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胃癌中的突变特征及其临床意义。

Mutational Signatures in Gastric Cancer and Their Clinical Implications.

作者信息

Pužar Dominkuš Pia, Hudler Petra

机构信息

Pharmacogenetics Laboratory, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.

Medical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Vrazov trg 2, 1000 Ljubljana, Slovenia.

出版信息

Cancers (Basel). 2023 Jul 26;15(15):3788. doi: 10.3390/cancers15153788.

Abstract

Gastric cancer is characterised by high inter- and intratumour heterogeneity. The majority of patients are older than 65 years and the global burden of this disease is increasing due to the aging of the population. The disease is usually diagnosed at advanced stages, which is a consequence of nonspecific symptoms. Few improvements have been made at the level of noninvasive molecular diagnosis of sporadic gastric cancer, and therefore the mortality rate remains high. A new field of mutational signatures has emerged in the past decade with advances in the genome sequencing technology. These distinct mutational patterns in the genome, caused by exogenous and endogenous mutational processes, can be associated with tumour aetiology and disease progression, and could provide novel perception on the treatment possibilities. This review assesses the mutational signatures found in gastric cancer and summarises their potential for use in clinical setting as diagnostic or prognostic biomarkers. Associated treatment options and biomarkers already implemented in clinical use are discussed, together with those that are still being explored or are in clinical studies.

摘要

胃癌的特点是肿瘤间和肿瘤内高度异质性。大多数患者年龄超过65岁,由于人口老龄化,这种疾病的全球负担正在增加。该疾病通常在晚期被诊断出来,这是非特异性症状导致的结果。散发性胃癌的非侵入性分子诊断方面进展甚微,因此死亡率仍然很高。在过去十年中,随着基因组测序技术的进步,出现了一个新的突变特征领域。这些由外源性和内源性突变过程引起的基因组中独特的突变模式,可能与肿瘤病因和疾病进展相关,并可为治疗可能性提供新的认识。本综述评估了在胃癌中发现的突变特征,并总结了它们作为诊断或预后生物标志物在临床应用中的潜力。同时讨论了已经在临床中应用的相关治疗选择和生物标志物,以及仍在探索或处于临床研究阶段的那些。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1e90/10416847/7a82c216cea2/cancers-15-03788-g001.jpg

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