A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach.

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A new mutation of the CDH1 gene in a patient with an aggressive signet-ring cell carcinoma of the stomach.

Cancer Biol Ther. 2017 Nov 13;:1-6

Authors: Caggiari L, Miolo G, Canzonieri V, De Zorzi M, Alessandrini L, Corona G, Cannizzaro R, Santeufemia DA, Cossu A, Buonadonna A, De Re V

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.

PMID: 29131691 [PubMed - as supplied by publisher]

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