Giovanni Corso, Elena Marino, Cristina Zanzottera, Carla Oliveira, Loris Bernard, Debora Macis, Joana Figueiredo, Joana Pereira, Patrícia Carneiro, Giulia Massari, Massimo Barberis, Alessandra Margherita De Scalzi, Sergio Vincenzo Taormina, Elham Sajjadi, Claudia Sangalli, Sara Gandini, Oriana D'Ecclesiis, Cristina Maria Trovato, Anna Rotili, Filippo Pesapane, Luca Nicosia, Carlo La Vecchia, Viviana Galimberti, Elena Guerini-Rocco, Bernardo Bonanni, Paolo Veronesi
IMPORTANCE: Pathogenic or likely pathogenic (P/LP) germline CDH1 variants are associated with risk for diffuse gastric cancer and lobular breast cancer (LBC) in the so-called hereditary diffuse gastric cancer (HDGC) syndrome. However, in some circumstances, LBC can be the first manifestation of this syndrome in the absence of diffuse gastric cancer manifestation. OBJECTIVES: To evaluate the frequency of germline CDH1 variants in women with the hereditary LBC (HLBC) phenotype, somatic CDH1 gene inactivation in germline CDH1 variant carriers' tumor samples, and the association of genetic profiles with clinical-pathological data and survival...
April 1, 2024: JAMA Network Open