DNA microsatellite instability and mismatch repair protein loss in adenomas presenting in hereditary non-polyposis colorectal cancer

Gut

Volumn 47, Issue 1, 2000, Pages 37-42

  Iino, H ^a   Simms, L ^c   Young, J ^c   Arnold, J ^d   Winship, I M ^d   Webb, S I ^a   Furlong, K L ^a   Leggett, B ^c   Jass, J R ^b  

^a UNIVERSITY OF YAMANASHI   (Japan)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^d AUCKLAND CITY HOSPITAL   (New Zealand)

Author keywords

Adenoma; Hereditary non polyposis colorectal cancer; Microsatellite instability; Mismatch repair

Indexed keywords

CELL PROTEIN; MICROSATELLITE DNA;

ADENOMATOUS POLYP; ADULT; ARTICLE; BASE MISPAIRING; CLINICAL ARTICLE; COLON CARCINOGENESIS; COLORECTAL CANCER; CONTROLLED STUDY; DISEASE MARKER; DNA REPAIR; DYSPLASIA; FEMALE; GENE EXPRESSION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL; PROTEIN DEPLETION; TUMOR VOLUME;

ADENOMA; ADULT; COLON; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA REPAIR; DNA, NEOPLASM; FEMALE; HUMANS; HYPERPLASIA; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; PRECANCEROUS CONDITIONS;

EID: 0033914750     PISSN: 00175749     EISSN: None     Source Type: Journal    
DOI: 10.1136/gut.47.1.37     Document Type: Article

References (41)

