RT Journal Article
SR Electronic
T1 Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 431
OP 441
DO 10.1136/jmedgenet-2018-105337
VO 55
IS 7
A1 Corso, Giovanni
A1 Figueiredo, Joana
A1 La Vecchia, Carlo
A1 Veronesi, Paolo
A1 Pravettoni, Gabriella
A1 Macis, Debora
A1 Karam, Rachid
A1 Lo Gullo, Roberto
A1 Provenzano, Elena
A1 Toesca, Antonio
A1 Mazzocco, Ketti
A1 Carneiro, Fátima
A1 Seruca, Raquel
A1 Melo, Soraia
A1 Schmitt, Fernando
A1 Roviello, Franco
A1 De Scalzi, Alessandra Margherita
A1 Intra, Mattia
A1 Feroce, Irene
A1 De Camilli, Elisa
A1 Villardita, Maria Grazia
A1 Trentin, Chiara
A1 De Lorenzi, Francesca
A1 Bonanni, Bernardo
A1 Galimberti, Viviana
YR 2018
UL http://jmg.bmj.com/content/55/7/431.abstract
AB 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.