TY - JOUR T1 - Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect JF - Journal of Medical Genetics JO - J Med Genet SP - 431 LP - 441 DO - 10.1136/jmedgenet-2018-105337 VL - 55 IS - 7 AU - Giovanni Corso AU - Joana Figueiredo AU - Carlo La Vecchia AU - Paolo Veronesi AU - Gabriella Pravettoni AU - Debora Macis AU - Rachid Karam AU - Roberto Lo Gullo AU - Elena Provenzano AU - Antonio Toesca AU - Ketti Mazzocco AU - Fátima Carneiro AU - Raquel Seruca AU - Soraia Melo AU - Fernando Schmitt AU - Franco Roviello AU - Alessandra Margherita De Scalzi AU - Mattia Intra AU - Irene Feroce AU - Elisa De Camilli AU - Maria Grazia Villardita AU - Chiara Trentin AU - Francesca De Lorenzi AU - Bernardo Bonanni AU - Viviana Galimberti Y1 - 2018/07/01 UR - http://jmg.bmj.com/content/55/7/431.abstract N2 - Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results’ interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction. Based on a review of current evidence for the identification of HLBC cases/families, CDH1 genetic testing is recommended in patients fulfilling the following criteria: (A) bilateral LBC with or without family history of LBC, with age at onset <50 years, and (B) unilateral LBC with family history of LBC, with age at onset <45 years. In CDH1 asymptomatic mutant carriers, breast surveillance with clinical examination, yearly mammography, contrast-enhanced breast MRI and breast ultrasonography (US) with 6-month interval between the US and the MRI should be implemented as a first approach. In selected cases with personal history, family history of LBC and CDH1 mutations, prophylactic mastectomy could be discussed with an integrative group of clinical experts. Psychodecisional support also plays a pivotal role in the management of individuals with or without CDH1 germline alterations. Ultimately, the definition of a specific protocol for CDH1 genetic screening and ongoing coordinated management of patients with HLBC is crucial for the effective surveillance and early detection of LBC. ER -