Article
Intragenic deletion of CDH1 as the inactivating mechanism of the wild-type allele in an HDGC tumour.
Oncogene - 18 Mar 2004
Oliveira Carla, de Bruin Joyce, Nabais Sérgio, Ligtenberg Marjolijn, Moutinho Cátia, Nagengast Fokko M, Seruca Raquel, van Krieken Han, Carneiro Fátima
Abstract excerpt
Mutations in CDH1, encoding E-cadherin, are the underlying genetic defect in approximately one-third of the hereditary diffuse gastric cancer (HDGC) families described so far. Tumours arising in these families show abnormal or absence of E-cadherin expression, following the model of tumour suppre...
Topics
- Age of Onset
- Alleles
- Biopsy
- Cadherins
- Carcinoma, Signet Ring Cell
- DNA Mutational Analysis
- Endoscopy
- Female
- Gene Deletion
- Genes, Tumor Suppressor
- Genetic Carrier Screening
- Germ-Line Mutation
- Heterozygote
- Humans
- Immunohistochemistry
- Male
- Neoplasm Staging
- Pedigree