作者: Carlo La Vecchia , Francesca Magnoni , Paolo Veronesi , Nickolas Peradze , Giovanni Corso
关键词: Breast cancer 、 Genetic testing 、 Missense mutation 、 Hereditary diffuse gastric cancer 、 Mutation 、 Germline mutation 、 Cancer research 、 Genetic predisposition 、 Medicine 、 Cancer
摘要: Hereditary Diffuse Gastric Cancer (HDGC) is a complex inherited syndrome caused by CDH1 germline mutations. DGC the hallmark cancer of this genetic predisposition, but several other cancers are associated with these In review, we revised all studies reporting mutations in non-GC patients. The selected included: (a) families aggregating GC and cancers, both, (b) presenting only non-gastric tumors association. Among tumors, our results show that most frequently identified breast cancer. frequency missense higher group, as age at diagnosis group. Moreover, predominant mutation affects extracellular domain. Our data suggest testing should be considered also especially tumors.