A germline E-cadherin mutation in a family with gastric and colon cancer

Inactivating Mutations have been found in the cell-cell adhesion molecule E -cadherin (CDH1). which acts as a tumor Suppressor gene in different kinds of cancers, e.g. primarily diffuse gastric cancer and lobular breast cancer . In this study, we screened for germline alterations in familial gastric a nd colon cancer cases. In total, 20 gastric and 18 colon cancer patients wi th both familial gastric and colon cancer were tested for germline E-cadher in alterations by using PCR/SSCP, specific restriction digestion test and s equencing. No pathogenic mutations were identified in the gastric cancer pa tients. In two colon cancer patients, a missense mutation in exon 12, codon 592 (Ala592Thr) was found. This alteration segregated with diffuse gastric cancer and colon cancer in one of the families. The prevalence of this alt eration in the general population and colon cancer cases was almost the sam e. However, the fact that this alteration (Ala592Thr) segregated with colon cancer and diffuse gastric cancer in one big family, suggests that this E- cadherin missense alteration, beside predisposing to diffuse gastric cance r, also may play a role in colorectal carcinogenesis.