Detection of Microsatellite Instability in Colorectal Cancer Using an Alternative Multiplex Assay of Quasi-Monomorphic Mononucleotide Markers

Deschoolmeester, Vanessa; Baay, Marc; Wuyts, Wim; Marck, Eric Van; Damme, Nancy Van; Vermeulen, Peter; Łukaszuk, Krzysztof; Lardon, Filip; Vermorken, Jan B.

doi:10.2353/jmoldx.2008.070087

Cited by 39 publications

(34 citation statements)

References 22 publications

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“…Genomic instability clearly existed in the NTD samples, suggesting a defect in MMR function. Importantly, Bat25, Bat26, and Bat34C4 are located within intron-16 of the c-kit oncogene, intron-5 of the hMSH2, and the 3¢-untranslated region of exon-11 of P53, [26][27] respectively. D2S123 and D2S119 surround hMSH2 and hMLH1, whereas D3S1611 is located within hMLH1.…”

Section: Discussionmentioning

confidence: 99%

Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects

Liu

Wang

et al. 2012

Eur J Hum Genet

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We studied the genomic instability and methylation status of the mismatch-repair (MMR) genes hMLH1 and hMSH2, and the imprinted genes H19/IGF2, in fetuses with neural tube defects (NTDs) to explore the pathogenesis of the disease. Microsatellite instability (MSI) was observed in 23 of 50 NTD patients. Five NTD patients showed high-degree MSI (MSI-H) and 18 showed low-degree MSI (MSI-L). The frequencies of mutated microsatellite loci were 3/50 (6%) for BatT-25, 10/50 (20%) for Bat-26, 3/50 (6%) for Bat34C4, 6/50 (12%) for D2S123, 4/50 (8%) for D2S119, and 3/50 (6%) for D3S1611. The promoter regions of the hMLH1 and hMSH2 genes were unmethylated in NTD patients, as determined by methylation-specific PCR. The hMLH1 and hMSH2 promoter methylation patterns, the methylation levels of H19 DMR1, and IGF2 DMR0 were detected by bisulfite sequencing PCR, sub-cloning, and sequencing. The hMSH2 promoter sequence was unmethylated, and the hMLH1 promoter showed a specific methylation pattern at two CpG sites. The methylation levels of H19 DMR1 in the NTD and control groups are 73.3% ± 15.9 and 58.3% ± 11.2, respectively. The methylation level of the NTD group was higher than that of the control group (Student's t-test, Po0.05). There is no significant difference in IGF2 DMR0 methylation level between the two groups. All of the results presented here suggest that genomic instability, the MMR system, and hyper-methylation of the H19 DMR1 may be correlated with the occurrence of NTDs.

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Section: Discussionmentioning

confidence: 99%

Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects

Liu

Wang

et al. 2012

Eur J Hum Genet

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“…Some authors have suggested using CAT25 in combination with BAT25 and BAT26 mononucleotide microsatellites. 14,21 The aim of this study was the characterization of the CAT25 mononucleotide marker and evaluation of its sensitivity and specificity in comparison with NCI Bethesda panel in colon cancer patients. The CAT25 allelic profile study, conducted in 100 healthy donor subjects, showed a (quasi) monomorphic allele pattern.…”

Section: Discussionmentioning

confidence: 99%

CAT25 Is a Mononucleotide Marker to Identify HNPCC Patients

Bianchi

Galizia

Catalani

et al. 2009

The Journal of Molecular Diagnostics

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Mismatch repair mutations are the cause of generalized genomic instability and are particularly evident at microsatellite loci , which is known as microsatellite instability (MSI). MSI is present in 85% to 90% of colorectal cancers and occurs in hereditary non-polyposis colorectal cancer (HNPCC). The National Cancer Institute recommends the "Bethesda panel" for MSI screening. Recently , a novel T 25 mononucleotide marker was described , termed CAT25. This microsatellite marker displays a quasi-monomorphic pattern in normal tissues. The aim of our study was to evaluate the performance of CAT25 in HNPCC patients and to compare its reliability with the results of the Bethesda panel. We tested 55 tumor tissues from HNPCC patients using both the Bethesda panel and the CAT25 mononucleotide marker. One hundred healthy blood donors were used as controls. The CAT25 microsatellite was found to be altered in all 13 colorectal cancers classified as MSI-H using the standard Bethesda panel. Colorectal tumors that showed a stable Bethesda pattern did not show altered CAT25 repeats. Additionally , CAT25 showed a monomorphic allele pattern in all tissue samples. In our series , the concordance between the Bethesda panel and CAT25 in identifying colorectal cancers with high MSI reached 100%. Our results suggest that the CAT25 microsatellite represents a sensitive and specific marker for MSI and could be , at least , included in the panel of markers for the identification of HNPCC patients. The inactivation of the mismatch repair system results in the accumulation of DNA replication errors, which participate in tumor development by affecting genes regulating critical cell functions. 1 HNPCC patients are prone to develop colorectal cancers and several other malignancies, (endometrium, ovaries, stomach, small bowel, hepatobiliary, and urinary tract).3-6 HNPCC related colon cancers show a typical phenotype: tumors are frequently located in the right colon and show mucinous or medullar histology, lymphoid infiltrates, negative MLH1 or MSH2 protein expression, and microsatellite instability (MSI). Microsatellite instability is due to the accumulation of replication errors and is observed in more then 80% of HNPCC patients.

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“…This method has substantial limitations, however, because of the inclusion of less sensitive and less specific dinucleotide markers (6,7 ). The current standard approach of MSI analysis is relatively time-consuming, laborious, and expensive, because allelic profiles between tumor and matching germlineand normal-tissue DNA must be compared (6,8 ). Recently the exclusive use of traditional (BAT25 and BAT26) and/or novel (CAT25, SEC63, NR-21, NR-22, NR-24, and NR-27) monomorphic mononucleotide repeat markers in various combinations has been successfully applied by some groups (6, 8 -13 ).…”

confidence: 99%

Microsatellite Instability Detection by High-Resolution Melting Analysis

et al. 2010

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BACKGROUND:Microsatellite instability (MSI) is an important marker for screening for hereditary nonpolyposis colorectal cancer (Lynch syndrome) as well as a prognostic and predictive marker for sporadic colorectal cancer (CRC). The mononucleotide microsatellite marker panel is a well-established and superior alternative to the traditional Bethesda MSI analysis panel, and does not require testing for corresponding normal DNA. The most common MSI detection techniques-fluorescent capillary electrophoresis and denaturing HPLC (DHPLC)-both have advantages and drawbacks. A new high-resolution melting (HRM) analysis method enables rapid identification of heteroduplexes in amplicons by their lower thermal stability, a technique that overcomes the main shortcomings of capillary electrophoresis and DHPLC.

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Detection of Microsatellite Instability in Colorectal Cancer Using an Alternative Multiplex Assay of Quasi-Monomorphic Mononucleotide Markers

Cited by 39 publications

References 22 publications

Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects

Association of genomic instability, and the methylation status of imprinted genes and mismatch-repair genes, with neural tube defects

CAT25 Is a Mononucleotide Marker to Identify HNPCC Patients

Microsatellite Instability Detection by High-Resolution Melting Analysis

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