1. 1 Jass JR. Colorectal adenomas in surgical specimens from subjects with hereditary non-polyposis colorectal cancer. Histopathology 1995;27:263-7.
2. 2 Shibata D, Navidi W, Salovaara R, et al. Somatic microsatellite mutations as molecular tumor clocks. Nat Med 1996;2: 676-81.
3. 3 Vasen HFA, Nagengast FM, Meera Khan P. Interval cancers in hereditary non-polyposis colorectal cancer (Lynch syndrome). Lancet 1995;345:1183-4.
4. 4 Jass JR, Stewart SM, Stewart J, et al. Hereditary non-polyposis colorectal cancer: morphologies, genes and mutations. Mutat Res 1994;290:125-33.
5. 5 Ahlquist DA. Aggressive polyps in hereditary nonpolyposis colorectal cancer: targets for screening. Gastroenterology 1995;108:1590-2.
6. 6 Aaltonen LA, Peltomaki PS, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993; 260:812-16.
7. 7 Konishi M, Kikuchi-Yanoshita R, Tanaka K, et al. Molecular nature of colon tumor in hereditary nonpolyposis colorectal cancer, familial polyposis, and sporadic colon cancer. Gastroenterology 1996;111:307-17.
8. 8 Jass JR, Biden KG, Cummings MC, et al. Characterization of a subtype of colorectal cancer combing features of the suppressor and mild mutator pathways. J Clin Pathol 1999; 52:455-60.
9. 9 Simms LA, Radford-Smith G, Biden KG, et al. Reciprocal relationship between the tumor suppressors p53 and BAX in primary colorectal cancers. Oncogene 1998;17:2003-8.
10. 10 Markowitz S, Wang J, Myeroff L, et al. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. Science 1995;268:1336-8.
11. 11 Souza RF, Appel R, Yin J, et al. Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumors. Nat Genet 1996;14:255-7.
12. 12 Rampino N, Yamamoto H, Ionov Y, et al. Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. Science 1997;275: 967-9.
13. 13 Wicking C, Simms LA, Evans T, et al. CDX2, a human homologue of Drosophila caudal, is mutated in both alleles in a replication error positive colorectal cancer. Oncogene 1998;17:657-9.
14. 14 Fujiwara T, Stolker JM, Watanabe T, et al. Accumulated clonal genetic alterations in familial and sporadic colorectal carcinomas with widespread instability in microsatellite sequences. Am J Pathol 1998;153:1063-78.
15. 15 Schwartz S, Yamamoto H, Navarro M, et al. 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.
16. 16 Akiyama Y, Iwanaga R, Saitoh K, et al. Transforming growth factor B type II receptor gene mutations in adenomas hereditary nonpolyposis colorectal cancer. Gastroenterology 1997;112:33-9.
17. 17 Heinen CD, Shivapurkar N, Tang Z, et al. Microsatellite instability in aberrant crypt foci from human colons. Cancer Res 1996;56:5339-41.
18. 18 Grady WM, Rajput A, Myeroff L, et al. Mutation of the type II transforming growth factor-beta receptor is coincident with the transformation of human colon adenomas to malignant carcinomas. Cancer Res 1998;58:3101-4.
19. 19 Yagi OK, Akiyama Y, Nomizu T, et al. Proapoptotic gene BAX is frequently mutated in hereditary nonpolyposis colorectal cancers but not in adenomas. Gastroenterology 1998;114:268-74.
20. 20 Jacoby RF, Marshall DJ, Kailas S, et al. Genetic instability associated with adenoma to carcinoma progression in hereditary nonpolyposis colon cancer. Gastroenterology 1995;109:73-82.
21. 21 Yamamoto H, Sawai H, Perucho M. Frameshift somatic mutations in gastrointestinal cancer of the microsatellite instability mutator phenotype. Cancer Res 1997;57:4420-6.
22. 22 Vasen HF, Mecklin JP, Khan PM, et al. The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 1991;34: 424-5.
23. 23 Iino H, Jass JR, Simms LA, et al. DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer? J Clin Pathol 1999;52:5-9.
24. 24 Mäkelä TP, Hellsten E, Vesa J, et al. An Alu variable polyA repeat polymorphism upstream of L-myc at 1p32. Hum Mol Genet 1992;1:217.
25. 25 Leach FS, Nicolaides NC, Sistonen P, et al. Three dinucleotide repeat polymorphisms proximal to the D2S123 locus. Hum Mol Genet 1994;3:2082.
26. 26 Spirio L, Joslyn G, Nelson L, et al. A CA repeat 30-70 KB downstream from the adenomatous polyposis coli (APC) gene. Nucleic Acids Res 1991;19:6348.
27. 27 Weissenbach J, Gyapay G, Dib C, et al. A second generation linkage map of the human genome. Nature 1992;359:794 801.
28. 28 Dib C, Faure S, Fizames C, et al. A comprehensive map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
29. 29 Parsons R, Myeroff LL, Liu B, et al. Microsatellite instability and mutations of the transforming growth factor β type II receptor gene in colorectal cancer. Cancer Res 1995;55: 5548-50.
30. 30 Biden KG, Simms LA, Cummings M, et al. Expression of Bcl-2 protein is decreased in colorectal adenocarcinomas with microsatellite instability. Oncogene 1999;18:1245-9.
31. 31 Myeroff LL, Parsons R, Kim S-J, et al. A transforming growth factor β receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability. Cancer Res 1995:55:5545-7.
32. 32 Malkhosyan S, Rampino N, Yamamoto H, et al. Frameshift mutator mutations. Nature 1996;382:499-500.
33. 33 Aaltonen LA, Peltomäki P, Mecklin JP, et al. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 1994; 54:1645-8.
34. 34 Cawkwell L, Gray S, Murgatroyd H, et al. Choice of management strategy for colorectal cancer based on diagnostic immunohistochemical test for defective mismatch repair. Gut 1999;45:409-15.
35. 35 Reitmair AH, Cai J-C, Bjerknes M, et al. MSH2 deficiency contributes to accelerate APC-mediated intestinal tumorigenesis. Cancer Res 1996;56:2922-6.
36. 36 Wrana JL, Attisano L, Wieser R, et al. Mechanism of activation of the TGF-β receptor. Nature 1994;370:341-7.
37. 37 Oltvai ZN, Milliman CL, Korsmeyer SJ. Bcl-2 heterodimerizes in vivo with a conserved homolog, BAX, that accelerates programed cell death. Cell 1993;74:609-19.
38. 38 Johnson RE, Kovvali GK, Prakash L, et al. Requirement of the Yeast MSH3 and MSH6 genes for MSH2-dependent genomic stability. J Biol Chem 1996;271:7285-8.
39. 39 Akiyama Y, Sato H, Yamada T, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 1997;57:3920 3.
40. 40 Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science 1993;260:816-19.
41. 41 Jass JR, Cottier DS, Pokos V, et al. Mixed epithelial polyps in association with hereditary non-polyposis colorectal cancer providing an alternative pathway of cancer histogenesis. Pathology 1997;29:28-33.