Resolving gastric cancer aetiology: an update in genetic predisposition

Lott, Paul; Carvajal‐Carmona, Luis G.

doi:10.1016/s2468-1253(18)30237-1

Cited by 78 publications

(76 citation statements)

References 89 publications

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“…were also identified in previous studies [6][7][8][9], there is a marked difference in the types of variants involved and other mutated loci were identified here for the first time.…”

Section: Discussionsupporting

confidence: 62%

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric cancer patients

Zhang

Yang

Wei

et al. 2020

Preprint

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Background: Approximately 10% of patients with gastric cancer (GC) have a genetic predisposition for the disease. To date, knowledge regarding germline mutations in predisposing genes in the Chinese GC population is scarce. The aim of this study was to determine the spectrum and distribution of predisposing gene mutations among Chinese GC patients known to have hereditary high-risk factors for cancer. Methods: Forty patients from among ten families were recruited from seven medical institutions in China. Next-generation sequencing was performed on 171 genes associated with cancer predisposition. For probands with pathogenic/likely pathogenic germline variants, Sanger sequencing was used to validate the variants in the probands and their relatives. Results: Sequencing indicated that 25% (10/40) of the patients carried a combined total of ten pathogenic or likely pathogenic germline variants involving nine different genes: CDH1 (n = 1), MLH1 (n = 1), MSH2 (n = 1), CHEK2 (n = 1), BLM (n = 1), EXT2 (n = 1), PALB2 (n = 1), ERCC2 (n = 1), and SPINK1 (n = 2). Five of these variants have not previously been reported. In addition, a total of 129 variants of uncertain significance were identified in 27 patients. Conclusions: This study found that 25% of Chinese GC patients with hereditary high-risk factors have deleterious germline alterations. This result may indicate a unique genetic background of GC among Chinese patients.

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“…were also identified in previous studies [6][7][8][9], there is a marked difference in the types of variants involved and other mutated loci were identified here for the first time.…”

Section: Discussionsupporting

confidence: 62%

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric cancer patients

Zhang

Yang

Wei

et al. 2020

Preprint

View full text Add to dashboard Cite

show abstract

“…3j). were also identified in previous studies [6][7][8][9], there is a marked difference in the types of variants involved and other mutated loci were identified here for the first time.…”

Section: Familial Pedigrees and Sanger Sequencingsupporting

confidence: 62%

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric cancer patients

Zhang

Yang

Wei

et al. 2019

Preprint

View full text Add to dashboard Cite

BackgroundApproximately 10% of patients with gastric cancer (GC) have a genetic predisposition for the disease. To date, knowledge regarding germline mutations in predisposing genes in the Chinese GC population is scarce. The aim of this study was to determine the spectrum and distribution of predisposing gene mutations among Chinese GC patients known to have hereditary high-risk factors for cancer. Forty patients from among ten families were recruited from seven medical institutions in China. Next-generation sequencing was performed on 171 genes associated with cancer predisposition. For probands with pathogenic/likely pathogenic germline variants, Sanger sequencing was used to validate the variants in the probands and their relatives.ResultsSequencing indicated that 25% (10/40) of the patients carried a combined total of ten pathogenic or likely pathogenic germline variants involving nine different genes: CDH1 (n = 1), MLH1 (n = 1), MSH2 (n = 1), CHEK2 (n = 1), BLM (n = 1), EXT2 (n = 1), PALB2 (n = 1), ERCC2 (n = 1), and SPINK1 (n = 2). Five of these variants have not previously been reported. In addition, a total of 129 variants of uncertain significance were identified in 27 patients.ConclusionsThis study found that 25% of Chinese GC patients with hereditary high-risk factors have deleterious germline alterations. This result may indicate a unique genetic background of GC among Chinese patients.

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“…Gastric cancer (GC) is the third leading cause of cancer death with pathological and molecular heterogeneity characteristics [1,2,11]. In the past, clinicopathological indicators have been used for risk stratification of GC.…”

Section: Discussionmentioning

confidence: 99%

“…Gastric cancer (GC) is ranked as the third cause of cancerrelated death; each year, there is about one million newly diagnosed GC [1,2]. In the early stage of GC, surgery can prolong the survival of patients [3].…”

Section: Introductionmentioning

confidence: 99%

Integrated Analysis Identifies an Immune-Based Prognostic Signature for the Mesenchymal Identity in Gastric Cancer

Peng¹,

Ruan

et al. 2020

BioMed Research International

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Background. Gastric cancer (GC) has been divided into four molecular subtypes, of which the mesenchymal subtype has the poorest survival. Our goal is to develop a prognostic signature by integrating the immune system and molecular modalities involved in the mesenchymal subtype. Methods. The gene expression profiles collected from 6 public datasets were applied to this study, including 1,221 samples totally. Network analysis was applied to integrate the mesenchymal modalities and immune signature to establish an immune-based prognostic signature for GC (IPSGC). Results. We identified six immune genes as key factors of the mesenchymal subtype and established the IPSGC. The IPSGC can significantly divide patients into high- and low-risk groups in terms of overall survival (OS) and relapse-free survival (RFS) in discovery (OS: P<0.001) and 5 independent validation sets (OS range: P=0.05 to P<0.001; RFS range: P=0.03 to P<0.001). Further, in multivariate analysis, the IPSGC remained an independent predictor of prognosis and performed better efficiency compared to clinical characteristics. Moreover, macrophage M2 was significantly enriched in the high-risk group, while plasma cells were enriched in the low-risk group. Conclusions. We propose an immune-based signature identified by network analysis, which is a promising prognostic biomarker and help for the selection of GC patients who might benefit from more rigorous therapies. Further prospective studies are warranted to test and validate its efficiency for clinical application.

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Resolving gastric cancer aetiology: an update in genetic predisposition

Cited by 78 publications

References 89 publications

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric cancer patients

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric cancer patients

A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric cancer patients

Integrated Analysis Identifies an Immune-Based Prognostic Signature for the Mesenchymal Identity in Gastric Cancer

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