Article
Cancer predisposition and germline CTNNA1 variants.
European journal of medical genetics - 1 Oct 2021
Lobo Silvana, Benusiglio Patrick R, Coulet Florence, Boussemart Lise, Golmard Lisa, Spier Isabel, Hüneburg Robert, Aretz Stefan, Colas Chrystelle, Oliveira Carla
Abstract excerpt
Hereditary Diffuse Gastric Cancer (HDGC) is a cancer predisposing syndrome mainly caused by germline inactivating variants in CDH1, encoding E-cadherin. Early-onset diffuse gastric cancer (DGC) and/or invasive lobular breast cancer (LBC) are the main phenotypes in CDH1-associated HDGC. CTNNA1, en...
Topics
- Antigens, CD
- Cadherins
- Gene Frequency
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Heterozygote
- Humans
- Pedigree
- Phenotype
- Stomach Neoplasms
- alpha Catenin