Mechanism of i(6p) formation in retinoblastoma tumor cells☆
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Cited by (27)
Novel 6p rearrangements and recurrent translocation breakpoints in retinoblastoma cell lines identified by spectral karyotyping and mBAND analyses
2007, Cancer Genetics and CytogeneticsCitation Excerpt :Increase in the copy number of chromosomal arm 6p is a frequent event in retinoblastoma, and isochromosome 6p is considered to be a hallmark of retinoblastoma [20,23,24]. By examining the relative dosage of polymorphic 6p and 6q alleles in retinoblastoma tumors with i(6p), Horsthemke et al. [25] showed that mitotic nondisjunction leading to trisomy 6p precedes isochromosome 6p formation, as suggested by Squire et al. [20], and that the transverse division of the centromere or intrachromosomal chromatid exchange are the most likely mechanisms behind the subsequent i(6p) formation. Most retinoblastoma tumors with 6p gain are tetrasomic for all 6p genes, but trisomic tumors with no i(6p) were also identified in the study by Squire et al., leading the authors to suggest that an increase in dosage of 6p genes, and not isochromosome formation per se, was the critical event in tumor development [20].
6p abnormalities and TNF-α over-expression in retinoblastoma cell line
2001, Cancer Genetics and CytogeneticsMinimal regions of chromosomal imbalance in retinoblastoma detected by comparative genomic hybridization
2001, Cancer Genetics and CytogeneticsEngraftment and growth of patient-derived retinoblastoma tumour in severe combined immunodeficiency mice
2000, European Journal of CancerCitation Excerpt :In another five samples that grew relatively slowly in the mice, two (Rb7p1 and 8p1) had trisomy 1q, one (Rb23p1) had trisomy 1, and one (Rb13p1) had +i(1)(q10) and i(6)(p10). These findings may support the hypothesis that increased gene dosage on 6p and 1q or loss of genes from 6q and 1p may lead to a tumour growth advantage and progression [17–21]. Although the exact nature of genes located at these chromosome sites is not known as yet, some of these regions are non-randomly involved in rearrangements in a variety of tumour types both lympho-haematopoietic and solid tumours indicating that the genes located at these sites may be involved in tumour progression and, therefore, may not be specific to retinoblastoma.
Retinoblastoma: The disease, gene and protein provide critical leads to understand cancer
2000, Seminars in Cancer BiologySpecific chromosomal aberrations and amplification of the AIB1 nuclear receptor coactivator gene in pancreatic carcinomas
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Part of this work was supported by research grants from the Deutsche Forschungsgemeinschaft and Fonds der Chemischen Industrie.