CDH1 germline mutations. DGC is the hallmark cancer of this genetic predisposition, but several other cancers are associated with these CDH1 mutations. In this review, we revised all studies reporting CDH1 mutations in non-GC patients. The selected studies included: (a) families aggregating with GC and other cancers, both, and (b) families presenting only non-gastric tumors association. Among non-gastric tumors, our results show that CDH1 mutations are most frequently identified in breast cancer. The frequency of missense mutations is higher in the non-GC group, as the age at diagnosis in this group. Moreover, the predominant CDH1 mutation affects the extracellular domain. Our data suggest that CDH1 genetic testing should be considered also in other cancers, especially breast tumors.

Frequency of CDH1 Germline Mutations in Non-Gastric Cancers / G. Massari, F. Magnoni, G. Favia, N. Peradze, P. Veronesi, C. La Vecchia, G. Corso. - In: CANCERS. - ISSN 2072-6694. - 13:10(2021 May 12), pp. 2321.1-2321.8. [10.3390/cancers13102321]

Frequency of CDH1 Germline Mutations in Non-Gastric Cancers

P. Veronesi;C. La Vecchia
Penultimo
;
G. Corso
Ultimo
2021

Abstract

CDH1 germline mutations. DGC is the hallmark cancer of this genetic predisposition, but several other cancers are associated with these CDH1 mutations. In this review, we revised all studies reporting CDH1 mutations in non-GC patients. The selected studies included: (a) families aggregating with GC and other cancers, both, and (b) families presenting only non-gastric tumors association. Among non-gastric tumors, our results show that CDH1 mutations are most frequently identified in breast cancer. The frequency of missense mutations is higher in the non-GC group, as the age at diagnosis in this group. Moreover, the predominant CDH1 mutation affects the extracellular domain. Our data suggest that CDH1 genetic testing should be considered also in other cancers, especially breast tumors.
CDH1 mutation; diffuse gastric cancer; Lobular breast cancer; hereditary cancer;
Settore MED/01 - Statistica Medica
Settore MED/06 - Oncologia Medica
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/843257
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