Background: The frequency of E-cadherin germline mutations in countries with different incidence rates for gastric\r\ncarcinoma has not been well established. The goal of this study was to assess the worldwide frequency of CDH1\r\ngermline mutations in gastric cancers coming from low- and high-risk areas.\r\nMethods: English articles using MEDLINE access (from 1998 to 2011). Search terms included CDH1, E-cadherin,\r\ngermline mutation, gastric cancer, hereditary, familial and diffuse histotype.\r\nThe study included all E-cadherin germline mutations identified in gastric cancer patients; somatic mutations and\r\ngermline mutations reported in other tumors were excluded.\r\nThe method of this study was scheduled in accordance with the ââ?¬Å?PRISMA statement for reporting systematic\r\nreviews and meta-analysesââ?¬Â. Countries were classified as low- or middle/high risk-areas for gastric carcinoma\r\nincidence. Statistical analysis was performed to correlate the CDH1 mutation frequency with gastric cancer\r\nincidence areas.\r\nResults: A total of 122 E-cadherin germline mutations have been identified; the majority (87.5%) occurred in\r\ngastric cancers coming from low-risk areas. In high-risk areas, we identified 16 mutations in which missense\r\nmutations were predominant. (68.8%). We verified a significant association between the mutation frequency and\r\nthe gastric cancer risk area (p < 0.001: overall identified mutations in low- vs. middle/high-risk areas).\r\nConclusions: E-cadherin genetic screenings performed in low-risk areas for gastric cancer identified a higher\r\nfrequency of CDH1 germline mutations. This data could open new approaches in the gastric cancer prevention\r\ntest; before proposing a proband candidate for the CDH1 genetic screening, geographic variability, alongside the\r\nfamily history should be considered.
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