Dataset Information

Mutational landscape of gastric cancer and clinical application of genomic profiling based on target next-generation sequencing.

ABSTRACT:

Background

Gastric cancer (GC) is a leading cause of cancer deaths, and an increased number of GC patients adopt to next-generation sequencing (NGS) to identify tumor genomic alterations for precision medicine.

Methods

In this study, we established a hybridization capture-based NGS panel including 612 cancer-associated genes, and collected sequencing data of tumors and matched bloods from 153 gastric cancer patients. We performed comprehensive analysis of these sequencing and clinical data.

Results

35 significantly mutated genes were identified such as TP53, AKAP9, DRD2, PTEN, CDH1, LRP2 et al. Among them, 29 genes were novel significantly mutated genes compared with TCGA study. TP53 is the top frequently mutated gene, and tends to mutate in male (p?=?0.025) patients and patients whose tumor located in cardia (p?=?0.011). High tumor mutation burden (TMB) gathered in TP53 wild-type tumors (p?=?0.045). TMB was also significantly associated with DNA damage repair (DDR) genes genotype (p?=?0.047), Lauren classification (p?=?1.5e-5), differentiation (1.9e-7), and HER2 status (p?=?0.023). 38.31% of gastric cancer patients harbored at least one actionable alteration according to OncoKB database.

Conclusions

We drew a comprehensive mutational landscape of 153 gastric tumors and demonstrated utility of target next-generation sequencing to guide clinical management.

SUBMITTER: Cai H

PROVIDER: S-EPMC6549266 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Mutational landscape of gastric cancer and clinical application of genomic profiling based on target next-generation sequencing.

Cai Hui H Jing Changqing C Chang Xusheng X Ding Dan D Han Ting T Yang Junchi J Lu Zhengmao Z Hu Xuguang X Liu Zhaorui Z Wang Jinshen J Shang Liang L Wu Shouxin S Meng Peng P Lin Ling L Zhao Jiangman J Nie Mingming M Yin Kai K

Journal of translational medicine 20190604 1

<h4>Background</h4>Gastric cancer (GC) is a leading cause of cancer deaths, and an increased number of GC patients adopt to next-generation sequencing (NGS) to identify tumor genomic alterations for precision medicine.<h4>Methods</h4>In this study, we established a hybridization capture-based NGS panel including 612 cancer-associated genes, and collected sequencing data of tumors and matched bloods from 153 gastric cancer patients. We performed comprehensive analysis of these sequencing and clin ...[more]

PMID: 31164161

Similar Datasets

Project description:BackgroundAround 5%-7% of breast cancer cases are diagnosed in women younger than 40, making it the leading cause of female cancer in the 25- to 39-year-old age group. Unfortunately, young age at diagnosis is linked to a more aggressive tumor biology and a worse clinical outcome. The identification of the mutational landscape of breast cancer in this age group could optimize the management.MethodsWe performed NGS analysis in paraffin blocks and blood samples of 32 young patients with breast cancer [<40 years] and 90 older patients during the period 2019 through 2021. All patients were treated in a single institution at the Oncology Department of "Alexandra" Hospital, Medical School, University of Athens, Greece.ResultsBreast tumors were characterized more frequently by HER2 overexpression [25% vs 18.9%], higher ki67 levels [75% vs 61%] and lower differentiation [71.9% vs 60%] in the younger group. PIK3CA [6/20; 30%] and TP53 [6/20; 30%] were the most frequent pathogenic somatic mutations identified in young patients, while one case of BRCA2 somatic mutation [1/20; 5%] and one case of PTEN somatic mutation [1/20; 5%] were also identified. PIK3CA mutations [16/50; 32%] and TP53 mutations [20/50; 40%] were the most common somatic mutations identified in older patients, however other somatic mutations were also reported (ATM, AKT, CHEK2, NRAS, CDKN2A, PTEN, NF1, RB1, FGFR1, ERBB2). As for germline mutations, CHEK2 [3/25; 12%] was the most common pathogenic germline mutation in younger patients followed by BRCA1 [2/25; 8%]. Of note, CHEK2 germline mutations were identified less frequently in older patients [2/61; 3%] among others [BRCA1 (2/61; 3%), ATM (2/61; 3%), APC (1/61; 1,6%) and BRCA2 (1/61; 1,6%)].ConclusionWe here report the mutational profile identified via NGS in patients with early-onset breast cancer compared to their older counterparts. Although the sample size is small and no statistically significant differences were detected, we highlight the need of genetic testing to most patients in this subgroup.

Dataset Information

Mutational landscape of gastric cancer and clinical application of genomic profiling based on target next-generation sequencing.

Background

Methods

Results

Conclusions

Publications

Mutational landscape of gastric cancer and clinical application of genomic profiling based on target next-generation sequencing.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets