genomic instability

Analysis of microsatellite instability and loss of heterozygosity in ovarian cancer: a study in the population of Espírito Santo, Brazil

L. N. R. Alves, Wolfgramm, E. V., Neto, A. Kde Castro, and Louro, I. D., Analysis of microsatellite instability and loss of heterozygosity in ovarian cancer: a study in the population of Espírito Santo, Brazil, vol. 12, pp. 1996-2001, 2013.

Ovarian cancer is currently the most lethal gynecological malignancy in women. It is a heterogeneous and cytogenetically complex disease previously associated with genomic instability. Our purpose was to analyze microsatellite markers to determine patterns and levels of instability as well as possible correlations with histopathological parameters. Polymerase chain reaction was used to characterize microsatellite instability (MSI) and loss of heterozygosity (LOH) in 24 ovarian tumors at 12 microsatellite loci. A total of 11 samples displayed MSI or LOH.

Leukemia/lymphoma-associated gene fusions in normal individuals

M. S. Brassesco, Leukemia/lymphoma-associated gene fusions in normal individuals, vol. 7. pp. 782-790, 2008.

Hematopoietic neoplasias are characterized by recurrent chromosomal aberrations that result in the formation of gene fusions and the subsequent expression of chimeric proteins with unique properties. However, in recent years, different lymphoma/leukemia-associated rearrangements, such as BCR/ABL, IGH/BCL2, ETV6/RUNX1 and MLL duplications, have been detected in healthy individuals. The presence of these rearrangements indicates that such translocations can be generated in normal hematopoietic cells without apparent oncogenic consequences.

Inflammatory response to isocyanates and onset of genomic instability in cultured human lung fibroblasts

P. K. Mishra, Bhargava, A., Raghuram, G. V., Gupta, S., Tiwari, S., Upadhyaya, R., Jain, S. K., and Maudar, K. K., Inflammatory response to isocyanates and onset of genomic instability in cultured human lung fibroblasts, vol. 8, pp. 129-143, 2009.

Lungs comprise the primary organ exposed to environmental toxic chemicals, resulting in diverse respiratory ailments and other disorders, including carcinogenesis. Carcinogenesis is a multi-stage phenomenon, which involves a series of genetic alterations that begin with genomic instability provoked by certain factors such as inflammation and DNA damage and end with the development of cancer.

Buccal micronucleus frequency is associated with age in Down syndrome

F. L. S. Ferreira, Prá, D., Martino-Roth, M. G., and Garcias, G. L., Buccal micronucleus frequency is associated with age in Down syndrome, vol. 8, pp. 1231-1237, 2009.

Down syndrome has been linked to premature aging and genomic instability. We examined the frequency of micronucleus (MN) and binucleated cells in the oral mucosa of Down syndrome patients and healthy controls matched by age and gender, addressing the effect of age and family income. Down syndrome individuals had an increased number of MN (14.30 ± 9.35 vs 4.03 ± 1.71; P 0.001) and binucleated cells (0.97 ± 1.3 vs 0.33 ± 0.66; P 0.05) per 2000 cells.

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