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Genomic alterations in gastric cancers discovered via whole-exome sequencing

Jie Zhang1, Weiqing Qiu1, Hua Liu1

  • 1Department of General Surgery, South Campus, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, 2000 Jiangyue Road, Shanghai, 201112, China.

BMC Cancer
|December 21, 2018
PubMed
Abstract

Insights

This study analyzed whole-exome sequencing data from metastatic gastric cancer patients, identifying key mutations and copy number variations in primary tumors and lymph node metastases. These findings offer preliminary insights into gastric cancer progression.

Area of Science:

  • Oncology
  • Genomics
  • Cancer Metastasis

Background:

  • Gastric cancer (GC) is a leading cause of cancer mortality, with metastases driving most deaths.
  • Limited understanding exists regarding GC development and metastasis mechanisms.

Purpose of the Study:

  • To investigate the molecular underpinnings of gastric adenocarcinoma (GAC) metastasis.
  • To identify genetic alterations in primary tumors and corresponding lymph node metastases.

Main Methods:

  • Whole-exome sequencing (WES) was performed on 5 metastatic GAC patients.
  • Primary tumors and lymph node metastases were compared to detect single nucleotide variants (SNVs), indels, and copy number variants (CNVs).

Main Results:

  • Thirty candidate mutations were confirmed in both primary and metastatic tissues; 7 were exclusive to primary tumors.
  • Copy number gains in 17q12-21 and losses in CDKN2A/CDKN2B regions were observed in both primary and metastatic tissues.

Conclusions:

  • Preliminary insights into molecular mechanisms of GC initiation, development, and metastatic progression were provided.
  • Results require validation through large-scale studies.
Keywords:
Candidate mutationsCopy number variation (CNV)Gastric adenocarcinoma (GAC)MetastasisSNPWhole-exome sequencing

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