Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer
- 1 September 2000
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 26 (1) , 16-17
- https://doi.org/10.1038/79120
Abstract
Aberrant promoter methylation and the associated loss of gene expression is a common accompaniment of human cancers1. Nonetheless, it has been challenging to demonstrate in any given tumour that methylation of a specific gene was causal and not consequent to malignant transformation. In this regard, our attention was drawn to the genesis of gastric cancers in individuals with hereditary diffuse gastric cancer (HDGC). These individuals harbour germline mutations in the gene encoding E-cadherin, CDH1 (refs 2, 3, 4), but their cancers have consistently demonstrated absence of loss of heterozygosity at the CDH1 locus2,3,4. These findings suggested the hypothesis that CDH1 promoter methylation might function as the ‘second genetic hit’ in the genesis of these cancers.Keywords
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