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摘要:
Hereditary diffuse gastric cancer(HDGC) is an inherited autosomal dominant syndrome with a penetrance of up to 80% affecting diverse geographic populations. While it has been shown to be caused mainly by germline alterations in the E-cadherin gene(CDH1), problematically, the genetic diagnosis remains unknown in up to 60% of patients. Given the important knowledge gaps regarding the syndrome, asymptomatic carriers of CDH1 mutations are advised for a prophylactic total gastrectomy. Intensive annual endoscopic surveillance is the alternative for carriers who decline gastrectomy. As HDGCs have a prolonged indolent phase, this provides a window of opportunity for surveillance and treatment. Recent findings of other gene defects in CTNNA1 and MAP3K6, as well as further characterization of CDH1 mutations and their pathogenicity will change the way HDGC patients are counselled for screening, surveillance and treatment. This review will bring the reader up to date with these changes and discuss future directions for research; namely more accurate risk stratification and surveillance methods to improve clinical care of HDGC patients.
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篇名 Hereditary diffuse gastric cancer: What the clinician should know
来源期刊 世界胃肠肿瘤学杂志:英文版(电子版) 学科 医学
关键词 HEREDITARY DIFFUSE GASTRIC cancer CDH1 CTNNA1 MAP3
年,卷(期) 2015,(9) 所属期刊栏目
研究方向 页码范围 153-160
页数 8页 分类号 R735.2
字数 语种
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HEREDITARY
DIFFUSE
GASTRIC
cancer
CDH1
CTNNA1
MAP3
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世界胃肠肿瘤学杂志:英文版(电子版)
月刊
1948-5204
北京市朝阳区东四环中路62号楼远洋国际中
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664
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