Most low-level microsatellite instability in colorectal cancers can be explained without an elevated slippage rate

Journal of Pathology

Volumn 215, Issue 2, 2008, Pages 204-210

  Graham, T ^a,b   Halford, S ^b   Page, K M ^a   Tomlinson, I P M ^b,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Colorectal cancer; Mathematical model; Microsatellite instability; MSI H; MSI L; MSS

Indexed keywords

ADULT; AGED; ALLELE; ARTICLE; CANCER GROWTH; CLINICAL ARTICLE; COLORECTAL CANCER; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE COURSE; DISEASE SEVERITY; FEMALE; GENE LOCUS; GENOTYPE; GERM LINE; HUMAN; HUMAN TISSUE; MALE; MATHEMATICAL MODEL; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL;

ADENOCARCINOMA; AGED; AGED, 80 AND OVER; ALLELES; COLORECTAL NEOPLASMS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MODELS, GENETIC; POLYMERASE CHAIN REACTION;

EID: 44649083090     PISSN: 00223417     EISSN: 10969896     Source Type: Journal    
DOI: 10.1002/path.2351     Document Type: Article

References (26)

1. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature 1993;363:558-561.
2. de la Chapelle A. Genetic predisposition to colorectal cancer. Nature Rev Cancer 2004;4:769-780.
3. Hoeijmakers JH. Genome maintenance mechanisms for preventing cancer. Nature 2001;411:366-374.
4. Kinzler KW, Vogelstein B. Lessons from hereditary colorectal cancer. Cell 1996;87:159-170.
5. Kane MF, Loda M, Gaida GM, 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.
6. Veigl ML, Kasturi L, Olechnowicz J, Ma AH, Lutterbaugh JD, 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.
7. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, et al. 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 1998;58:5248-5257.
8. Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004;96:261-268.
9. Tomlinson I, Halford S, Aaltonen L, Hawkins N, Ward R. Does MSI-low exist? J Pathol 2002;197:6-13.
10. Gonzalez-Garcia I, Moreno V, Navarro M, Marti-Rague J, Marcuello E, Benasco C, et al. Standardized approach for microsatellite instability detection in colorectal carcinomas. J Natl Cancer Inst 2000;92:544-549.
11. Bhattacharyya NP, Skandalis A, Ganesh A, Groden J, Meuth M. Mutator phenotypes in human colorectal carcinoma cell lines. Proc Natl Acad Sci U S A 1994;91:6319-6323.
12. Hanford MG, Rushton BC, Gowen LC, Farber RA. Microsatellite mutation rates in cancer cell lines deficient or proficient in mismatch repair. Oncogene 1998;16:2389-2393.
13. Kruglyak S, Durrett RT, Schug MD, Aquadro CF. Equilibrium distributions of microsatellite repeat length resulting from a balance between slippage events and point mutations. Proc Natl Acad Sci U S A 1998;95:10774- 10778.
14. Lai Y, Sun F. The relationship between microsatellite slippage mutation rate and the number of repeat units. Mol Biol Evol 2003;20:2123- 2131.
15. Elmore E, Kakunaga T, Barrett JC. Comparison of spontaneous mutation rates of normal and chemically transformed human skin fibroblasts. Cancer Res 1983;43:1650-1655.
16. Loeb LA. A mutator phenotype in cancer. Cancer Res 2001;61:3230-3239.
17. Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, et al. The consensus coding sequences of human breast and colorectal cancers. Science 2006;314:268-274.
18. Wang TL, Rago C, Silliman N, Ptak J, Markowitz S, Willson JK, et al. Prevalence of somatic alterations in the colorectal cancer cell genome. Proc Natl Acad Sci U S A 2002;99:3076-3080.
19. Laiho P, Launonen V, Lahermo P, Esteller M, Guo M, Herman JG, et al. Low-level microsatellite instability in most colorectal carcinomas. Cancer Res 2002;62:1166-1170.
20. Halford S, Sasieni P, Rowan A, Wasan H, Bodmer W, Talbot I, et al. Low-level microsatellite instability occurs in most colorectal cancers and is a nonrandomly distributed quantitative trait. Cancer Res 2002;62:53-57.
21. Halford SE, Sawyer EJ, Lambros MB, Gorman P, Macdonald ND, Talbot IC, et al. MSI-low, a real phenomenon which varies in frequency among cancer types. J Pathol 2003;201:389-394.
22. Stone JG, Tomlinson IP, Houlston RS. Optimising methods for determining RER status in colorectal cancers. Cancer Lett 2000;149:15-20.
23. Sieben NL, ter Haar NT, Cornelisse CJ, Fleuren GJ, Cleton-Jansen AM. PCR artifacts in LOH and MSI analysis of microdissected tumor cells. Hum Pathol 2000;31:1414-1419.
24. Tsao JL, Yatabe Y, Salovaara R, Jarvinen HJ, Mecklin JP, Aaltonen LA, et al. Genetic reconstruction of individual colorectal tumor histories. Proc Natl Acad Sci U S A 2000;97:1236-1241.
25. Jass JR, Biden KG, Cummings MC, Simms LA, Walsh M, Schoch E, et al. Characterisation of a subtype of colorectal cancer combining features of the suppressor and mild mutator pathways. J Clin Pathol 1999;52:455-460.
26. Whitehall VL, Walsh MD, Young J, Leggett BA, Jass JR. Methylation of O-6-methylguanine DNA methyltransferase characterizes a subset of colorectal cancer with low-level DNA microsatellite instability. Cancer Res 2001;61:827-830.