CDH1基因种系突变：不同综合征，相同的治疗方法？ - Suppr

CDH1 germline mutations: different syndromes, same management?

作者信息

Benusiglio Patrick R

机构信息

Département de Médecine Oncologique, Consultation d'Oncogénétique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.

出版信息

Genet Med. 2017 Sep;19(9):965-966. doi: 10.1038/gim.2017.24. Epub 2017 Apr 20.

DOI:10.1038/gim.2017.24

PMID:28425982

Abstract

摘要

相似文献

CDH1 germline mutations: different syndromes, same management?CDH1基因种系突变：不同综合征，相同的治疗方法？

Genet Med. 2017 Sep;19(9):965-966. doi: 10.1038/gim.2017.24. Epub 2017 Apr 20.

E-Cadherin (CDH1) and p53 rather than SMAD4 and Caspase-10 germline mutations contribute to genetic predisposition in Portuguese gastric cancer patients.E-钙黏蛋白（CDH1）和p53而非SMAD4和半胱天冬酶-10种系突变导致葡萄牙胃癌患者的遗传易感性。

Eur J Cancer. 2004 Aug;40(12):1897-903. doi: 10.1016/j.ejca.2004.04.027.

Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1.CDH1 种系突变患者中遗传性弥漫性胃癌检测标准和结果的准确性。

Gastroenterology. 2015 Oct;149(4):897-906.e19. doi: 10.1053/j.gastro.2015.06.003. Epub 2015 Jun 11.

Germline E-cadherin mutations in familial lobular breast cancer.家族性小叶乳腺癌中的种系E-钙黏蛋白突变

J Med Genet. 2007 Nov;44(11):726-31. doi: 10.1136/jmg.2007.051268. Epub 2007 Jul 27.

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.唇腭裂和遗传性弥漫性胃癌：携带有 CDH1 c.687 + 1G > A 种系突变的家族报告及文献复习。

Fam Cancer. 2019 Apr;18(2):253-260. doi: 10.1007/s10689-018-0111-5.

Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.高发和低发地区胃癌中 CDH1 种系突变的频率：荟萃分析和文献系统综述。

BMC Cancer. 2012 Jan 6;12:8. doi: 10.1186/1471-2407-12-8.

Familial gastric cancer and germline mutations of E-cadherin.家族性胃癌与E-钙黏蛋白的种系突变

Ann Ital Chir. 2012 May-Jun;83(3):177-82.

CDH1/E-cadherin germline mutations in early-onset gastric cancer.早发性胃癌中的CDH1/E-钙黏蛋白种系突变

J Med Genet. 2006 Nov;43(11):867-72. doi: 10.1136/jmg.2006.043133. Epub 2006 Jun 26.

Mutual exclusion of CDH1 and BRCA germline mutations in the pathway of hereditary breast cancer.

Arch Gynecol Obstet. 2018 Apr;297(4):1067-1068. doi: 10.1007/s00404-018-4705-9. Epub 2018 Feb 3.

Hereditary diffuse gastric cancer - pathophysiology and clinical management.遗传性弥漫性胃癌——病理生理学与临床管理

Best Pract Res Clin Gastroenterol. 2014 Dec;28(6):1055-68. doi: 10.1016/j.bpg.2014.09.007. Epub 2014 Sep 28.

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Frequency of and Germline Variants in Families with Diffuse and Mixed Gastric Cancer.弥漫性和混合型胃癌家族中及种系变异的频率

Cancers (Basel). 2023 Aug 29;15(17):4313. doi: 10.3390/cancers15174313.

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.Grhl2 的非编码插入性突变导致基因过表达和多种结构异常，包括腭裂、脊柱裂和脑膨出。

Hum Mol Genet. 2023 Aug 26;32(17):2681-2692. doi: 10.1093/hmg/ddad094.

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.英国癌症遗传学组的指南：英国遗传服务机构提供的癌症基因检测面板中应包含的基因的共识。

J Med Genet. 2018 Jun;55(6):372-377. doi: 10.1136/jmedgenet-2017-105188. Epub 2018 Apr 16.

本文引用的文献

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.眼口指综合征是一种与 CDH1 通路相关的疾病，由 CDH1 和 CTNND1 的突变引起。

Genet Med. 2017 Sep;19(9):1013-1021. doi: 10.1038/gim.2017.11. Epub 2017 Mar 16.

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond.遗传性弥漫性胃癌综合征：CDH1 突变及其他。

JAMA Oncol. 2015 Apr;1(1):23-32. doi: 10.1001/jamaoncol.2014.168.

Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation.遗传性弥漫性胃癌综合征：2015年用于识别携带CDH1种系突变先证者的检测标准的性能改进

J Med Genet. 2015 Aug;52(8):563-5. doi: 10.1136/jmedgenet-2015-103153. Epub 2015 May 29.

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers.遗传性弥漫性胃癌：强调种系CDH1突变携带者的最新临床指南

J Med Genet. 2015 Jun;52(6):361-74. doi: 10.1136/jmedgenet-2015-103094. Epub 2015 May 15.

Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature.眼-口-牙（BCD）综合征：表型扩展、病例报告及文献复习。

Am J Med Genet A. 2014 Jun;164A(6):1525-9. doi: 10.1002/ajmg.a.36465. Epub 2014 Apr 9.

Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.鉴定口腔面裂患者中癌症易感基因 CDH1 的种系突变。

Hum Mol Genet. 2013 Mar 1;22(5):919-26. doi: 10.1093/hmg/dds497. Epub 2012 Nov 29.

Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1.唇腭裂、遗传性弥漫性胃癌与CDH1基因的种系突变

Int J Cancer. 2013 May 15;132(10):2470. doi: 10.1002/ijc.27923. Epub 2012 Nov 16.

Int J Cancer. 2012 Jul 15;131(2):367-76. doi: 10.1002/ijc.26398. Epub 2011 Oct 23.

Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.肛门闭锁是眼睑-唇-牙颌综合征的一种罕见相关表现。

Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.

Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): pathologic findings with clinical implications.针对E-钙黏蛋白（CDH1）种系突变进行的降低风险的全胃切除术：具有临床意义的病理结果

Am J Surg Pathol. 2008 Jun;32(6):799-809. doi: 10.1097/PAS.0b013e31815e7f1a.

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CDH1 germline mutations: different syndromes, same management?

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