Skip to main content
PMC home page
Gut logoLink to Gut
. 1999 Jul;45(1):1–4. doi: 10.1136/gut.45.1.1

Microsatellite instability

I FRAYLING 1
PMCID: PMC1727570  PMID: 10369691

Full Text

The Full Text of this article is available as a PDF (69.4 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Aaltonen L. A., Peltomäki P., Leach F. S., Sistonen P., Pylkkänen L., Mecklin J. P., Järvinen H., Powell S. M., Jen J., Hamilton S. R. Clues to the pathogenesis of familial colorectal cancer. Science. 1993 May 7;260(5109):812–816. doi: 10.1126/science.8484121. [DOI] [PubMed] [Google Scholar]
  2. Aaltonen L. A., Peltomäki P., Mecklin J. P., Järvinen H., Jass J. R., Green J. S., Lynch H. T., Watson P., Tallqvist G., Juhola M. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res. 1994 Apr 1;54(7):1645–1648. [PubMed] [Google Scholar]
  3. Aaltonen L. A., Salovaara R., Kristo P., Canzian F., Hemminki A., Peltomäki P., Chadwick R. B., Käriäinen H., Eskelinen M., Järvinen H. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med. 1998 May 21;338(21):1481–1487. doi: 10.1056/NEJM199805213382101. [DOI] [PubMed] [Google Scholar]
  4. Bocker T., Diermann J., Friedl W., Gebert J., Holinski-Feder E., Karner-Hanusch J., von Knebel-Doeberitz M., Koelble K., Moeslein G., Schackert H. K. Microsatellite instability analysis: a multicenter study for reliability and quality control. Cancer Res. 1997 Nov 1;57(21):4739–4743. [PubMed] [Google Scholar]
  5. Branch P., Hampson R., Karran P. DNA mismatch binding defects, DNA damage tolerance, and mutator phenotypes in human colorectal carcinoma cell lines. Cancer Res. 1995 Jun 1;55(11):2304–2309. [PubMed] [Google Scholar]
  6. Brown S. R., Finan P. J., Cawkwell L., Quirke P., Bishop D. T. Frequency of replication errors in colorectal cancer and their association with family history. Gut. 1998 Oct;43(4):553–557. doi: 10.1136/gut.43.4.553. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Brown S. R., Finan P. J., Hall N. R., Bishop D. T. Incidence of DNA replication errors in patients with multiple primary cancers. Dis Colon Rectum. 1998 Jun;41(6):765–769. doi: 10.1007/BF02236266. [DOI] [PubMed] [Google Scholar]
  8. Ciotta C., Ceccotti S., Aquilina G., Humbert O., Palombo F., Jiricny J., Bignami M. Increased somatic recombination in methylation tolerant human cells with defective DNA mismatch repair. J Mol Biol. 1998 Mar 6;276(4):705–719. doi: 10.1006/jmbi.1997.1559. [DOI] [PubMed] [Google Scholar]
  9. Evans D. G., Walsh S., Jeacock J., Robinson C., Hadfield L., Davies D. R., Kingston R. Incidence of hereditary non-polyposis colorectal cancer in a population-based study of 1137 consecutive cases of colorectal cancer. Br J Surg. 1997 Sep;84(9):1281–1285. [PubMed] [Google Scholar]
  10. Fujiwara T., Stolker J. M., Watanabe T., Rashid A., Longo P., Eshleman J. R., Booker S., Lynch H. T., Jass J. R., Green J. S. Accumulated clonal genetic alterations in familial and sporadic colorectal carcinomas with widespread instability in microsatellite sequences. Am J Pathol. 1998 Oct;153(4):1063–1078. doi: 10.1016/S0002-9440(10)65651-9. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Furlan D., Tibiletti M. G., Taborelli M., Albarello L., Cornaggia M., Capella C. The value of microsatellite instability in the detection of HNPCC families and of sporadic colorectal cancers with special biological features: an investigation on a series of 100 consecutive cases. Ann Oncol. 1998 Aug;9(8):901–906. doi: 10.1023/a:1008307611407. [DOI] [PubMed] [Google Scholar]
  12. Hoang J. M., Cottu P. H., Thuille B., Salmon R. J., Thomas G., Hamelin R. BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res. 1997 Jan 15;57(2):300–303. [PubMed] [Google Scholar]
  13. Hunter N., Borts R. H. Mlh1 is unique among mismatch repair proteins in its ability to promote crossing-over during meiosis. Genes Dev. 1997 Jun 15;11(12):1573–1582. doi: 10.1101/gad.11.12.1573. [DOI] [PubMed] [Google Scholar]
  14. Iacopetta B., Hamelin R. Rapid and nonisotopic SSCP-based analysis of the BAT-26 mononucleotide repeat for identification of the replication error phenotype in human cancers. Hum Mutat. 1998;12(5):355–360. doi: 10.1002/(SICI)1098-1004(1998)12:5<355::AID-HUMU9>3.0.CO;2-C. [DOI] [PubMed] [Google Scholar]
  15. Iino H., Jass J. R., Simms L. A., Young J., Leggett B., Ajioka Y., Watanabe H. DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer? J Clin Pathol. 1999 Jan;52(1):5–9. doi: 10.1136/jcp.52.1.5. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Jiricny J. Replication errors: cha(lle)nging the genome. EMBO J. 1998 Nov 16;17(22):6427–6436. doi: 10.1093/emboj/17.22.6427. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Karran P., Hampson R. Genomic instability and tolerance to alkylating agents. Cancer Surv. 1996;28:69–85. [PubMed] [Google Scholar]
