Hereditary diffuse gastric cancer spectrum associated with germline <i>CTNNA1</i> loss of function revealed by clinical and molecular data from 351 carrier families and over 37 000 non-carrier controls

We provide compelling evidence supporting that <i>CTNNA1</i>-truncating variants positively associate with DGC and LBC, and NMD as the pathophysiological mechanism leading to <i>CTNNA1</i> downregulation. We demonstrate that compared with <i>CDH1</i>, <i>CTNNA1</i> is a moderate penetrance HDGC gene. This new knowledge is essential to define surveillance and/or prophylactic measures for <i>CTNNA1</i>-carrier individuals and families.

Authors

Institutions

Publication Details

Journal
Gut
Published
2025-09-25
DOI
https://doi.org/10.1136/gutjnl-2024-334601
Citations
4
Primary Topic
Genetic factors in colorectal cancer
Type
article
Field-Weighted Citation Impact
5.89

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
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

Ana Patiño‐García, Lise Boussemart, Nádia Pinto, Patrick R. Benusiglio et al.
4 citations
Gut
Genetic factors in colorectal cancer
5.89
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

Ana Patiño‐García, Lise Boussemart, Nádia Pinto, Patrick R. Benusiglio, Rachid Karam, Annemieke Cats, Sigrid Tinschert, Jolanda M. van Dieren, Silvana Lobo, Florence Coulet, Kasmintan A. Schrader, Robert Hüneburg, Adrià López‐Fernández, Irene Gullo, Sergi Castellvı́-Bel, Bryson W. Katona, Daniela de Oliveira, Chrystelle Colas, Vivian E. Strong, Augusto Perazzolo Antoniazzi, Carolyn Horton, Isabel Spier, Manuel R. Teixeira, Leticia Moreira, Marta Vaz Batista, Jacob Nattermann, Monika Laszkowska, Manuel Almeida, Carla Oliveíra, Pierre Bourgoin, Paul J Gundlach, Edenir Inêz Palmero, Jeremy L. Davis, Conxi Lázaro, Verena Steinke‐Lange, Melyssa Aronson, Celina São José, Judith Balmañà, Augusto Q. Pedro, Joana Guerra, Alexandre Dias, Liselotte P. van Hest, Hélène Delhomelle, Jennifer Herrera-Mullar, Paulo S. Pereira, Sérgio B. Sousa, Lisa Golmard, Magali Svrcek, Sergio Carrera, Lizet E. van der Kolk, Paul Mansfield, Stefan Aretz, Marta Ferreira, Dana Clark, Birthe Zäncker, André Pinto-Oliveira
article en
4 citations

Abstract

We provide compelling evidence supporting that <i>CTNNA1</i>-truncating variants positively associate with DGC and LBC, and NMD as the pathophysiological mechanism leading to <i>CTNNA1</i> downregulation. We demonstrate that compared with <i>CDH1</i>, <i>CTNNA1</i> is a moderate penetrance HDGC gene. This new knowledge is essential to define surveillance and/or prophylactic measures for <i>CTNNA1</i>-carrier individuals and families.

Gut
Hebron University (PS), Universitat Autònoma de Barcelona (ES), BC Cancer Agency (CA), Memorial Sloan Kettering Cancer Center (US), The University of Texas MD Anderson Cancer Center (US), University of Bonn (DE), Innsbruck Medical University (AT), Inserm (FR), Universidade do Porto (PT), Universität Innsbruck (AT), Cornell University (US), University Hospital Bonn (DE), The Netherlands Cancer Institute (NL), Hospital de São João (PT), LMU Klinikum (DE), Sorbonne Université (FR), Institut d'Investigació Biomédica de Bellvitge (ES), Hospital de Câncer de Barretos (BR), Departament de Salut (ES), Hôpital Saint-Antoine (FR), Instituto Português de Oncologia Francisco Gentil (PT), Institut Català d'Oncologia (ES), Administração Regional de Saúde de Lisboa e Vale do Tejo (PT), National Center for Tumor Diseases (DE), Navarre Institute of Health Research (ES), Institute of Human Genetics (PL), Pitié-Salpêtrière Hospital (FR), Cancer Genomics Centre (NL), Vall d'Hebron Hospital Universitari (ES), Sinai Health System (CA), Paris Cardiovascular Research Center (FR), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (ES), Centre de Recherche Saint-Antoine (FR), Hospital de Cruces (ES), Hospital Braga (PT), National Cancer Institute (US), Instituto Nacional de Câncer - INCA (BR), Center for Cancer Research (US), Erasmus MC Cancer Institute (NL), Ambry Genetics (United States) (US), Centro de Investigación Biomédica en Red de Cáncer (ES), i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT), Institute of Biomedical Science (GB), Unidade Hospitalar de Bragança (PT), University Hospital Carl Gustav Carus (DE), Klinik und Poliklinik für Psychotherapie und Psychosomatik (DE), Universitat de Barcelona (ES), University of Coimbra (PT), University of Pennsylvania (US), Institut Curie (FR), Universidad de Navarra (ES), Nantes Université (FR)
Fundación Cellex, Centres de Recerca de Catalunya, European Commission, Generalitat de Catalunya, Ministério da Ciência, Tecnologia e Inovação, Ministério da Saúde, Universidade do Porto, National Institutes of Health, HORIZON EUROPE Framework Programme, European Regional Development Fund, Agencia Estatal de Investigación, National Cancer Institute, National Institute of Diabetes and Digestive and Kidney Diseases
Openalex Percentile: Top 4%
Genetic factors in colorectal cancer
5.89
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.