Clinical implications of CTNNA1 germline mutations in asymptomatic carriers
Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association(2018)
摘要
In 2017, we implemented CTNNA1 germline analysis in probands suspected of having hereditary diffuse gastric cancer. Here, we report the results from a retrospective series of 41 cases, including the identification of a new family with a CTNNA1 mutation and the first prophylactic total gastrectomy in an asymptomatic carrier after a normal upper endoscopy. Diffuse gastric cancer foci with loss of catenin alpha-1 expression were seen in the resected tissue, suggesting that CTNNA1 and CDH1 germline mutations behave in a similar manner. Life-changing prophylactic total gastrectomy should therefore also be considered in CTNNA1 mutation carriers.
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关键词
Diffuse gastric cancer,CDH1,CTNNA1,Signet-ring cell,Hereditary cancer
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