A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach. Issue 4 (3rd April 2018)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Cancer biology & therapy. Volume 19:Issue 4(2018)
• Page Start: 254
• Page End: 259
• Publication Date: 2018-04-03
• Subjects: CDH1 -- diffuse gastric cancer -- E-Cadherin -- germline mutation; 616.99406
• DOI: 10.1080/15384047.2017.1394540
• Languages: English
• ISSNs: 1538-4047

Abstract

ABSTRACT: 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 healthy 31-year-old brother. The mutation affects one of the extracellular repeat (CAD repeats) domains which is essential for the homophilic binding specificity that directs "E-cadherin" to bind with itself each others. In this case, immunohistochemical analysis showed no expression of E-cadherin in the tumor sample and was a useful prescreening tool to genetic testing. This finding was associated with a poor response to trastuzumab-based treatment.