Article
Allele-specific CDH1 downregulation and hereditary diffuse gastric cancer.
Human molecular genetics - 1 Mar 2010
Pinheiro Hugo, Bordeira-Carriço Renata, Seixas Susana, Carvalho Joana, Senz Janine, Oliveira Patrícia, Inácio Patrícia, Gusmão Leonor, Rocha Jorge, Huntsman David, Seruca Raquel, Oliveira Carla
Abstract excerpt
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant cancer susceptibility syndrome characterized by early-onset diffuse gastric cancer (DGC) and lobular breast cancer. E-cadherin (CDH1) heterozygous germline mutations and deletions are found in 40% of families. Independent of CDH1 alterations, most HDGC tumours display mislocalized or absent E-cadherin immunoexpression, therefore undetected defects...
Topics
- Adult
- Alleles
- Antigens, CD
- Cadherins
- Down-Regulation
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Haplotypes
- Humans
- Stomach Neoplasms