Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer
Molecular pathology of familial gastric cancer, with an emphasis on hereditary diffuse gastric cancer
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DOI：
10.1136/jcp.2006.043679
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发表时间：
2008-01-01
影响因子：
3.4
通讯作者：
Seruca, R.
中科院分区：
文献类型：
--
作者：
Carneiro, F.;Oliveira, C.;Seruca, R.
胃癌是全球癌症相关死亡的主要原因之一。约10%的病例可观察到家族聚集性；1-3%的病例是遗传性的。在后一组中，一种典型的综合征是遗传性弥漫性胃癌；这与大约30%的家系中的CDH1(E-钙粘蛋白)胚系突变有关。本文综述了家族性胃癌的临床、分子和病理特点，以及正确诊断和临床处理的实用方面。
Gastric cancer is one of the major causes of cancer-related death worldwide. Familial clustering is observed in about 10% of cases; 1-3% of cases are hereditary. In the latter group, a syndrome which has been well characterised is hereditary diffuse gastric cancer; this is specifically associated with CDH1 (E-cadherin) germline mutations in about 30% of families. In this article, the state of the art of familial gastric cancer regarding the clinical, molecular and pathology features is reviewed, as well as the practical aspects for a correct diagnosis and clinical management.