CDH1 germline mutations in healthy individuals from families with the hereditary diffuse gastric cancer syndrome

Hereditary diffuse gastric cancer is an inherited cancer predisposition syndrome associated with CDH1 germline mutations. To date, more than 500 mutations are described from different countries, with a particular higher mutation frequency in countries with low incidence for gastric cancer. The distribution of germline mutations sub-types in this inherited cancer susceptibility is rather heterogeneous: missense variants represent about 23.3% of the cases, followed by deletions (22.6%) and non-sense (22.2%), and splicing alterations (21.5%). Insertions are less frequently described, constituting 10.3% of all CDH1 mutations. If we consider CDH1 germline mutations identified in healthy individuals respecting to subjects affected by gastric tumor, we observed a higher frequency of splicing and missense mutations in healthy individuals rather than gastric cancer patients, and these mutations seem to be associated with a lower risk for developing gastric cancer. (By Dr. Giovanni Corso, https://jmg.bmj.com/content/early/2021/12/23/jmedgenet-2021-108226 )

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