CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study

摘要: Introduction CDH1 predisposes primarily to diffuse gastric cancer (DGC). Multiple DGC cases in a family, at young age an individual or the combination of andlobular breast (LBC) family define hereditary syndrome (HDGC), and testing for germline mutations is warranted HDGC. Methods results We report all index from Ile-de-France which mutation has been identified. Out 18 cases, 7 do not fulfil HDGC-defining criteria. Three them are women who presented initially with bilateral LBC below 50, without personal history DGC, subsequently developed symptomatic DGC. Discussion Our series carriers largest date demonstrates that might be first manifestation A multiple LBCs age, even should prompt screening. It paramount identify early, so they can benefit prophylactic gastrectomy before develop symptomatic, highly lethal recommend revision criteria propose consideration name ‘Hereditary Diffuse Gastric Lobular Breast Cancer’ instead