Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
CDH1
CTNNA1
Diffuse gastric cancer
Hereditary cancer
Signet-ring cell
Journal
Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association
ISSN: 1436-3305
Titre abrégé: Gastric Cancer
Pays: Japan
ID NLM: 100886238
Informations de publication
Date de publication:
07 2019
07 2019
Historique:
received:
17
09
2018
accepted:
26
11
2018
pubmed:
6
12
2018
medline:
31
12
2019
entrez:
6
12
2018
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30515673
doi: 10.1007/s10120-018-00907-7
pii: 10.1007/s10120-018-00907-7
doi:
Substances chimiques
CTNNA1 protein, human
0
alpha Catenin
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
899-903Références
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