Article
Hereditary diffuse gastric cancer spectrum associated with germline CTNNA1 loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls.
Gut - 7 Apr 2026
Lobo Silvana, Dias Alexandre, Pedro Ana Maria, Ferreira Marta, Pinto-Oliveira André, São José Celina, Herrera-Mullar Jennifer, Pinto Nádia, Colas Chrystelle, Hüneburg Robert, Nattermann Jacob, Boussemart Lise, van Hest Liselotte P, Moreira Leticia, Horton Carolyn, Farengo Clark Dana, Tinschert Sigrid, Golmard Lisa, Spier Isabel, López-Fernández Adriá, Oliveira Daniela, Svrcek Magali, Bourgoin Pierre, Coulet Florence, Delhomelle Hélène, Davis Jeremy, Zäncker Birthe, Lazaro Conxi, Guerra Joana, Almeida Maria L, Carrera Sergio, Patiño Ana, Gundlach Paul, Laszkowska Monika, Strong Vivian E, Teixeira Manuel R, Schrader Intan, Steinke-Lange Verena, Gullo Irene, Sousa Sérgio, Batista Manuela, Aretz Stefan, Balmaña Judith, Aronson Melyssa, Antoniazzi Augusto Perazzolo, Palmero Edenir I, Mansfield Paul, van der Kolk Lizet E, Cats Annemieke, van Dieren Jolanda M, Castellví-Bel Sergi, Katona Bryson, Karam Rachid, Pereira Paulo S, Benusiglio Patrick R, Oliveira Carla
Abstract excerpt
BACKGROUND: Diffuse gastric cancer (DGC) is the most common manifestation in germline CTNNA1 variant carriers, with one study estimating a 49-57% lifetime risk by age 80. Knowledge on CTNNA1-associated hereditary diffuse gastric cancer (HDGC), loss-of-function mechanisms, variant-type causality, disease spectrum and cancer risks remains scarce. OBJECTIVE: Explore CTNNA1 genotype-phenotype associations to improve...
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