Journal
GASTRIC CANCER
Volume 22, Issue 4, Pages 899-903Publisher
SPRINGER
DOI: 10.1007/s10120-018-00907-7
Keywords
Diffuse gastric cancer; CDH1; CTNNA1; Signet-ring cell; Hereditary cancer
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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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