Article
CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.
JAMA network open - 1 Apr 2024
Corso Giovanni, Marino Elena, Zanzottera Cristina, Oliveira Carla, Bernard Loris, Macis Debora, Figueiredo Joana, Pereira Joana, Carneiro Patrícia, Massari Giulia, Barberis Massimo, De Scalzi Alessandra Margherita, Taormina Sergio Vincenzo, Sajjadi Elham, Sangalli Claudia, Gandini Sara, D'Ecclesiis Oriana, Trovato Cristina Maria, Rotili Anna, Pesapane Filippo, Nicosia Luca, La Vecchia Carlo, Galimberti Viviana, Guerini-Rocco Elena, Bonanni Bernardo, Veronesi Paolo
Abstract excerpt
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...
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