Clinical implications of CTNNA1 germline mutations in asymptomatic carriers

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...

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Published in:Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2019-07, Vol.22 (4), p.899-903
Main 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
Format: Article
Language:English
Subjects:
Abdominal Surgery
Adult
alpha Catenin - genetics
alpha Catenin - metabolism
Asymptomatic Diseases - therapy
Cancer
Cancer Research
Carcinoma, Signet Ring Cell - genetics
Carcinoma, Signet Ring Cell - metabolism
Carcinoma, Signet Ring Cell - pathology
Carcinoma, Signet Ring Cell - surgery
E-cadherin
Endoscopy
Female
Follow-Up Studies
Gastrectomy
Gastric cancer
Gastroenterology
Genetic Predisposition to Disease
Genetics
Germ-Line Mutation
Human genetics
Human health and pathology
Humans
Hépatology and Gastroenterology
Life Sciences
Male
Medicine
Medicine & Public Health
Middle Aged
Mutation
Oncology
Pedigree
Prognosis
Retrospective Studies
Short Communication
Stomach Neoplasms - genetics
Stomach Neoplasms - metabolism
Stomach Neoplasms - pathology
Stomach Neoplasms - surgery
Surgical Oncology
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Summary: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.
ISSN:1436-3291
1436-3305
DOI:10.1007/s10120-018-00907-7