Guilford P J, Hopkins J B, Grady W M, Markowitz S D, Willis J, Lynch H, Rajput A, Wiesner G L, Lindor N M, Burgart L J, Toro T T, Lee D, Limacher J M, Shaw D W, Findlay M P, Reeve A E
Cancer Genetics Laboratory, Department of Biochemistry, University of Otago, Dunedin, New Zealand.
Hum Mutat. 1999;14(3):249-55. doi: 10.1002/(SICI)1098-1004(1999)14:3<249::AID-HUMU8>3.0.CO;2-9.
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.
为了扩展早期关于遗传性弥漫性胃癌家族中种系E-钙黏蛋白突变的观察结果，我们在另外五个主要受弥漫性胃癌影响的家族以及一个有弥漫性胃癌和早发性乳腺癌病史的家族中寻找种系E-钙黏蛋白突变。在这些家族中的每一个中都发现了E-钙黏蛋白基因的杂合失活突变。未发现突变热点。这些结果表明，E-钙黏蛋白基因的种系突变是遗传性弥漫性胃癌的常见原因，并提示这些突变在乳腺癌发病中起作用。
