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Identification of l...
Identification of limited regions of genetic aberrations in patients affected with Wilms' tumor using a tiling-path chromosome 22 array
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- Benetkiewicz, Magdalena (författare)
- Uppsala universitet,Institutionen för genetik och patologi
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- de Ståhl, Teresita Díaz (författare)
- Uppsala universitet,Institutionen för genetik och patologi
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- Gördör, Anita (författare)
- Uppsala universitet,Institutionen för fysiologi och utvecklingsbiologi
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- Pfeifer, Susan (författare)
- Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnonkologisk forskning/Pfeifer
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Wittmann, Stefanie (författare)
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Gessler, Manfred (författare)
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- Dumanski, Jan P. (författare)
- Uppsala universitet,Institutionen för genetik och patologi
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(creator_code:org_t)
- Wiley, 2006
- 2006
- Engelska.
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Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136 .- 1097-0215. ; 119:3, s. 571-578
- Relaterad länk:
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https://www.onlineli...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Wilms' tumor (WT) is one of the most common solid tumors of childhood. The genetics of this disorder is complex and few studies have suggested allelic loss of chromosome 22 as a frequent aberration. To assess tumor- and possible germline-specific regions affected with gene copy number variations on this chromosome, we applied a high-resolution genomic clone-based chromosome 22 array to a series of 28 WT samples and the paired blood-derived DNA of the patients. The group of tumors was enriched for cases with metastases, relapse or fatal outcome, criteria that were expected to yield a higher number of alterations on chromosome 22. Overall, the array-based form of comparative genomic hybridization (array-CGH) analysis revealed genomic changes in 53% (15 out of 28) of cases. We identified hemizygous deletion of the whole arm of 22q in 3 tumors (11%). Furthermore, a complex amplifier genotype was detected in 8 samples, presenting regions of gain along the chromosome, which defined 7 distinct minimal overlapping segments. The distribution of aberrations in 4 additional cases displaying regional genomic imbalances delimited 2 tumor suppressor/oncogene candidate loci, 1 in the proximal and the other in the terminal part of 22q. Analysis of these regions revealed the presence of several candidate genes that may play a role in the development of WT. These findings demonstrate the power of array-CGH in the determination of DNA copy number alterations and further strength the notion that WT-associated genes exist on this chromosome.
Nyckelord
- Child
- Child; Preschool
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes; Human; Pair 22/*genetics
- DNA; Neoplasm/blood/genetics/isolation & purification
- Female
- Genome; Human
- Genotype
- Humans
- Infant
- Kidney Neoplasms/*genetics
- Male
- Monosomy
- Nucleic Acid Hybridization/*methods
- Wilms Tumor/*genetics
- MEDICINE
- MEDICIN
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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