ArticleBritish journal of cancer2002
Analyses of apoptotic regulators CASP9 and DFFA at 1P36.2, reveal rare allele variants in human neuroblastoma tumours.
Article in British journal of cancer, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 39 citations in OpenAlex.
- Integrated Molecular and Functional Characterization of Cervical Small-Cell Neuroendocrine Carcinoma Using a 3D Organoid Model.International journal of molecular sciences · 2026Article
- The role of the DFF40/CAD endonuclease in genomic stability.Apoptosis : an international journal on programmed cell death · 2021Review
- Influence of survivin (BIRC5) and caspase-9 (CASP9) functional polymorphisms in renal cell carcinoma development: a study in a southern European population.Molecular biology reports · 2013Article
- Leucine to proline substitution by SNP at position 197 in Caspase-9 gene expression leads to neuroblastoma: a bioinformatics analysis.3 Biotech · 2013Article
- Article
- The enigmatic roles of caspases in tumor development.Cancers · 2010Article
- MiR-145, a new regulator of the DNA fragmentation factor-45 (DFF45)-mediated apoptotic network.Molecular cancer · 2010Article
- Identification and characterization of the human inhibitor of caspase-activated DNase gene promoter.Apoptosis : an international journal on programmed cell death · 2008Article
- Genetic and epigenetic changes in the common 1p36 deletion in neuroblastoma tumours.British journal of cancer · 2007Article
- Apoptotic DNA fragmentation factor maintains chromosome stability in a P53-independent manner.Oncogene · 2006Article
- A unique role of the DNA fragmentation factor in maintaining genomic stability.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Introduction of in vitro transcribed ENO1 mRNA into neuroblastoma cells induces cell death.BMC cancer · 2005Article
- Definition and characterization of a region of 1p36.3 consistently deleted in neuroblastoma.Oncogene · 2005Article
- A cluster of genes located in 1p36 are down-regulated in neuroblastomas with poor prognosis, but not due to CpG island methylation.Molecular cancer · 2005Article
- Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.British journal of cancer · 2004Article
- A novel 1p36.2 located gene, APITD1, with tumour-suppressive properties and a putative p53-binding domain, shows low expression in neuroblastoma tumours.British journal of cancer · 2004Article
- Article
- Genetics of congenital solid tumors.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologieArticle
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genes encoding Caspase-9 and DFF45 have both recently been mapped to chromosome region 1p36.2, that is a region alleged to involve one or several tumour suppressor genes in neuroblastoma tumours. This study presents an update contig of the 'Smallest Region of Overlap of deletions' in Scandinavian neuroblastoma tumours and suggests that DFF45 is localized in the region. The genomic organization of the human DFF45 gene, deduced by in-silico comparisons of DNA sequences, is described for the first time in this paper. In the present study 44 primary tumours were screened for mutation by analysis of the genomic sequences of the genes. In two out of the 44 tumours this detected in the DFFA gene one rare allele variant that caused a non-polar to a polar amino acid exchange in a preserved hydrophobic patch of DFF45. One case was hemizygous due to deletion of the more common allele of this polymorphism. Out of 194 normal control alleles only one was found to carry this variant allele, so in respect of it, no healthy control individual out of 97 was homozygous. Moreover, our RT-PCR expression studies showed that DFF45 is preferably expressed in low-stage neuroblastoma tumours and to a lesser degree in high-stage neuroblastomas. We conclude that although coding mutations of Caspase-9 and DFF45 are infrequent in neuroblastoma tumours, our discovery of a rare allele in two neuroblastoma cases should be taken to warrant further studies of the role of DFF45 in neuroblastoma genetics.
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