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- Title
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
- Authors
Benusiglio, Patrick R.; Colas, Chrystelle; Guillerm, Erell; Canard, Axelle; Delhomelle, Hélène; Warcoin, Mathilde; Bellanger, Jérôme; Eyries, Mélanie; Zizi, Mohamed; Netter, Jeanne; Soubrier, Florent; Parc, Yann; Mourregot, Anne; Maran Gonzalez, Aurélie; Cusin, Veronica; Denis, Jérôme A.; Coupier, Isabelle; Svrcek, Magali; Coulet, Florence
- 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.
- Subjects
STOMACH cancer; GASTRECTOMY
- Publication
Gastric Cancer, 2019, Vol 22, Issue 4, p899
- ISSN
1436-3291
- Publication type
Article
- DOI
10.1007/s10120-018-00907-7