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Updated: Feb 1, 2026

Spatial and Temporal Analysis of Active ERK in the C. elegans Germline
Published on: November 29, 2016
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers
Patrick R Benusiglio1,2, Chrystelle Colas3,4,5, Erell Guillerm6
1Consultation d'Oncogénétique, Unité fonctionnelle d'Oncogénétique, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière AP-HP, 75013, Paris, France. patrick.benusiglio@aphp.fr.
Abstract:
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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