  18. Lamberti C., Kruse R., Ruelfs C., Caspari R., Wang Y., Jungck M., Mathiak M., Malayeri H. R., Friedl W., Sauerbruch T. Microsatellite instability-a useful diagnostic tool to select patients at high risk for hereditary non-polyposis colorectal cancer: a study in different groups of patients with colorectal cancer. Gut. 1999 Jun;44(6):839–843. doi: 10.1136/gut.44.6.839. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Liu L., Markowitz S., Gerson S. L. Mismatch repair mutations override alkyltransferase in conferring resistance to temozolomide but not to 1,3-bis(2-chloroethyl)nitrosourea. Cancer Res. 1996 Dec 1;56(23):5375–5379. [PubMed] [Google Scholar]
  20. Lothe R. A., Peltomäki P., Meling G. I., Aaltonen L. A., Nyström-Lahti M., Pylkkänen L., Heimdal K., Andersen T. I., Møller P., Rognum T. O. Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res. 1993 Dec 15;53(24):5849–5852. [PubMed] [Google Scholar]
  21. Nagao M., Wakabayashi K., Ushijima T., Toyota M., Totsuka Y., Sugimura T. Human exposure to carcinogenic heterocyclic amines and their mutational fingerprints in experimental animals. Environ Health Perspect. 1996 May;104 (Suppl 3):497–501. doi: 10.1289/ehp.96104s3497. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Peltomäki P., Lothe R. A., Aaltonen L. A., Pylkkänen L., Nyström-Lahti M., Seruca R., David L., Holm R., Ryberg D., Haugen A. Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res. 1993 Dec 15;53(24):5853–5855. [PubMed] [Google Scholar]
  23. Richards T. The genomic challenge. BMJ. 1999 Feb 6;318(7180):341–342. doi: 10.1136/bmj.318.7180.341. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Samowitz W. S., Slattery M. L., Kerber R. A. Microsatellite instability in human colonic cancer is not a useful clinical indicator of familial colorectal cancer. Gastroenterology. 1995 Dec;109(6):1765–1771. doi: 10.1016/0016-5085(95)90742-4. [DOI] [PubMed] [Google Scholar]
  25. Samowitz W. S., Slattery M. L. Microsatellite instability in colorectal adenomas. Gastroenterology. 1997 May;112(5):1515–1519. doi: 10.1016/s0016-5085(97)70032-5. [DOI] [PubMed] [Google Scholar]
  26. Sengupta S. B., Yiu C. Y., Boulos P. B., De Silva M., Sams V. R., Delhanty J. D. Genetic instability in patients with metachronous colorectal cancers. Br J Surg. 1997 Jul;84(7):996–1000. doi: 10.1002/bjs.1800840725. [DOI] [PubMed] [Google Scholar]
  27. Szathmáry E. Four letters in the genetic alphabet: a frozen evolutionary optimum? Proc Biol Sci. 1991 Aug 22;245(1313):91–99. doi: 10.1098/rspb.1991.0093. [DOI] [PubMed] [Google Scholar]
  28. Thibodeau S. N., French A. J., Cunningham J. M., Tester D., Burgart L. J., Roche P. C., McDonnell S. K., Schaid D. J., Vockley C. W., Michels V. V. Microsatellite instability in colorectal cancer: different mutator phenotypes and the principal involvement of hMLH1. Cancer Res. 1998 Apr 15;58(8):1713–1718. [PubMed] [Google Scholar]
  29. Thibodeau S. N., French A. J., Roche P. C., Cunningham J. M., Tester D. J., Lindor N. M., Moslein G., Baker S. M., Liskay R. M., Burgart L. J. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res. 1996 Nov 1;56(21):4836–4840. [PubMed] [Google Scholar]
  30. Thomas H. J. Genetic instability in colorectal cancer. Gut. 1998 Oct;43(4):450–451. doi: 10.1136/gut.43.4.450. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Tomlinson I. P., Hampson R., Karran P., Bodmer W. F. DNA mismatch repair in lymphoblastoid cells from hereditary non-polyposis colorectal cancer (HNPCC) patients is normal under conditions of rapid cell division and increased mutational load. Mutat Res. 1997 Mar 12;383(2):177–182. doi: 10.1016/s0921-8777(96)00058-4. [DOI] [PubMed] [Google Scholar]
  32. Tomlinson I. P., Novelli M. R., Bodmer W. F. The mutation rate and cancer. Proc Natl Acad Sci U S A. 1996 Dec 10;93(25):14800–14803. doi: 10.1073/pnas.93.25.14800. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. Tomlinson I., Bodmer W. Selection, the mutation rate and cancer: ensuring that the tail does not wag the dog. Nat Med. 1999 Jan;5(1):11–12. doi: 10.1038/4687. [DOI] [PubMed] [Google Scholar]
  34. Wu C. I., Maeda N. Inequality in mutation rates of the two strands of DNA. Nature. 1987 May 14;327(6118):169–170. doi: 10.1038/327169a0. [DOI] [PubMed] [Google Scholar]
  35. Zhou X. P., Hoang J. M., Li Y. J., Seruca R., Carneiro F., Sobrinho-Simoes M., Lothe R. A., Gleeson C. M., Russell S. E., Muzeau F. Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites. Genes Chromosomes Cancer. 1998 Feb;21(2):101–107. doi: 10.1002/(sici)1098-2264(199802)21:2<101::aid-gcc4>3.0.co;2-4. [DOI] [PubMed] [Google Scholar]
  36. de Leon M. P., Pedroni M., Benatti P., Percesepe A., Di Gregorio C., Foroni M., Rossi G., Genuardi M., Neri G., Leonardi F. Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis. Gut. 1999 Jul;45(1):32–38. doi: 10.1136/gut.45.1.32. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Gut are provided here courtesy of BMJ Publishing Group

RESOURCES