Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2
| Autor: | N.C. Oskam, A. M. W. Van Den Ouweland, C.C. Tijssen, M.A.J.A. Hermsen, Andries Westerveld, Theo J. M. Hulsebos, Engelien H. Bijleveld, Ben C.J. Hamel |
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| Přispěvatelé: | Other departments, VU University medical center, Molecular Genetics, Clinical Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 1999 |
| Předmět: |
Ependymoma
Cancer Research medicine.medical_specialty Monosomy ependymoma Tumor suppressor gene Chromosomes Human Pair 22 Aneuploidy Biology Loss of heterozygosity Central Nervous System Neoplasms Chromosome regions Chromosome Segregation medicine Humans Genes Tumor Suppressor Genetic Predisposition to Disease Genetics Cytogenetics Nucleic Acid Hybridization Regular Article medicine.disease tumour suppressor gene Pedigree chromosome 22 Oncology Cytogenetic Analysis familial clustering Chromosome 22 |
| Zdroj: | British journal of cancer, 81(7), 1150-1154. Nature Publishing Group British Journal of Cancer British Journal of Cancer, 81, 1150-1154. Nature Publishing Group Hulsebos, T J M, Oskam, N C, Bijleveld, E H, Westerveld, A, Hermsen, M A J A, van den Ouweland, A M W, Hamel, B C & Tijssen, C C 1999, ' Evidence for a ependymoma tumour suppressor gene in chromosome region 22pter-22q11.2. ', British Journal of Cancer, vol. 81, pp. 1150-1154 . https://doi.org/10.1038/sj.bjc.6690822 British Journal of Cancer, 81(7), 1150-1154. Nature Publishing Group |
| ISSN: | 0007-0920 |
| DOI: | 10.1038/sj.bjc.6690822 |
| Popis: | Ependymomas are glial tumours of the brain and spinal cord. The most frequent genetic change in sporadic ependymoma is monosomy 22, suggesting the presence of an ependymoma tumour suppressor gene on that chromosome. Clustering of ependymomas has been reported to occur in some families. From an earlier study in a family in which four cousins developed an ependymoma, we concluded that an ependymoma-susceptibility gene, which is not the NF2 gene in 22q12, might be located on chromosome 22. To localize that gene, we performed a segregation analysis with chromosome 22 markers in this family. This analysis revealed that the susceptibility gene may be located proximal to marker D22S941 in 22pter–22q11.2. Comparative genomic hybridization showed that monosomy 22 was the sole detectable genetic aberration in the tumour of one of the patients. Loss of heterozygosity studies in that tumour revealed that, in accordance to Knudson’s two-hit theory of tumorigenesis, the lost chromosome 22 originated from the parent presumed to have contributed the wild-type allele of the susceptibility gene. Thus, our segregation and tumour studies collectively indicate that an ependymoma tumour suppressor gene may be present in region 22pter–22q11.2. © 1999 Cancer Research Campaign |
| Databáze: | OpenAIRE |
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