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. 1999;14(3):249-55.
doi: 10.1002/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9.

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

P J Guilford  1 , J B Hopkins, W M Grady, S D Markowitz, J Willis, H Lynch, A Rajput, G L Wiesner, N M Lindor, L J Burgart, T T Toro, D Lee, J M Limacher, D W Shaw, M P Findlay, A E Reeve
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E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer

P J Guilford et al. Hum Mutat. 1999.

Abstract

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.

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