Mutations of the human E‐cadherin (CDH1) gene

摘要: The cell-cell adhesion molecule E-cadherin is well known to act as a strong invasion suppressor in experimental tumor cell systems. Frequent inactivating mutations have been identified for the gene (CDH1) diffuse gastric cancers and lobular breast cancers. To date, 69 somatic reported comprising, addition few missense mutations, mainly splice site truncation caused by insertions, deletions, nonsense mutations. Interestingly, there major difference mutation type between infiltrative In tumors, predominant defects are exon skippings, which cause in-frame deletions. By contrast, most found infiltrating out-of-frame predicted yield secreted truncated fragments. cases, these do occur combination with loss of heterozygosity (LOH) wild-type allele. Inactivating germline were recently families early-onset cancer. Also, at early stages sporadic cancers, detected, suggesting growth control such defining true particular types.