Current status of the study on hereditary diffuse gastric cancer

随着遗传性弥漫型胃癌的发现，诊断标准的建立和发病机制相关的分子生物学研究，使人们对这一特殊的遗传性胃癌有了较深地了解。CDH1基因突变被证实与遗传性弥漫型胃癌直接相关，并以常染色体显性的方式遗传。目前，国际对CDH1胚系基因突变携带者的随访和筛查策略日渐完善，但我国相关的研究还十分缺乏。本文旨在从临床、病理、分子病因学、基因筛查、随访和治疗等方面总结遗传性弥漫性胃癌的研究现状，探讨我国遗传性胃癌的现状及展望如何进行胃癌相关遗传筛查和预防，以期为临床和科研工作提供参考。Hereditary diffuse gastric cancer was discovered 25 years ago. During the last 25 years, the diagnostic standards and molecular mechanism of this type of hereditary gastric cancer have been established. With a better understanding of this disease, germline CDH1 mutation has been linked to hereditary diffuse gastric cancer with autosomal-dominant inheritance pattern. Therefore, strategies on genetic screening and follow-up have been evolved for CDH1 mutation carriers. In China, the studies on hereditary diffuse gastric cancer are sparse. We hope this article will bring more awareness and attention of this peculiar disease to Chinese physicians.PubMed中国科技核心期刊(ISTIC)中国科学引文数据库(CSCD)03295-2971