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Showing 10 out of a total of 60 results for community: Atlas of Genetics and Cytogenetics in Oncology and Haematology. (0.008 seconds)
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(ARMGHM - Atlas Génétique des Cancers, 2019)Glioma is the most common brain tumor, characterized by several histological and malignancy grade. The majority of gliomas are sporadic, but some familial cases have been reported (< 5%). Despite hereditary predisposition to gliomas has been associated to rare inherited cancer syndromes, such as Li-Fraumeni and Turcot's syndromes, neurofibromatosis and tuberous sclerosis, not all familial gliomas can be explained by these syndromes. Most familial gliomas seem to be characterized by cluster of two cases, suggesting the involvment of low penetrance factor risks. Moreover, no sex-linked disorders or SNPs on the X chromosome have been associated with increased glioma risk, except for ATRX gene, whose loss-of-function has been observed in 20 % of adult oligodendrogliomas and in 80 % of grade 2 and 3 astrocytomas. Finally, the risk to inherit tumors such as glioma could also be related to combinations of multiple risk variants: besides GWAS analysis identified many SNPs involved in familial gliomas at 5p15.33 (TERT), 7p11.2 (EGFR), 8q24.21 (CCDC26), 9p21.3 (CDKN2A/CDKN2B), 11q23.3 (PHLDB1) and 20q13.33 (RTEL1), mutatio could be associated with the risk of glioma ns in POT1 gene and rare variants in SPAG9 and RUNDC1 genes could be associated with the risk of glioma....
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(ARMGHM - Atlas Génétique des Cancers, 2019)Structural abnormalities involving sex chromosomes are uncommon in hematological malignancies. The unbalanced translocation between the long arm of chromosomes 1 and Y results in a partial trisomy of the 1q region and has been described mainly in chronic myeloproliferative disorders....
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(ARMGHM - Atlas Génétique des Cancers, 2019)Review on PIK3CA, with data on DNA, on the protein encoded, and where the gene is implicated....
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(ARMGHM - Atlas Génétique des Cancers, 2019)Mammalian glutaminases are encoded by two paralogous genes, Gls and Gls2, presumably derived by gene duplication of a common ancestor. Each gene codes for two different isoforms. The two transcripts of Gls2, named GAB and LGA, arise through a surrogate promoter usage mechanism. In certain types of malignancies, such as glioblastoma and liver cancers, expression of GLS2 gene is repressed by promoter hypermethylation, which could contribute to the malignant process. The finding that ectopic expression of GLS2 could inhibit proliferation of these tumors led to the hypothesis that this isoenzyme, a transcriptional target of TP53, might play a role as tumor suppressor, in opposition to GLS, regulated by oncogenes and associated to tumorigenesis. However, recent findings indicate that GLS2 is upregulated in some types of cancer (NMYC-amplified neuroblastoma, cervical, colon and lung cancers) and this upregulation paradoxically correlates with poor clinical outcomes....
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(ARMGHM - Atlas Génétique des Cancers, 2019)Protein kinase AMP-activated catalytic subunit alpha 1 (PRKAA1), also known as AMPK α1, is an energy sensor that plays a key role in the regulation of cellular energy metabolism. AMPK α1 is the catalytic subunit of the heterotrimeric AMPK protein with a length of 548 amino acids. A key switch to activate this protein is an alteration in the AMP/ATP ratio. The protein is dysregulated in several human diseases including diabetes and metabolic syndrome, cardiovascular diseases, neurodegenerative diseases and many cancer types (Steinberg and Kemp, 2009). Two isoforms of AMPK exist including AMPK α1 and AMPK α2; however, discrimination between these isoforms for their involvement in certain diseases is currently not possible....
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(ARMGHM - Atlas Génétique des Cancers, 2019)Review on Extranodal NK/T-cell lymphoma and the genes involved....
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(ARMGHM - Atlas Génétique des Cancers, 2019)Review on t(10;10)(p12;q21) , with data on clinics and the genes involved...
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(ARMGHM - Atlas Génétique des Cancers, 2019)Loss of genetic material from the long arm of chromosome 9 is a common finding in patients with hematological malignancies. These deletions can result from true loss of 9q or complex rearrangements such as dicentric chromosomes, unbalanced translocations, and formation of an isochromosome of the short arm of chromosome 9. Isochromosome i(9)(p10) is an infrequent event that has been described mainly in myeloid malignancies and B-cell lymphomas....
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(ARMGHM - Atlas Génétique des Cancers, 2019)Review on t(X;14)(p22;q32) or t(Y;14)(p11;q32) with data on the genes involved, and clinics....
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(ARMGHM - Atlas Génétique des Cancers, 2019)Plasma cell myeloma (PCM) is a complex and genetically heterogenous hematological malignancy involving clonal proliferation of plasma cells in bone marrow. It is the third most common hematolymphoid malignancy in the United States and primarily affects elderly people with a median onset age of 69 years and a survival duration ranging from a few months to more than 10 years. Standard karyotype and fluorescence in situ hybridization (FISH) evaluation of bone marrow is required in the initial diagnostic workup to risk stratify patients based on their cytogenetic status. Primary cytogenetic events are classified as either hyperdiploid or non-hyperdiploid. Common in non-hyperdiploid cases is rearrangement of the IGH gene on chromosome 14q32.33, most commonly with the CCND1 gene at 11q13.3, and to a lesser extent FGFR3/MMSET genes at 4p16.3 or the MAF gene at 16q23.2. The rarest of these IGH translocations involves the MAFB gene at 20q12, which is the subject of this review....
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