Report of the committee on chromosome rearrangements in neoplasia and on fragile sites

Berger, R; Cd, Bloomfield; Sutherland, Grant R.

doi:10.1159/000132181

Cited by 251 publications

(74 citation statements)

References 52 publications

(70 reference statements)

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“…Individuals with rare fragile sites (11q13, 12q13, 16q22) in PBL have been reported in the literature who had a breakpoint apparently coincident with a fragile site present in their cancer cells [21]. In our study, a relationship possibly existed between the most frequently observed chromosomal breakpoints and fragile sites, oncogenes, and tumor suppressor gene loci described in the literature [9][10][11] (Table 5).…”

Section: Discussionsupporting

confidence: 64%

See 1 more Smart Citation

Nonclonal Chromosomal Aberrations Induced by Anti-Tumoral Regimens in Childhood Cancer

Mesa

Sierrasesúmaga

Calasanz

et al. 2000

Cancer Genetics and Cytogenetics

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Cytogenetic studies were performed on 80 pediatric cancer patients to observe the chromosomal damage, both quantitative and qualitative, induced by chemotherapy. Peripheral blood lymphocytes (PBL) (n = 127) were obtained at diagnosis, during treatment, at remission, and at relapse, and chromosome analysis performed utilizing Gbanding standard procedures. The results show a significant increase in the number of altered karyotypes (P = 0.03) in the samples during treatment, returning to values that were similar to those at diagnosis at 2-year remission. Most of the chromosomal aberrations (CA) detected during the chemotherapy regimens were nonclonal, unbalanced (75%), and involved chromosomes 1, 3, 5, 6, 11, 12, 16, and 17 most frequently. There was also a marked increase of CA in samples at relapse with very similar features (type and distribution) to those detected during treatment. There was a good correlation between the chromosomal breakpoints in our series and fragile sites (58%), oncogene (75%), and tumor suppressor gene (33%) loci described in the literature. The results obtained suggest that cytostatic drugs induce a transient increase in chromosome fragility occurring at several cancer-associated breakpoints.

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Section: Discussionsupporting

confidence: 64%

“…A majority of mapped oncogenes are located at these breakpoints and some of them are known to be activated following chromosomal rearrangements. Fragile sites have also been implicated, because they mostly involve the same bands as cancer breakpoints or those near to oncogene and tumor suppressor gene loci [9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Nonclonal Chromosomal Aberrations Induced by Anti-Tumoral Regimens in Childhood Cancer

Mesa

Sierrasesúmaga

Calasanz

et al. 2000

Cancer Genetics and Cytogenetics

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“…The smallest region of frequent allele loss contains the two markers D7S522 and D7S649 in 7q31.1-31.2, a region that also contains FRA7G (Berger et al, 1985;Barbi et al, 1984), an aphidicolin-inducible fragile site. The biological signi®cance of at least some fragile sites is that they might predispose chromosomes to breakage which would then result in translocations, deletions, or even ampli®cations that could play a role in tumor development.…”

Section: Introductionmentioning

confidence: 99%

Loss of heterozygosity on the long arm of human chromosome 7 in sporadic renal cell carcinomas

et al. 1997

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Cytogenetic and molecular analysis of DNA sequences with highly polymorphic microsatellite markers have implicated allele loss in several chromosomal regions including 3p, 6p, 6q, 8p, 9p, 9q, 11p and 14q in the pathogenesis of sporadic renal cell carcinomas (RCCs). Deletions involving the long arm of chromosome 7 have not been described in RCCs although they have been seen in several other tumor types. However, there have been no detailed analysis of loss of heterozygosity (LOH) of 7q sequences in sporadic RCCs. We therefore studied LOH for DNA sequences on 7q with 10 highly polymorphic markers in 92 matched normal/tumor samples representing sporadic RCCs including papillary, nonpapillary, and oncocytomas in order to determine whether allelic loss could be detected in a tumor type with no visible 7q rearrangements at the cytogenetic level. We found chromosome 7q allele loss in 59 of 92 cases (64%) involving one, two, or more microsatellite markers. The most common allele loss included loci D7S522 (24%) and D7S649 (30%) at 7q31.1-31.2, a region that contains one of the common fragile sites, FRA7G. By comparative multiplex PCR analysis, we detected a homozygous deletion of one marker in the 7q 31.1-31.2 region in one tumor, RC21. These results support the idea that a tumor suppressor gene in 7q31 is involved in the pathogenesis of sporadic renal cell carcinomas.

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“…Since that time fragile sites continued as an active area of research in cytogenetics and their definition and classification was subject for several controversies with the increasing knowledge (3,4). Today FS are understood as specific loci that preferentially exhibit gaps and break on metaphase chromosomes following partial inhibition of DNA synthesis.…”

Section: Introductionmentioning

confidence: 99%

Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones

Weise¹

2010

Int J Oncol

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Abstract. Since the first description of human fragile sites (FS) more than 40 years ago, a variety of substances were reported to induce chromosomal breaks at non-random, breakage-prone regions. According to information available from human genome browsers aphidicolin, an inhibitor of DNA replication induces 77 of 88 known common FS. However, in the literature additional FS are reported, which are also, at least in part, inducible by aphidicolin. To the best of our knowledge, here we present the first and largest ever done systematic, whole genome-directed and comprehensive screening for aphidicolin-inducible breakage-prone regions. The study was performed on stimulated peripheral blood lymphocytes of 3 unrelated healthy individuals. Twenty-five thousand metaphase spreads were analyzed and overall 22,537 FS located in 230 different loci were recorded. Sixtyone of those FS were never observed before and 52 were already previously reported but not included in genome browsers and yet verified. Interestingly, aphidicolin was able to induce all types of rare and common FS, suggesting that these breakage-prone regions are less dependent on the inducing chemicals than originally supposed. Overall, we provide the first comprehensive genome wide map for FS and studied possible correlations of chromosome length and GTG-banding level with FS-frequency. To handle FS better in future, an extension of the already existing alphabetical nomenclature for FS on single chromosomes is suggested.

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Report of the committee on chromosome rearrangements in neoplasia and on fragile sites

Cited by 251 publications

References 52 publications

Nonclonal Chromosomal Aberrations Induced by Anti-Tumoral Regimens in Childhood Cancer

Nonclonal Chromosomal Aberrations Induced by Anti-Tumoral Regimens in Childhood Cancer

Loss of heterozygosity on the long arm of human chromosome 7 in sporadic renal cell carcinomas

Global screening and extended nomenclature for 230 aphidicolin-inducible fragile sites, including 61 yet unreported ones

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