Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.
Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and low-risk areas: metanalysis and systematic review of the literature.
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DOI：
10.1186/1471-2407-12-8
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发表时间：
2012-01-06
期刊：
影响因子：
3.8
通讯作者：
Roviello F
中科院分区：
文献类型：
--
作者：
Corso G;Marrelli D;Pascale V;Vindigni C;Roviello F
在胃癌发病率不同的国家，E-钙粘蛋白种系突变的频率尚未得到很好的确定。本研究的目的是评估来自低风险和高风险地区的胃癌中CDH 1种系突变的全球频率。使用MEDLINE检索的英文文章（1998年至2011年）。检索词包括CDH 1、E-钙粘蛋白、生殖系突变、胃癌、遗传性、家族性和弥漫性组织型。该研究包括在胃癌患者中鉴定的所有E-钙粘蛋白种系突变;排除了在其他肿瘤中报告的体细胞突变和种系突变。本研究的方法按照“PRISMA系统综述和荟萃分析报告声明”进行安排。各国被划分为胃癌发病率低风险或中/高风险地区。统计分析CDH 1基因突变频率与胃癌发病地区的相关性。共发现122个E-cadherin种系突变;大多数（87.5%）发生在来自低风险地区的胃癌中。在高风险地区，我们确定了16个突变，其中错义突变占主导地位。(68.8%).我们证实了突变频率与胃癌风险区域之间的显著相关性（p < 0.001：低风险区域与中/高风险区域中的总体识别突变）。在胃癌低风险地区进行的E-钙粘蛋白基因筛查发现了更高频率的CDH 1种系突变。这些数据可能为胃癌预防试验开辟新的方法;在提出CDH 1基因筛查的先证者候选人之前，应考虑地理变异性以及家族史。
The frequency of E-cadherin germline mutations in countries with different incidence rates for gastric carcinoma has not been well established. The goal of this study was to assess the worldwide frequency of CDH1 germline mutations in gastric cancers coming from low- and high-risk areas. English articles using MEDLINE access (from 1998 to 2011). Search terms included CDH1, E-cadherin, germline mutation, gastric cancer, hereditary, familial and diffuse histotype. The study included all E-cadherin germline mutations identified in gastric cancer patients; somatic mutations and germline mutations reported in other tumors were excluded. The method of this study was scheduled in accordance with the "PRISMA statement for reporting systematic reviews and meta-analyses". Countries were classified as low- or middle/high risk-areas for gastric carcinoma incidence. Statistical analysis was performed to correlate the CDH1 mutation frequency with gastric cancer incidence areas. A total of 122 E-cadherin germline mutations have been identified; the majority (87.5%) occurred in gastric cancers coming from low-risk areas. In high-risk areas, we identified 16 mutations in which missense mutations were predominant. (68.8%). We verified a significant association between the mutation frequency and the gastric cancer risk area (p < 0.001: overall identified mutations in low- vs. middle/high-risk areas). E-cadherin genetic screenings performed in low-risk areas for gastric cancer identified a higher frequency of CDH1 germline mutations. This data could open new approaches in the gastric cancer prevention test; before proposing a proband candidate for the CDH1 genetic screening, geographic variability, alongside the family history should be considered.
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影响因子：
3.8
作者：
Corso, G.;Roviello, F.;Suriano, G.
通讯作者：
Suriano, G.
影响因子：
4
作者：
Keller, G;Vogelsang, H;Höfler, H
通讯作者：
Höfler, H
影响因子：
3.9
作者：
Humar, B;Toro, T;Guilford, P
通讯作者：
Guilford, P
影响因子：
2.2
作者：
Jakubowska, Anna;Lawniczak, Malgorzata;Lubinski, Jan
通讯作者：
Lubinski, Jan
影响因子：
6
作者：
Keller, G;Vogelsang, H;Höfler, H
通讯作者：
Höfler, H