Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22

Foster, Keith; Crossey, Paul A.; Cairns, Paul; Hetherington, J. W.; Richards, Frances M.; Jones, Michael H.; Bentley, Elizabeth; Affara, Nabeel A.; Ferguson‐Smith, M. A.; Maher, ER

doi:10.1038/bjc.1994.44

Cited by 99 publications

(61 citation statements)

References 24 publications

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“…Interstitial deletion of chromosome 3p is one of the most common genetic rearrangements observed in tumour cells (Pandis et al, 1993). The region 3p14Ðp23 has been shown to be deleted in small-cell lung carcinomas (Petersen et al, 1997), non-small-cell lung carcinomas (Benachenhou et al, 1998b) renal cell carcinomas (Foster et al, 1994) and uterine cervical carcinomas (Kohno et al, 1993). In breast cancer, LOH ranging from 30% to 47% were observed at two separate regions, 3p13Ðp14 and 3p21Ðp25 (Chen et al, 1994) or 3p14.3Ðp21.1 and 3p24.3Ðp25.1 (Matsumoto et al, 1997), suggesting the involvement of several tumour-suppressor genes.…”

Section: Discussionmentioning

confidence: 99%

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer

et al. 1999

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SummaryTo study the involvement of DNA mismatch-repair genes in sporadic breast cancer, matched normal and tumoral DNA samples of 22 patients were analysed for genetic instability and loss of heterozygosity (LOH) with 42 microsatellites at or linked to hMLH1 (3p21), hMSH2 (2p16), hMSH3 (5q11-q13), hMSH6 (2p16), hPMS1 (2q32) and hPMS2 (7p22) loci. Chromosomal regions 3p21 and 5q11-q13 were found hemizygously deleted in 46% and 23% of patients respectively. Half of the patients deleted at hMLH1 were also deleted at hMSH3. The shortest regions of overlapping (SRO) deletions were delimited by markers D3S1298 and D3S1266 at 3p21 and by D5S647 and D5S418 at 5q11-q13. Currently, the genes hMLH1 (3p21) and hMSH3 (5q11-q13) are the only known candidates located within these regions. The consequence of these allelic losses is still unclear because none of the breast cancers examined displayed microsatellite instability, a hallmark of mismatch-repair defect during replication error correction. We suggest that hMLH1 and hMSH3 could be involved in breast tumorigenesis through cellular functions other than replication error correction.

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Section: Discussionmentioning

confidence: 99%

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer

et al. 1999

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“…LOH at chromosome 5q22 has been described in 33% of renal cell tumours analysed by Southern hybridization (Morita et al, 1991). Applying microsatellites for allelotyping of nonpapillary RCCs, Foster et al (1994), Crossey et al (1994) and Trash-Bingham et al (1995) found LOH at chromosome 5q each in one out of 35, nine and 19 nonpapillary RCCs, respectively. Chromosome 5q21-22 region in involved in genetic changes of other types of cancer as well.…”

Section: Discussionmentioning

confidence: 99%

Duplication of an approximately 1.5 Mb DNA segment at chromosome 5q22 indicates the locus of a new tumour gene in nonpapillary renal cell carcinomas

et al. 1997

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Previous karyotyping showed an unbalanced translocation between chromosome 3p11.2-p13 and chromosome 5q22 leading to duplication of chromosome 5q22-qter region in nonpapillary renal cell carcinomas. In order to determine the breakpoint at chromosome 5q22 at the molecular level, we have investigated 50 sporadic nonpapillary renal cell carcinomas from consecutive nephrectomies and 24 renal cell carcinomas obtained from two patients with von Hippel ± Lindau disease. We used seven DNA markers mapped to and around the APC and MCC genes to detect allelic imbalance. We observed a duplication of chromosome 5q sequences in 11 of 23 informative sporadic tumours and in 18 of 24 hereditary tumours. We determined a breakpoint cluster between the APC and MCC genes at chromosome 5q22. In addition we have found a partial duplication of the smallest overlapping region of about 1.5 Mb sequences including the MCC gene in seven tumours without visible alteration of chromosome 5q in the karyotype. We suggest that this DNA segment harbours a gene or gene cluster, the altered dosage of which is important for the growth of nonpapillary renal cell carcinomas.

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“…It has been suggested that these FARs carry one or several tumor suppressor genes (TSG) that contribute to the genesis of RCC when deleted (Latif et al, 1993;Van der Hout et al, 1991;Yamakawa et al, 1991;Bergerheim et al, 1989;Kovacs et al, 1988). Dierent studies de®ned dierent FARs in the short arm of chromosome 3, in 3p12 (Lubinski et al, 1994), in 3p13-p14 (Yamakawa et al, 1991;Lubinski et al, 1994), in 3p21 ( Van der Hout et al, 1991;Yamakawa et al, 1991), and in 3p25-pter (Foster et al, 1994), respectively. A recent analysis of sporadic RCCs has shown that 3p deletions most frequently (in 33 out of 44 analysed cases) included the 3p21 region between D3S643 and D3S1235 (Van den Berg et al, 1996a), i.e.…”

Section: Introductionmentioning

confidence: 99%

Combined LOH/CGH analysis proves the existence of interstitial 3p deletions in renal cell carcinoma

et al. 2000

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We have recently developed an allele titration assay (ATA) to assess the sensitivity and in¯uence of normal cell admixture in loss of heterozygosity (LOH) studies based on CA-repeat. The assay showed that these studies are biased by the size-dependent dierential sensitivity of allele detection. Based on these data, we have set up new criteria for evaluation of LOH. By combining these new rules with comparative genome hybridization (CGH) we have shown the presence of interstitial deletions in renal cell carcinoma (RCC) biopsies and cell lines. At least three out of 11 analysed RCC cell lines and three out of 37 biopsies contain interstitial deletions on chromosome 3. Our study suggests the presence of several regions on human chromosome 3 that might contribute to tumor development by their loss: (i) 3p25-p26, around the VHL gene (D3S1317); (ii) 3p21.3-p22 (between D3S1260 and D3S1611); (iii) 3p21.2 (around D3S1235 and D3S1289); (iv) 3p13-p14 (around D3S1312 and D3S1285). For the ®rst time, AP20 region (3p21.3-p22) was carefully tested for LOH in RCC. It was found that the AP20 region is the most frequently aected area. Our data also suggest that another tumor suppressor gene is located near the VHL gene in 3p25-p26.

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Molecular genetic investigation of sporadic renal cell carcinoma: analysis of allele loss on chromosomes 3p, 5q, 11p, 17 and 22

Cited by 99 publications

References 24 publications

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer

Frequent loss of heterozygosity at the DNA mismatch-repair loci hMLH1 and hMSH3 in sporadic breast cancer

Duplication of an approximately 1.5 Mb DNA segment at chromosome 5q22 indicates the locus of a new tumour gene in nonpapillary renal cell carcinomas

Combined LOH/CGH analysis proves the existence of interstitial 3p deletions in renal cell carcinoma

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