2008
DOI: 10.1111/j.1464-410x.2008.07581.x
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Implications of mismatch repair genes hMLH1 and hMSH2 in patients with sporadic renal cell carcinoma

Abstract: investigated using the Hpa II and Msp I restriction enzymes. In addition, a sequencing analysis of complete coding region of h MLH1 and h MSH2 genes was performed . RESULTSMSI and promoter hypermethylation of h MLH1 were not detected. Interestingly, loss of heterozygosity (LOH) was common among patients with RCC, particularly in microsatellite D3S1611 (34.9%). Mutations were identified in eight patients: K618A and V716M in gene h MLH1 ; and I145V, G322D, and the novel mutation P349A, in gene h MSH2 . The mutat… Show more

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Cited by 20 publications
(16 citation statements)
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“…D2S123 and D2S119 surround hMSH2 and hMLH1, whereas D3S1611 is located within hMLH1. [28][29] Length changes in these microsatellites might serve as expressionregulating factors, affecting the activity of these genes.…”
Section: Discussionmentioning
confidence: 99%
“…D2S123 and D2S119 surround hMSH2 and hMLH1, whereas D3S1611 is located within hMLH1. [28][29] Length changes in these microsatellites might serve as expressionregulating factors, affecting the activity of these genes.…”
Section: Discussionmentioning
confidence: 99%
“…We used the NCI consensus panel, supplemented by BAT40, to detect mono-and dinucleotide MSI [9] . For assessment of EMAST, we chose eight microsatellite markers (Mycl1, D2S443, UT5037, D8S321, D8S348, D9S303, D20S82 and D21S1436) from the literature [21,[23][24][25] . Additionally, two tetranucleotide markers on chromosome 9 (D9S304, D9S747) were investigated to evaluate the frequency of loss of heterozygosity (LOH) on chomosome 9 as they showed high sensitivity in detecting EMAST in a recent bladder cancer study [26] .…”
Section: Microsatellite Analysismentioning
confidence: 99%
“…The fact that HNPCC patients occasionally develop RCC [10] incited several examinations of MSI and MMR deficiency in RCC tumors and cell lines [11][12][13][14][15][16][17][18][19][20][21][22] , with contradictory results. Studies were based on MSI and immunohistochemistry analyses as well as on characterization of the hypermethylation status of hMLH1 and hMSH2 including DNA sequencing of the complete coding region of the two genes, but only one recent investigation used the National Cancer Institute (NCI) consensus panel [21] . Moreover, there are no studies dealing with MSI status and MMR protein expression in the same specimens [11][12][13][14][15][16][17][18][19] , and merely one study on cell lines exists [20] .…”
Section: Introductionmentioning
confidence: 99%
“…Silencing hMLH1 has been detected in different tumors [17,32,39,[41][42][43][49][50][51]. However, hMLH1 promoter methylation was not detected in sporadic renal cell carcinoma (RCC) and multiple myeloma (MM) [52,53]. In this analysis, only unmethylated promoter sequences of hMLH1 were detectable in all the subjects.…”
Section: Acknowledgmentsmentioning
confidence: 76%