Erschienen in:
01.07.2019 | Short Communication
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers
verfasst von:
Patrick R. Benusiglio, Chrystelle Colas, Erell Guillerm, Axelle Canard, Hélène Delhomelle, Mathilde Warcoin, Jérôme Bellanger, Mélanie Eyries, Mohamed Zizi, Jeanne Netter, Florent Soubrier, Yann Parc, Anne Mourregot, Aurélie Maran Gonzalez, Veronica Cusin, Jérôme A. Denis, Isabelle Coupier, Magali Svrcek, Florence Coulet
Erschienen in:
Gastric Cancer
|
Ausgabe 4/2019
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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.