Abstract 3524: Whole-exome sequencing of esophageal squamous cell carcinoma identifies recurrent mutations in Chinese subjects

• Published in: Cancer research (Chicago, Ill.) Vol. 79; no. 13_Supplement; p. 3524
• Main Authors: Liu, Meng, Feng, Lin, An, Hai yin
• Format: Journal Article
• Language: English
• Published: 01.07.2019
• ISSN: 0008-5472; 1538-7445
• DOI: 10.1158/1538-7445.AM2019-3524

Background and Aims: Epidemiological and etiological studies have shown that environmental and genetic factors play vital roles in esophageal carcinogenesis. However the genetic risk factors of esophageal squamous cell carcinoma (ESCC) still remain unclear. Here, we aimed to identify the recurrent mutations of ESCC in Chinese Uygur subjects from the China Xinjiang high-risk region by using a whole-exome sequencing method. Materials and Methods: We collected 50 Chinese Uygur patients with ESCC tumors and matched blood samples and adjacent normal oesophageal tissues (≥5cm from tumour site) at Xinjiang tumor hospital in China. Informed consent was obtained from each participant, and this study was approved by the Institutional Review Board of the Xinjiang tumor hospital. All the individuals underwent oesophagectomy and received no chemotherapy or radiotherapy before surgery. Whole-exome sequencing analysis (100bp) of DNA samples from 50 ESCC was performed on the Illumina HiSeq X Ten System. Results: We obtained 353,56 SNVs and 1157 indels in the exonic regions of 50 ESCC samples. Besides, we found the predominant mutations were the C>T and C>A transitions at TpCpW trinucleotide sites. And Three ESCC signatures were derived, which are highly similar to validated Signatrue-1, Signature-5 and Signature-13 in Cosmic. We identified four significantly mutated genes including TP53, CDKN2A, LGALS3 and C16orf3 (q<0.5). Moreover, the aberrant pathways including the receptor tyrosine kinases (RTK/RAS/ phosphoinositide-3 kinase (PI3K)), NOTCH, WNT, Hippo, TP53 and cell cycle were identified. Conclusions: We provided mutated genes and disrupted pathways in ESCCs. These findings might be used to specific treatments for esophageal squamous cell carcinoma in Chinese Uygur subjects. Acknowledgements: This work was supported by the Research Fund of Key Laboratory of Xinjiang oncology (No. 2017D04006) and Outstanding Youth Science and technology training project fund of Xinjiang (No. 2017Q058). Citation Format: Meng Liu, Lin Feng, Hai yin An. Whole-exome sequencing of esophageal squamous cell carcinoma identifies recurrent mutations in Chinese subjects [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 3524.