptor gene in colorectal cancer. Cancer Res 1995, 55:5548-5550.
33. 33 Mertens F, Johansson B, Hoglund M, Mitelman F: Chromosomal imbalance maps of malignant solid tumors: a cytogenetic survey of 3185 neoplasms. Cancer Res 1997, 57:2765-2780.
34. 34 Ried T, Knutzen R, Steinbeck R, Biegen H, Schrock E, Heselmeyer K, et al.: Comparative genomic hybridization reveals a specific pattern of chromosomal gains and losses during the genesis of coloreclal tumors. Genes Chromosome Cancer 1996, 15:234-245.
35. 35 Phear G, Bhattacharyya N, Meuth M: Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines. Mol Cell Biol 1996, 16:6516-6523.
36. 36 Cahill D, Lengauer C, Yu J, Riggins G, Willson J, Markowitz S, et al.: Mutations of mitotic checkpoint genes in human cancers. Nature 1998, 392:300-303. This paper was the first to identify specific genetic alterations that cause CIN in colorectal cancer. This finding suggests that CIN, in general, may be the result of mutations in genes that control mitotic checkpoints.
37. 37 Li Y, Benezra R: Identification of a human mitotic checkpoint gene: hsMAD2. Science 1996, 274:246-248.
38. 38 Jin D, Spencer F, Jeang K: Human T cell leukemia virus type 1 oncoprotein Tax targets the human mitotic checkpoint protein MAD1. Cell 1998, 93:81-91.
39. 39 Bao S, Chang M-S, Auclair D, Sun Y, Wang Y, Wong W-K, et al.: HRad17, a human homologue of the Schizosaccharomyces pombe checkpoint gene rad17, is overexpressed in colon carcinoma. Cancer Res 1999, 59:2023-2028.
40. 40 Rotman G, Shiloh Y: ATM: from gene to function. Hum Mol Genet 1998, 7:1555-1563.
41. 41 Smith L: Duplication of ATR inhibits MyoD, induces aneuploidy and eliminates radiation-induced G1 arrest. Nat Genet 1998, 19:39-46.
42. 42 Zhang H, Tombline G, Weber B: BRCA1, BRCA2, and DNA damage response: collision or collusion. Cell 1998, 92:433-436.
43. 43 Lane D: Awakening angels. Nature 1998, 394:616-617.
44. 44 Zhou H, Kuang J, Zhong L, Kuo W-L, Gray J, Sahin A, et al.: Tumour amplified kinase STK15/BTAK induces centrosome amplification, aneuploidy and transformation. Nat Genet 1998, 20:189-193. This paper shows that overexpression of a centrosome-associated kinase can lead to aneuploidy. This finding is of interest because this kinase is often amplified and overexpressed in many types of human tumors.
45. 45 Messerini L, Ciantelli M, Baglioni S, Palomba A, Zampi G, Papi L: Prognostic significance of microsatellite instability in sporadic mucinous colorectal cancers. Hum Pathol 1999, 30:629-634.
46. 46 Feeley K, Fullard J, Heneghan M, Smith T, Maher M, Murphy R, O'Gorman T: Microsatellite instability in sporadic colorectal carcinoma is not an indicator of prognosis. J Pathol 1999, 188:14-17.
47. 47 Iacopetta B, Welch J, Soong R, House A, Zhou X, Hamelin R: Mutation of the transforming growth factor-beta type II receptor gene in right-sided colorectal cancer: relationship to clinicopathological features and genetic alterations. J Pathol 1998, 184:390-395.
48. 48 Abbott D, Freeman M, Holt J: Double-strand break repair deficiency and radiation sensitivity in BRCA2 mutant cancer cells. J Natl Cancer Inst 1998, 90:978-985.
49. 49 Paredes-Zaglul A, Kang J, Essig Y, Mao W, Irby R, Wloch M, Yeatman T: Analysis of colorectal cancer by comparative genomic hybridization: evidence for induction of the metastatic phenotype by loss of tumor suppressor genes. Clin Cancer Res 1998, 4:879-886.
50. 50 Ouyang A, Furukawa T, Tadayoshi A, Kato Y, Horii A: The BAX gene, the promoter of apoptosis, is mutated in genetically unstable cancers of the colorectum, stomach, and endometrium. Clin Cancer Res 1998, 4:1071-1074.
51. 51 Ouyang H, Shiwaku H, Hagiwara H, Miura K, Abe T, Kato Y, et al.: The insulin-like growth factor II receptor is mutated in genetically unstable cancers of the endometrium, stomach, and colorectum. Cancer Res 1997, 57:1851-1854.
52. 52 Huang J, Papadopoulos N, McKinley A, Farrington S, Curtis L, Wyllie A, et al.: APC mutations in colorectal tumors with mismatch repair deficiency. Proc Natl Acad Sci U S A 1996, 93:9049-9054.