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Minisatellite instability is found in colorectal tumours with mismatch repair deficiency.
Br J Cancer. 2001 Nov 16; 85(10):1486-91.BJ

Abstract

Microsatellite instability (MSI) in colorectal tumours is demonstrated by PCR amplification of several different microsatellite loci. Minisatellites, which are repeats of longer sequences also found throughout the genome, may also be affected by tumorigenesis. Certain minisatellite alleles contain 2 types of similar repeat unit that are randomly interspersed. The interspersion pattern can be analysed by mapping variant repeat units along an amplified allele, minisatellite variant repeat unit mapping PCR (MVR-PCR). We have applied microsatellite analysis with 10 markers and MVR-PCR for locus D7S21 to 33 cases of colorectal neoplasia, 27 sporadic and 6 from patients suspected of having hereditary non-polyposis colorectal cancer (HNPCC). Of the 27 sporadic cases, 3 were MSI-high on microsatellite analysis and one MSI-low. Instability with MVR-PCR was observed, but only in the MSI-high cases. Four of the HNPCC patients had mismatch repair (MMR) gene mutations in either hMLH1 or hMSH2. All 4 had DNA instability by MVR-PCR, but only two of these had MSI (one high, one low). The other 2 of the 6 patients with suspected HNPCC were negative to mutation analysis. One had features strongly suggestive of HNPCC and was unstable by both microsatellite analysis (MSI-high) and by MVR-PCR. The other tumour, from an Amsterdam criteria positive kindred, did not demonstrate instability by any technique. Thus MVR-PCR detects DNA instability in MSI-high sporadic tumours and in those associated with HNPCC where MSI is observed. Further, in some MMR mutation positive cases MSI was not seen but instability was observed by MVR-PCR. MVR-PCR may be a valuable adjunct to the detection of MMR deficiency in colorectal tumours and it may allow new insights into the nature of DNA instability in this condition.

Authors+Show Affiliations

University Department of Surgery, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Evaluation Study
Journal Article

Language

eng

PubMed ID

11720433

Citation

Coleman, M G., et al. "Minisatellite Instability Is Found in Colorectal Tumours With Mismatch Repair Deficiency." British Journal of Cancer, vol. 85, no. 10, 2001, pp. 1486-91.
Coleman MG, Gough AC, Bunyan DJ, et al. Minisatellite instability is found in colorectal tumours with mismatch repair deficiency. Br J Cancer. 2001;85(10):1486-91.
Coleman, M. G., Gough, A. C., Bunyan, D. J., Braham, D., Eccles, D. M., & Primrose, J. N. (2001). Minisatellite instability is found in colorectal tumours with mismatch repair deficiency. British Journal of Cancer, 85(10), 1486-91.
Coleman MG, et al. Minisatellite Instability Is Found in Colorectal Tumours With Mismatch Repair Deficiency. Br J Cancer. 2001 Nov 16;85(10):1486-91. PubMed PMID: 11720433.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Minisatellite instability is found in colorectal tumours with mismatch repair deficiency. AU - Coleman,M G, AU - Gough,A C, AU - Bunyan,D J, AU - Braham,D, AU - Eccles,D M, AU - Primrose,J N, PY - 2001/11/27/pubmed PY - 2002/2/15/medline PY - 2001/11/27/entrez SP - 1486 EP - 91 JF - British journal of cancer JO - Br. J. Cancer VL - 85 IS - 10 N2 - Microsatellite instability (MSI) in colorectal tumours is demonstrated by PCR amplification of several different microsatellite loci. Minisatellites, which are repeats of longer sequences also found throughout the genome, may also be affected by tumorigenesis. Certain minisatellite alleles contain 2 types of similar repeat unit that are randomly interspersed. The interspersion pattern can be analysed by mapping variant repeat units along an amplified allele, minisatellite variant repeat unit mapping PCR (MVR-PCR). We have applied microsatellite analysis with 10 markers and MVR-PCR for locus D7S21 to 33 cases of colorectal neoplasia, 27 sporadic and 6 from patients suspected of having hereditary non-polyposis colorectal cancer (HNPCC). Of the 27 sporadic cases, 3 were MSI-high on microsatellite analysis and one MSI-low. Instability with MVR-PCR was observed, but only in the MSI-high cases. Four of the HNPCC patients had mismatch repair (MMR) gene mutations in either hMLH1 or hMSH2. All 4 had DNA instability by MVR-PCR, but only two of these had MSI (one high, one low). The other 2 of the 6 patients with suspected HNPCC were negative to mutation analysis. One had features strongly suggestive of HNPCC and was unstable by both microsatellite analysis (MSI-high) and by MVR-PCR. The other tumour, from an Amsterdam criteria positive kindred, did not demonstrate instability by any technique. Thus MVR-PCR detects DNA instability in MSI-high sporadic tumours and in those associated with HNPCC where MSI is observed. Further, in some MMR mutation positive cases MSI was not seen but instability was observed by MVR-PCR. MVR-PCR may be a valuable adjunct to the detection of MMR deficiency in colorectal tumours and it may allow new insights into the nature of DNA instability in this condition. SN - 0007-0920 UR - https://www.unboundmedicine.com/medline/citation/11720433/Minisatellite_instability_is_found_in_colorectal_tumours_with_mismatch_repair_deficiency_ L2 - http://dx.doi.org/10.1054/bjoc.2001.2058 DB - PRIME DP - Unbound Medicine ER -