Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect.

摘要: Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management LBC (HLBC). The team has established criteria for screening results' interpretation, created consensus guidelines regarding counselling, surveillance imaging techniques, clinicopathological findings, psychological decisional support, as well prophylactic surgery plastic reconstruction. Based on a review current evidence identification HLBC cases/families, testing is recommended patients fulfilling following criteria: (A) bilateral or without family history LBC, age at onset <50 years, (B) unilateral <45 years. In asymptomatic mutant carriers, examination, yearly mammography, contrast-enhanced MRI ultrasonography (US) 6-month interval between US should be implemented first approach. selected personal history, mutations, mastectomy could an integrative group experts. Psychodecisional support also plays pivotal role individuals alterations. Ultimately, definition specific protocol ongoing coordinated crucial effective early detection LBC.