Whole-exome sequencing identifies prognostic mutational signatures in gastric cancer

• Published in: Annals of translational medicine 2020-11, Vol.8 (22), p.1484-1484
• Main Authors: Zhu, Zhenxin, Fu, Hongbing, Wang, Shengzhou, Yu, Xinxin, You, Qing, Shi, Mengyao, Dai, Chun, Wang, Guan, Cha, Wei, Wang, Weimin
• Format: Article
• Language: English
• Subjects: Original
• ISSN: 2305-5839; 2305-5839
• DOI: 10.21037/atm-20-6620

Gastric cancer (GC) is a heterogeneous disease, and is a leading cause of cancer deaths in Eastern Asia. Genomic analysis, such as whole-exome sequencing (WES), can help identify key genetic alterations leading to the malignancy and diversity of GC, and may help identify new drug targets. We identified genomic alterations in a cohort of 38 GC patients, including 26 metastatic and 12 non-metastatic patients. We analyzed the association between novel gene mutations and copy number variations (CNVs) with tumor metastasis and patient survival. A number of significantly mutated genes in somatic and germline cells were identified. Among them, somatic mutation, a potential biomarker of immunotherapy in stomach cancers, was associated with better patient survival (P=0.0939) and metastasis (P=0.074). germline variation was correlated with shorter overall survival (OS; P=0.0100). Novel CNVs were also identified and can potentially be used as biomarkers. These included 9p24.1 deletion (P=0.0376) and 16p11.2 amplification (P=0.0066), which were both associated with shorter OS. CNVs of several genes including , , and were found to be significantly related to metastasis (P