Clinical features and cancer risk in families with pathogenic CDH1 variants irrespective of clinical criteria

Individuals with mutations in the CDH1 gene have the inherited hereditary diffuse gastric cancer syndrome. This study is the first report on cancer risk in patients with CDH1 mutations that were not previously selected from families highly suspicious for this syndrome. The results indicate that gastric cancer risks are lower and age at diagnosis higher than previously reported. Furthermore, a substantial proportion of families do not present with any gastric cancers and their cancers are limited to breast. Thus, clinical criteria for CDH1 testing should be widened, including breast cancer families only, and a consideration for delayed prophylactic stomach removal should be evaluated. (By Dr. Xavier Llor, https://jmg.bmj.com/content/early/2019/07/11/jmedgenet-2019-105991 )

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