Article
Combined loss of CDH1 and downstream regulatory sequences drive early-onset diffuse gastric cancer and increase penetrance of hereditary diffuse gastric cancer.
Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association - 1 Sept 2023
São José Celina, Garcia-Pelaez José, Ferreira Marta, Arrieta Oscar, André Ana, Martins Nelson, Solís Samantha, Martínez-Benítez Braulio, Ordóñez-Sánchez María Luisa, Rodríguez-Torres Maribel, Sommer Anna K, Te Paske Iris B A W, Caldas Carlos, Tischkowitz Marc, Tusié Maria Teresa, Hoogerbrugge Nicoline, Demidov German, de Voer Richarda M, Laurie Steve, Oliveira Carla
Abstract excerpt
BACKGROUND: Germline CDH1 pathogenic or likely pathogenic variants cause hereditary diffuse gastric cancer (HDGC). Once a genetic cause is identified, stomachs' and breasts' surveillance and/or prophylactic surgery is offered to asymptomatic CDH1 carriers, which is life-saving. Herein, we charact...
Topics
- Humans
- Adult
- Stomach Neoplasms
- Penetrance
- Genetic Predisposition to Disease
- Adenocarcinoma
- Cadherins
- Chromatin
- Germ-Line Mutation