文献检索文档翻译深度研究
Suppr Zotero 插件Zotero 插件
邀请有礼套餐&价格历史记录

新学期,新优惠

限时优惠:9月1日-9月22日

30天高级会员仅需29元

1天体验卡首发特惠仅需5.99元

了解详情
不再提醒
插件&应用
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
高级版
套餐订阅购买积分包
AI 工具
文献检索文档翻译深度研究
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2025

健康个体的种系突变来自遗传性弥漫性胃癌综合征的家族。

germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome.

机构信息

Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy

Division of Breast Surgery, European Institute of Oncology (IEO), IRCCS, Milan, Italy.

出版信息

J Med Genet. 2022 Apr;59(4):313-317. doi: 10.1136/jmedgenet-2021-108226. Epub 2021 Dec 24.


DOI:10.1136/jmedgenet-2021-108226
PMID:34952833
Abstract

The objective of this study was to determining the frequency of different sub-types of pathogenic germline mutations in healthy and asymptomatic individuals from families with the hereditary diffuse gastric cancer (HDGC) syndrome. Relevant literature dating from 1998 to 2019 was systematically searched for data on germline mutations. The collected variants were classified according to their subtype into the following classes: missense, non-sense, splicing, insertions and deletions. The χ test was used to estimate if the difference observed between patients with gastric cancer (GC) and unaffected individuals was statistically significant. genetic screening data were retrieved for 224 patients with GC and 289 healthy individuals. Among the subjects that had tested positive, splicing mutations were found in 30.4% of the healthy individuals and in 15.2% of the patients with GC (p=0.0076). Missense mutations were also found to occur in healthy subjects with higher frequency (22.2%) than in GC-affected individuals (18.3%), but the difference was not significant in this case. In families meeting the clinical criteria for the HDGC syndrome, splicing and missense germline mutations have been reported to occur with higher frequency in healthy subjects than in patients with cancer. This preliminary observation suggests that not all pathogenic germline mutations confer the same risk of developing GC.

摘要

本研究旨在确定遗传性弥漫性胃癌(HDGC)综合征家族中健康无症状个体中不同种系致病性突变的频率。系统性地检索了 1998 年至 2019 年的相关文献,以获取种系突变的数据。收集到的变体根据其亚型分为以下几类:错义、无义、剪接、插入和缺失。使用 χ 检验来估计胃癌(GC)患者和未受影响个体之间观察到的差异是否具有统计学意义。对 224 名 GC 患者和 289 名健康个体进行了遗传筛查数据检索。在检测为阳性的受试者中,在 30.4%的健康个体和 15.2%的 GC 患者中发现了剪接突变(p=0.0076)。在健康受试者中也发现错义突变的发生率较高(22.2%),高于 GC 患者(18.3%),但在这种情况下差异无统计学意义。在符合 HDGC 综合征临床标准的家族中,已经报道了剪接和错义种系突变在健康受试者中的发生率高于癌症患者。这一初步观察表明,并非所有致病性种系突变都具有相同的发展 GC 的风险。

相似文献

[1]
germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome.

J Med Genet. 2022-4

[2]
Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women.

J Cancer Res Clin Oncol. 2023-11

[3]
Clinical Implication of CDH1 Mutations in Genetic Testing for Diffuse Gastric Cancer Patients.

Oncology. 2024

[4]
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

Gastroenterology. 2015-6-11

[5]
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.

Lancet Oncol. 2023-1

[6]
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

JAMA Oncol. 2015-4

[7]
Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC).

J Med Genet. 2019-2-11

[8]
Cancer predisposition and germline CTNNA1 variants.

Eur J Med Genet. 2021-10

[9]
Cleft lip/palate and hereditary diffuse gastric cancer: report of a family harboring a CDH1 c.687 + 1G > A germline mutation and review of the literature.

Fam Cancer. 2019-4

[10]
Identification of c.1531C>T Pathogenic Variant in the Gene as a Novel Germline Mutation of Hereditary Diffuse Gastric Cancer.

Int J Mol Sci. 2019-10-9

引用本文的文献

[1]
The First Gene Mutation Gastric Cancer Case in Kazakhstan: Implications for Genetic Screening; A Letter to the Editor.

Iran J Med Sci. 2025-3-1

[2]
Current advances and challenges in Managing Hereditary Diffuse Gastric Cancer (HDGC): a narrative review.

Hered Cancer Clin Pract. 2024-10-8

[3]
Mutational landscape of TP53 and CDH1 in gastric cancer.

World J Gastrointest Surg. 2024-2-27

[4]
Germline CDH1 variants in hereditary diffuse gastric cancer syndrome with focus on younger women.

J Cancer Res Clin Oncol. 2023-11

[5]
FDG and Non-FDG Radiopharmaceuticals for PET Imaging in Invasive Lobular Breast Carcinoma.

Biomedicines. 2023-5-3

[6]
Landscape of Druggable Molecular Pathways Downstream of Genomic CDH1/Cadherin-1 Alterations in Gastric Cancer.

J Pers Med. 2022-12-3

[7]
Pleiotropic cancer manifestations of germline CDH1 mutations: Risks and management.

J Surg Oncol. 2022-6

[8]
Antitumor responses in gastric cancer by targeting B7H3 via chimeric antigen receptor T cells.

Cancer Cell Int. 2022-1-31

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

推荐工具

医学文档翻译智能文献检索