TY - JOUR
T1 - Comparative genomic analysis of esophageal squamous cell carcinoma between Asian and Caucasian patient populations
AU - Deng, Jiaying
AU - Chen, Hu
AU - Zhou, Daizhan
AU - Zhang, Junhua
AU - Chen, Yun
AU - Liu, Qi
AU - Ai, Dashan
AU - Zhu, Hanting
AU - Chu, Li
AU - Ren, Wenjia
AU - Zhang, Xiaofei
AU - Xia, Yi
AU - Sun, Menghong
AU - Zhang, Huiwen
AU - Li, Jun
AU - Peng, Xinxin
AU - Li, Liang
AU - Han, Leng
AU - Lin, Hui
AU - Cai, Xiujun
AU - Xiang, Jiaqing
AU - Chen, Shufeng
AU - Sun, Yihua
AU - Zhang, Yawei
AU - Zhang, Jie
AU - Chen, Haiquan
AU - Zhang, Shijian
AU - Zhao, Yi
AU - Liu, Yun
AU - Liang, Han
AU - Zhao, Kuaile
N1 - Publisher Copyright:
© 2017 The Author(s).
PY - 2017/12/1
Y1 - 2017/12/1
N2 - Esophageal squamous cell carcinoma is a major histological type of esophageal cancer, with distinct incidence and survival patterns among races. Although previous studies have characterized somatic mutations in this disease, a rigorous comparison between different patient populations has not been conducted. Here we sequence the samples of 316 Chinese patients, combine them with those from The Cancer Genome Atlas, and perform a comparative analysis between Asian and Caucasian patients. We find that mutated CSMD3 is associated with better prognosis in Asian patients. Applying a robust computational strategy that adjusts for both technical and biological confounding factors, we find that TP53, EP300, and NFE2L2 show higher mutational frequencies in Asian patients. Moreover, NFE2L2 mutations correlate with the allele status of a nearby high-Fst SNP, suggesting their potential interaction. Our study provides insights into the molecular basis underlying the striking racial disparities of this disease, and represents a general computational framework for such a cross-population comparison.
AB - Esophageal squamous cell carcinoma is a major histological type of esophageal cancer, with distinct incidence and survival patterns among races. Although previous studies have characterized somatic mutations in this disease, a rigorous comparison between different patient populations has not been conducted. Here we sequence the samples of 316 Chinese patients, combine them with those from The Cancer Genome Atlas, and perform a comparative analysis between Asian and Caucasian patients. We find that mutated CSMD3 is associated with better prognosis in Asian patients. Applying a robust computational strategy that adjusts for both technical and biological confounding factors, we find that TP53, EP300, and NFE2L2 show higher mutational frequencies in Asian patients. Moreover, NFE2L2 mutations correlate with the allele status of a nearby high-Fst SNP, suggesting their potential interaction. Our study provides insights into the molecular basis underlying the striking racial disparities of this disease, and represents a general computational framework for such a cross-population comparison.
UR - http://www.scopus.com/inward/record.url?scp=85034439534&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85034439534&partnerID=8YFLogxK
U2 - 10.1038/s41467-017-01730-x
DO - 10.1038/s41467-017-01730-x
M3 - Article
C2 - 29142225
AN - SCOPUS:85034439534
SN - 2041-1723
VL - 8
JO - Nature communications
JF - Nature communications
IS - 1
M1 - 1533
ER -