Article
Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression.
Gastroenterology - 1 Jun 2009
Oliveira Carla, Sousa Sónia, Pinheiro Hugo, Karam Rachid, Bordeira-Carriço Renata, Senz Janine, Kaurah Pardeep, Carvalho Joana, Pereira Rui, Gusmão Leonor, Wen Xiaogang, Cipriano Maria Augusta, Yokota Jun, Carneiro Fátima, Huntsman David, Seruca Raquel
Abstract excerpt
BACKGROUND & AIMS: Hereditary diffuse gastric cancer (HDGC) families carry CDH1 heterozygous germline mutations; their tumors acquire complete CDH1 inactivation through "2nd-hit" mechanisms. Most frequently, this occurs via promoter hypermethylation (epigenetic modification), and less frequently via CDH1 mutations and loss of heterozygosity (LOH). We quantified the different 2nd hits in CDH1 occurring in...
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