Article
A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach.
Cancer biology & therapy - 3 Apr 2018
Caggiari Laura, Miolo Gianmaria, Canzonieri Vincenzo, De Zorzi Mariangela, Alessandrini Lara, Corona Giuseppe, Cannizzaro Renato, Santeufemia Davide Adriano, Cossu Antonio, Buonadonna Angela, De Re Valli
Abstract excerpt
Germline mutations in CDH1, the gene coding for the E-cadherin adhesion protein, are known to cause hereditary diffuse gastric cancer. We identified a new truncating germline mutation (p.Asp538Thrfs*19) in exon 11 of the CDH1 gene in a 41-year-old male with a diffuse gastric cancer. Although he had no parental history of gastric cancer, the co-segregation study in the family detected the same mutation in his...
Topics
- Adult
- Antigens, CD
- Antineoplastic Combined Chemotherapy Protocols
- Cadherins
- Carcinoma, Signet Ring Cell
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Humans
- Male
- Protein Domains