Frequency of Germline Mutations in Non-Gastric Cancers.

Cancers (Basel)

Division of Breast Surgery, European Institute of Oncology (IEO), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy.

Published: May 2021

Hereditary Diffuse Gastric Cancer (HDGC) is a complex inherited syndrome caused by germline mutations. DGC is the hallmark cancer of this genetic predisposition, but several other cancers are associated with these mutations. In this review, we revised all studies reporting 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 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 mutation affects the extracellular domain. Our data suggest that genetic testing should be considered also in other cancers, especially breast tumors.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151827PMC
http://dx.doi.org/10.3390/cancers13102321DOI Listing

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