Gayther S A, Gorringe K L, Ramus S J, Huntsman D, Roviello F, Grehan N, Machado J C, Pinto E, Seruca R, Halling K, MacLeod P, Powell S M, Jackson C E, Ponder B A, Caldas C
Department of Oncology and Cancer Research Campaign Human Cancer Genetics Research Group, University of Cambridge, Addenbrooke's Hospital, United Kingdom.
Cancer Res. 1998 Sep 15;58(18):4086-9.
E-cadherin germ-line mutations have recently been described as a molecular basis for early-onset familial gastric cancer in Maori kindred. We screened 18 gastric cancer families of European origin for germ-line mutations to determine the proportion in which E-cadherin mutations occur and the clinical characteristics of the affected families. Truncating mutations were identified in three kindred with familial diffuse gastric cancer. In these families, the age of onset of gastric cancer was variable, the penetrance was incomplete, and one kindred contained individuals with cancers at other sites. Here, we show that a proportion of diffuse gastric cancer families of European origin have germ-line E-cadherin mutations; however, these mutations are absent in intestinal gastric cancer families.
E-钙黏蛋白种系突变最近被描述为毛利人家族性早发性胃癌的分子基础。我们对18个欧洲裔胃癌家族进行了种系突变筛查，以确定E-钙黏蛋白突变发生的比例以及受影响家族的临床特征。在三个家族性弥漫性胃癌家族中发现了截短突变。在这些家族中，胃癌的发病年龄各不相同，外显率不完全，并且有一个家族的个体患有其他部位的癌症。在这里，我们表明一部分欧洲裔弥漫性胃癌家族存在E-钙黏蛋白种系突变；然而，这些突变在肠型胃癌家族中不存在。
