Article
First estimates of diffuse gastric cancer risks for carriers of CTNNA1 germline pathogenic variants.
Journal of medical genetics - 1 Dec 2022
Coudert Marie, Drouet Youenn, Delhomelle Hélène, Svrcek Magali, Benusiglio Patrick R, Coulet Florence, Clark Dana Farengo, Katona Bryson W, van Hest Liselotte P, van der Kolk Lizet E, Cats Annemieke, van Dieren Jolanda M, Nehoray Bita, Slavin Thomas, Spier Isabel, Hüneburg Robert, Lobo Silvana, Oliveira Carla, Boussemart Lise, Masson Laure, Chiesa Jean, Schwartz Mathias, Buecher Bruno, Golmard Lisa, Bouvier Anne-Marie, Bonadona Valérie, Stoppa-Lyonnet Dominique, Lasset Christine, Colas Chrystelle
Abstract excerpt
BACKGROUND: Pathogenic variants (PV) of CTNNA1 are found in families fulfilling criteria for hereditary diffuse gastric cancer (HDGC) but no risk estimates were available until now. The aim of this study is to evaluate diffuse gastric cancer (DGC) risks for carriers of germline CTNNA1 PV. METHODS: Data from published CTNNA1 families were updated and new families were identified through international...
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