Massari Giulia, Magnoni Francesca, Favia Giorgio, Peradze Nickolas, Veronesi Paolo, La Vecchia Carlo, Corso Giovanni
Division of Breast Surgery, European Institute of Oncology (IEO), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), 20141 Milan, Italy.
Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy.
Cancers (Basel). 2021 May 12;13(10):2321. doi: 10.3390/cancers13102321.
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.
遗传性弥漫性胃癌（HDGC）是一种由种系突变引起的复杂遗传综合征。弥漫性胃癌是这种遗传易感性的标志性癌症，但其他几种癌症也与这些突变有关。在本综述中，我们修订了所有报告非胃癌患者突变的研究。所选研究包括：（a）胃癌和其他癌症聚集的家族，以及（b）仅呈现非胃肿瘤关联的家族。在非胃肿瘤中，我们的结果表明，突变最常见于乳腺癌。错义突变的频率在非胃癌组中更高，与该组的诊断年龄一样。此外，主要突变影响细胞外结构域。我们的数据表明，在其他癌症，尤其是乳腺肿瘤中也应考虑进行基因检测。
