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Bhak, Jong
KOrean GenomIcs Center
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Mutational hotspots in the mitochondrial genome of lung cancer

Author(s)
Choi, So-JungKim, Sung-HyunKang, Ho Y.Lee, JinseonBhak, Jong HwaSohn, InsukJung, Sin-HoChoi, Yong SooKim, Hong KwanHan, JunghoHuh, NamLee, GyusangKim, Byung C.Kim, Jhingook
Issued Date
2011-04
DOI
10.1016/j.bbrc.2011.02.078
URI
https://scholarworks.unist.ac.kr/handle/201301/9650
Fulltext
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=79953163479
Citation
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, v.407, no.1, pp.23 - 27
Abstract
We determined the somatic mutations in the mitochondrial genomes of 70 lung cancer patients by pair-wise comparative analyses of the normal- and tumor-genome sequences acquired using Affymetrix Mitochondrial Resequencing Array 2.0. The overall mutation rates in lung cancers were Approximately 100 fold higher than those in normal cells, with significant statistical correlation with smoking (p = 0.00088). Total of 532 somatic mutations were evenly distributed in 499 positions with very low overall frequency (1.07/bp), but the non-synonymous mutations causing amino acid substitution occurred more frequently (1.83/bp), particularly at two positions, 8701 and 10398 (10.5/bp) that code for ATPase6 and NADH dehydrogenase 3, respectively. Despite the randomness or even distribution of the mutations, these two mutations occurred together in 86% of the cases. The linkage between the two most frequent mutations suggests that they were selected together, possibly due to their cooperative role during cancer development. Indeed, the mutation at 10398 was shown by Canter, Pezzotti, and their colleagues in 2009, as a risk factor for breast cancer. In this study, we identified two potential biomarkers that might be functionally linked together during the development of cancer.
Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
ISSN
0006-291X

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