scholarly journals Inherited mitochondrial genomic instability and chemical exposures

Toxicology ◽  
2017 ◽  
Vol 391 ◽  
pp. 75-83 ◽  
Author(s):  
Sherine S.L. Chan
Keyword(s):  
Genomic Instability ◽  
Chemical Exposures

Genomic instability and radiation mutagenesis

1996 ◽  
Vol 93 ◽  
pp. 157-164 ◽  
Author(s):  
JB Little ◽  
C Li ◽  
H Nagasawa ◽  
T Pfenning ◽  
H Vetrovs
Keyword(s):  
Genomic Instability

Genomic instability in non-functioning pituitary adenomas

2005 ◽  
Vol 113 (08) ◽  
Author(s):  
J Szymas ◽  
K Schluens ◽  
W Liebert ◽  
I Petersen
Keyword(s):  
Genomic Instability ◽  
Pituitary Adenomas ◽  
Non Functioning Pituitary Adenomas

CONTRIBUTION OF DNA COPY-NUMBER VARIATION (CNV) TO CANCER SUSCEPTIBILITY AND LARGE-SCALE GENOME ALTERATIONS IN OSTEOSARCOMA (OS)

2008 ◽  
Vol 31 (4) ◽  
pp. 19
Author(s):  
I Pasic ◽  
A Shlien ◽  
A Novokmet ◽  
C Zhang ◽  
U Tabori ◽  
...  
Keyword(s):  
Genomic Instability ◽  
Large Scale ◽  
Structural Variation ◽  
Age Of Onset ◽  
Cancer Susceptibility ◽  
Small Sample Size ◽  
Snp Array ◽  
Tumour Suppressor Gene ◽  
Small Sample ◽  
International Hapmap Project

Introduction: OS, a common Li-Fraumeni syndrome (LFS)-associated neoplasm, is a common bone malignancy of children and adolescents. Sporadic OS is also characterized by young age of onset and high genomic instability, suggesting a genetic contribution to disease. This study examined the contribution of novel DNA structural variation elements, CNVs, to OS susceptibility. Given our finding of excessive constitutional DNA CNV in LFS patients, which often coincide with cancer-related genes, we hypothesized that constitutional CNV may also provide clues about the aetiology of LFS-related sporadic neoplasms like OS. Methods: CNV in blood DNA of 26 patients with sporadic OS was compared to that of 263 normal control samples from the International HapMap project, as well as 62 local controls. Analysis was performed on DNA hybridized to Affymetrix genome-wide human SNP array 6.0 by Partek Genomic Suite. Results: There was no detectable difference in average number of CNVs, CNV length, and total structural variation (product of average CNV number and length) between individuals with OS and controls. While this data is preliminary (small sample size), it argues against the presence of constitutional genomic instability in individuals with sporadic OS. Conclusion: We found that the majority of tumours from patients with sporadic OS show CN loss at chr3q13.31, raising the possibility that chr3q13.31 may represent a “driver” region in OS aetiology. In at least one OS tumour, which displays CN loss at chr3q13.31, we demonstrate decreased expression of a known tumour suppressor gene located at chr3q13.31. We are investigating the role ofchr3q13.31 in development of OS.

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