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E-cadherin is recognised as a tumour suppressor gene, and it is well established that <jats:italic>CDH1<\/jats:italic> genetic alterations cause diffuse gastric cancer and lobular breast cancer\u2014the foremost manifestations of the hereditary diffuse gastric cancer syndrome. However, in the last decade, evidence has emerged demonstrating that <jats:italic>CDH1<\/jats:italic> mutations can be associated with lobular breast cancer and\/or several congenital abnormalities, without any personal or family history of diffuse gastric cancer. To date, no genotype\u2013phenotype correlations have been observed. Remarkably, there are reports of mutations affecting the same nucleotide but inducing distinct clinical outcomes. In this review, we bring together a comprehensive analysis of <jats:italic>CDH1<\/jats:italic>-associated disorders and germline alterations found in each trait, providing important insights into the biological mechanisms underlying E-cadherin\u2019s pleiotropic effects. 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