Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis | Zendy

Hai-De Qin | Zendy; Xiaoyu Liao | Zendy; Yuanbin Chen | Zendy; Shao-Yi Huang | Zendy; Wen-Qiong Xue | Zendy; Fangfang Li | Zendy; Xiao-Song Ge | Zendy; De-Qing Liu | Zendy; Qiuyin Cai | Zendy; Jirong Long | Zendy; Xi-Zhao Li | Zendy; Ye-Zhu Hu | Zendy; Shao-Dan Zhang | Zendy; Lan-Jun Zhang | Zendy; Benjamin Lehrman | Zendy; Alan F. Scott | Zendy; Dongxin Lin | Zendy; Yi-Xin Zeng | Zendy; Yin Yao Shugart | Zendy; Wei-Hua Jia | Zendy

Open Access

Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis

Author(s) -

Hai-De Qin,

Xiaoyu Liao,

Yuanbin Chen,

Shao-Yi Huang,

Wen-Qiong Xue,

Fangfang Li,

Xiao-Song Ge,

De-Qing Liu,

Qiuyin Cai,

Jirong Long,

Xi-Zhao Li,

Ye-Zhu Hu,

Shao-Dan Zhang,

Lan-Jun Zhang,

Benjamin Lehrman,

Alan F. Scott,

Dongxin Lin,

Yi-Xin Zeng,

Yin Yao Shugart,

Wei-Hua Jia

Publication year - 2016

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2016.02.021

Subject(s) - carcinogenesis , esophageal squamous cell carcinoma , gene , biology , basal cell , cancer research , carcinoma , genetics , medicine , pathology

The genetic mechanisms underlying the poor prognosis of esophageal squamous cell carcinoma (ESCC) are not well understood. Here, we report somatic mutations found in ESCC from sequencing 10 whole-genome and 57 whole-exome matched tumor-normal sample pairs. Among the identified genes, we characterized mutations in VANGL1 and showed that they accelerated cell growth in vitro. We also found that five other genes, including three coding genes (SHANK2, MYBL2, FADD) and two non-coding genes (miR-4707-5p, PCAT1), were involved in somatic copy-number alterations (SCNAs) or structural variants (SVs). A survival analysis based on the expression profiles of 321 individuals with ESCC indicated that these genes were significantly associated with poorer survival. Subsequently, we performed functional studies, which showed that miR-4707-5p and MYBL2 promoted proliferation and metastasis. Together, our results shed light on somatic mutations and genomic events that contribute to ESCC tumorigenesis and prognosis and might suggest therapeutic targets.

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