CDH1 Mutation Detection Kit with Next Generation Sequence Analysis
Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant disease characterized by susceptibility to diffuse gastric cancer, which is a poorly differentiated adenocarcinoma that infiltrates in the form of increased gastric wall thickness without forming a significant mass. The average age of cancer development in the HDGC is 38 years and it occurs in individuals between 14-69 years of age. Mutations in the CDH1 gene are responsible for this susceptibility syndrome, and the cases among women who were diagnosed with mutations in this gene have a 39-52% risk of contracting lobular breast cancer, apart from the HDGC.
To date, the only gene identified to be responsible for the HDGK cases is CDH1, and mutation can be detected in this gene in about 50% of the cases. The pathogenic variant can be detected in more than 90% of the cases in which the mutation is detected, by sequence analysis in coding regions of the gene.