Mutational signature analysis

ZC Zhang-Hua Chen
SY Shu-Mei Yan
XC Xi-Xi Chen
QZ Qi Zhang
SL Shang-Xin Liu
YL Yang Liu
YL Yi-Ling Luo
CZ Chao Zhang
MX Miao Xu
YZ Yi-Fan Zhao
LH Li-Yun Huang
BL Bin-Liu Liu
TX Tian-Liang Xia
DX Da-Zhi Xu
YL Yao Liang
YC Yong-Ming Chen
WW Wei Wang
SY Shu-Qiang Yuan
HZ Hui-Zhong Zhang
JY Jing-Ping Yun
WZ Wei-Wei Zhai
MZ Mu-Sheng Zeng
FB Fan Bai
QZ Qian Zhong
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Single nucleotide variations (SNVs) could be categorized into 6 directions, namely, C > T, C > A, C > G, T > C, T > G, and T > A. Considering the 5′ and 3′ flanking nucleotides of a specific mutated base, a total of 96 substitution types exist. We first plotted the “lego” plots to compare the frequency of mutations within specific contexts in precursor lesions and EBVaGCs of 20 patients. As the set of mutational contexts of tumor samples was an imprint of the mutational process that shaped the cancer genome, we then performed a mutational signature analysis of all silent and non-silent mutations in our study. To extract the underlying mutational signatures in single precursor lesion samples and EBVaGCs, we applied the R package deconstructSigs [16] to each sample using the 30 signatures documented by the COSMIC as reference. After extraction, we calculated and compared the mean weights of different signatures in 45 precursor lesions and 65 EBVaGCs.

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