Genetic instability of 3p12‐p21‐specific microsatellite sequences in renal cell carcinoma

Willers, Christoph; Siebert, Reiner; Bardenheuer, Walter; Lux, Andreas; Michaelis, S; Seeber, S.; Luboldt, Hans-Joachim; Opalka, Bertram; Schütte, J.

doi:10.1046/j.1464-410x.1996.09287.x

Cited by 18 publications

(20 citation statements)

References 3 publications

(4 reference statements)

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“…Structural alterations for the first chromosomal region have been reported in the literature [25, 26, 27] in RCC. This is the first report to our knowledge on the incidence of 17q21 locus deletions in RCC.…”

Section: Discussionmentioning

confidence: 99%

Genetic Instability in Renal Cell Carcinoma

et al. 1998

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Section: Discussionmentioning

confidence: 99%

Genetic Instability in Renal Cell Carcinoma

et al. 1998

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“…The familial form, associated with predisposition to an early-onset of multicentric RCC, was also characterised by balanced translocations t(3;8)(p21;q24) [33][34]. Loss of heterozygosity for the wnt-5a gene mapped to chromosome 3p14-21, was reported to affect the suppression of growth and repression of telomerase activity, and was described in nonpapillary RCC [35].…”

Section: Genomic Aspects Of Renal Cell Carcinomamentioning

confidence: 99%

Contribution of proteomics to the molecular analysis of renal cell carcinoma with an emphasis on manganese superoxide dismutase

et al. 2001

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Renal cell carcinoma (RCC) originates in the renal cortex. It accounts for 2-3 percent of all cancers occurring in adults and it is characterised by lack of early clinical manifestations, unpredictable outcome, and absence of effective treatment modalities except early surgery. RCC comprises a heterogeneous group of tumours with various molecular and cytogenetic abnormalities and different histological features as cell types and tumour architecture. Molecular genetic and proteomic tools led to the discovery of potential diagnostic prognostic and therapeutic biomarkers of RCC. In this review we discuss recent developments in understanding genotype-phenotype relationships, with attention to manganese superoxide dismutase, a mitochondrial enzyme related to the redox cycle which affects various regulatory functions of cells. The expression of this protein has been evaluated in numerous human tumour types including RCC, and post-translational modifications are being investigated.

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“…MSI analysis has previously been used: i) to determine the genetic alterations involved in different renal tumor histotypes (19,28), ii) to study the possible inactivation of one or more tumor suppressor genes in renal cancer samples (25), and iii) to investigate the clonal origin of multifocal renal cell carcinomas (21,22).…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies have demonstrated alterations in MMR genes [such as the human mutL homolog 1 (hMLH1) and the human mutS homolog 2 (hMSH2)] and the presence of MSI in human cancers, as well as in renal tumors (13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31). However, data on the incidence of MSI in renal cortical cancers is conflicting and the role of the MMR genes in these malignancies is still largely unknown.…”

Section: Introductionmentioning

confidence: 99%

Microsatellite instability and hMLH1 and hMSH2 expression in renal tumors

Altavilla

Fassan²,

Busatto³

et al. 2010

Oncol Rep

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Abstract. Defects in the function of mismatch repair (MMR) genes result in genetic instability, a common feature of malignant progression. This study was conducted to determine the frequency of genetic instability [defined as microsatellite instability (MSI)] and to evaluate the sensitivity/specificity of immunohistochemistry in predicting the deficiency in MMR genes in renal cortical tumors. A total of 51 surgically-resected renal tumors (27 clear cell, 10 papillary, 5 chromophobe carcinomas and 9 oncocytomas) were studied. We also analyzed the correlation with clinicopathological parameters, the MSI status (assessed by using 5 microsatellite markers: D2S123, D11S904, D3S1621, D3S1683 and BAT26), and the immunohistochemical expression of 2 major MMR genes [the human mutL homolog 1 (hMLH1) and the human mutS homolog 2 (hMSH2)]. Sixteen cases (31.4%) showed MSI: Three (5.9%) demonstrated a high level of MSI, 11 (21.6%) demonstrated a low level of MSI, 2 (3.9%) presented with a loss of heterozygosity, and the remaining 35 (68.6%) exhibited microsatellite stability. The loss of hMLH1 and hMSH2 immunohistochemical expressions was observed in 5/51 (9.8%) and 9/51 (17.6%) cases, respectively. The complete absence of both hMLH1 and hMSH2 immunohistochemical expressions was observed only in the 3 cases with a high level of MSI. This study showed that defects in MMR genes are involved in renal carcinogenesis and correlate with the occurrence of MSI.

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Genetic instability of 3p12‐p21‐specific microsatellite sequences in renal cell carcinoma

Abstract: These results suggest that human chromosome region 3p14.3 distal to the hereditary t(3;8) translocation breakpoint and the region deleted in the U2020 lung cancer cell line might be involved in the tumorigenesis or progression of clear cell RCC.

Cited by 18 publications

References 3 publications

Genetic Instability in Renal Cell Carcinoma

Genetic Instability in Renal Cell Carcinoma

Contribution of proteomics to the molecular analysis of renal cell carcinoma with an emphasis on manganese superoxide dismutase

Microsatellite instability and hMLH1 and hMSH2 expression in renal tumors

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