Frequency of CDH1 Germline Mutations in Non-Gastric Cancers.

作者: Carlo La Vecchia , Francesca Magnoni , Paolo Veronesi , Nickolas Peradze , Giovanni Corso

DOI: 10.3390/CANCERS13102321

关键词: Breast cancerGenetic testingMissense mutationHereditary diffuse gastric cancerMutationGermline mutationCancer researchGenetic predispositionMedicineCancer

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.

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