E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer

✍ Scribed by Guilford, Parry J. (author);Hopkins, Justin B.W. (author);Grady, William M. (author);Markowitz, Sanford D. (author);Willis, Joseph (author);Lynch, Henry (author);Rajput, Ashwani (author);Wiesner, Georgia L. (author);Lindor, Noralane M. (author);Burgart, Lawrence J. (author);Toro, Tumi T. (author);Lee, Don (author);Limacher, Jean Marc (author);Shaw, David W. (author);Findlay, Michael P.N. (author);Reeve, Anthony E. (author)

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 287 KB
• Volume: 14
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1999)14:3<249::aid-humu8>3.0.co;2-9

✦ Synopsis

Communicated by Henrik Dahl

To extend earlier observations of germline E-cadherin mutations in kindreds with an inherited susceptibility to diffuse gastric cancer, we searched for germline E-cadherin mutations in five further families affected predominantly by diffuse gastric cancer and one family with a history of diffuse gastric cancer and early-onset breast cancer. Heterozygous inactivating mutations were found in the E-cadherin gene in each of these families. No mutation hotspots were identified. These results demonstrate that germline mutation of the E-cadherin gene is a common cause of hereditary diffuse gastric cancer and suggest a role for these mutations in the incidence of breast cancer.