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

Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

作者信息

Vogelaar Ingrid P, van der Post Rachel S, van Krieken J Han Jm, Spruijt Liesbeth, van Zelst-Stams Wendy Ag, Kets C Marleen, Lubinski Jan, Jakubowska Anna, Teodorczyk Urszula, Aalfs Cora M, van Hest Liselotte P, Pinheiro Hugo, Oliveira Carla, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Lupski James R, de Ligt Joep, Vissers Lisenka E L M, Hoischen Alexander, Gilissen Christian, van de Vorst Maartje, Goeman Jelle J, Schackert Hans K, Ranzani Guglielmina N, Molinaro Valeria, Gómez García Encarna B, Hes Frederik J, Holinski-Feder Elke, Genuardi Maurizio, Ausems Margreet G E M, Sijmons Rolf H, Wagner Anja, van der Kolk Lizet E, Bjørnevoll Inga, Høberg-Vetti Hildegunn, van Kessel Ad Geurts, Kuiper Roland P, Ligtenberg Marjolijn J L, Hoogerbrugge Nicoline

机构信息

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.

出版信息

Eur J Hum Genet. 2017 Nov;25(11):1246-1252. doi: 10.1038/ejhg.2017.138. Epub 2017 Sep 6.


DOI:10.1038/ejhg.2017.138
PMID:28875981
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5643972/
Abstract

Recognition of individuals with a genetic predisposition to gastric cancer (GC) enables preventive measures. However, the underlying cause of genetic susceptibility to gastric cancer remains largely unexplained. We performed germline whole-exome sequencing on leukocyte DNA of 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type GC to identify novel GC-predisposing candidate genes. As young age at diagnosis and familial clustering are hallmarks of genetic tumor susceptibility, we selected patients that were diagnosed below the age of 35, patients from families with two cases of GC at or below age 60 and patients from families with three GC cases at or below age 70. All included individuals were tested negative for germline CDH1 mutations before or during the study. Variants that were possibly deleterious according to in silico predictions were filtered using several independent approaches that were based on gene function and gene mutation burden in controls. Despite a rigorous search, no obvious candidate GC predisposition genes were identified. This negative result stresses the importance of future research studies in large, homogeneous cohorts.

摘要

相似文献

[1]
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.

Eur J Hum Genet. 2017-11

[2]
Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer.

Fam Cancer. 2015-6

[3]
Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer.

Int J Mol Sci. 2021-1-28

[4]
Role of germline aberrations affecting , and in gastric cancer susceptibility.

J Med Genet. 2018-1-12

[5]
E-cadherin genetic screening and clinico-pathologic characteristics of early onset gastric cancer.

Eur J Cancer. 2010-11-22

[6]
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

Gastroenterology. 2015-6-11

[7]
Gastric cancer: new genetic developments.

J Surg Oncol. 2005-6-1

[8]
E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients.

Eur J Cancer. 2004-8

[9]
CDH1/E-cadherin germline mutations in early-onset gastric cancer.

J Med Genet. 2006-11

[10]
Genetic testing by cancer site: stomach.

Cancer J. 2012

引用本文的文献

[1]
Rethinking the rise of early-onset gastrointestinal cancers: a call to action.

JNCI Cancer Spectr. 2025-1-3

[2]
CTNND1 is involved in germline predisposition to early-onset gastric cancer by affecting cell-to-cell interactions.

Gastric Cancer. 2024-7

[3]
Diagnostic Performance of Positron Emission Tomography with Fibroblast-Activating Protein Inhibitors in Gastric Cancer: A Systematic Review and Meta-Analysis.

Int J Mol Sci. 2023-6-14

[4]
Frequency of Positive Familial Criteria in Patients with Adenocarcinoma of the Esophageal-Gastric Junction and Stomach: First Prospective Data in a Caucasian Cohort.

Cancers (Basel). 2022-7-23

[5]
Biomarkers for Gastric Cancer Screening and Early Diagnosis.

Biomedicines. 2021-10-12

[6]
Lifestyles, genetics, and future perspectives on gastric cancer in east Asian populations.

J Hum Genet. 2021-9

[7]
Clinical, Molecular and Genetic Characteristics of Early Onset Gastric Cancer: Analysis of a Large Multicenter Study.

Cancers (Basel). 2021-6-23

[8]
A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report.

Eur J Hum Genet. 2021-9

[9]
Genetic Gastric Cancer Risk Syndromes.

Curr Treat Options Gastroenterol. 2020-12

[10]
Identification of New Genes Involved in Germline Predisposition to Early-Onset Gastric Cancer.

Int J Mol Sci. 2021-1-28

本文引用的文献

[1]
Analysis of protein-coding genetic variation in 60,706 humans.

Nature. 2016-8-18

[2]
Exome sequencing in one family with gastric- and rectal cancer.

BMC Genet. 2016-2-13

[3]
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect.

Fam Cancer. 2016-4

[4]
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.

JAMA Oncol. 2015-4

[5]
Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.

Gastroenterology. 2015-6-11

[6]
Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.

J Med Genet. 2015-6

[7]
Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer.

Fam Cancer. 2015-6

[8]
Germline mutations in MAP3K6 are associated with familial gastric cancer.

PLoS Genet. 2014-10-23

[9]
Complementary molecular approaches reveal heterogeneous CDH1 germline defects in Italian patients with hereditary diffuse gastric cancer (HDGC) syndrome.

Genes Chromosomes Cancer. 2014-2-3

[10]
NR2F1 mutations cause optic atrophy with intellectual disability.

Am J Hum Genet. 2014-1-23

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