Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients -: art. no. e89
Germline mutations of the E-cadherin(CDH1) and TP53 genes, rather than of RUNX3 and HPP1, contribute to genetic predisposition in German gastric cancer patients -: art. no. e89
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DOI：
10.1136/jmg.2003.015594
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发表时间：
2004-06-01
影响因子：
4
通讯作者：
Höfler, H
中科院分区：
文献类型：
--
作者：
Keller, G;Vogelsang, H;Höfler, H
材料和方法家族性胃癌的定义家族性胃癌的定义标准是：至少两个一级或二级亲属患有胃癌，其中一个在50岁之前被诊断;或至少三个一级或二级亲属患有胃癌，与诊断时的年龄无关。索引患者的胃癌经组织病理学报告证实。研究方案由当地伦理委员会审查和批准，并在患者知情同意的情况下获得DNA样本和家族史。用于生殖系突变分析的患者来自德国的35名家族性胃癌患者的DNA样本进行了生殖系E-钙粘蛋白突变分析;其中7名患者被纳入先前的研究。4指数患者中，根据Lauren分类，24例为弥漫型胃癌，6例为混合型胃癌，5例为肠型胃癌。18 24个家庭中有4个符合国际胃癌关联联盟（IGCLC）定义的HDGC严格标准。[19]在这四个家族中，除了索引病例的组织学验证外，至少在另一个家族成员中证实了诊断（表1）。
MATERIALS AND METHODS Definition of familial gastric cancer Criteria for the definition of familial gastric cancer are: at least two first or second degree relatives with gastric cancer, one diagnosed before the age of 50; or at least three first or second degree relatives with gastric cancer, independent of age at diagnosis. Gastric cancer of the index patients was confirmed by histopathological reports. The study protocol was reviewed and approved by the local ethics committee, and DNA samples and family history were obtained with the informed consent of the patients.Patients for germline mutation analysis DNA samples from 35 familial gastric cancer patients from Germany were analysed for germline E-cadherin mutations; seven of these patients were included in a previous study. 4 Of the index patients, 24 were affected with diffuse type, six with mixed type, and five with an intestinal type of gastric cancer according to the classification of Lauren. 18 Four of the 24 families fulfilled the strict criteria for HDGC, defined by the International Gastric Cancer Linkage Consortium (IGCLC). 19 In these four families, besides the histological verification of the index case, the diagnosis was confirmed in at least another family member (table 1).