Corso Giovanni, Comelli Giovanni, Veronesi Paolo, Bianchi Beatrice, Petitto Salvatore, Polizzi Andrea, Girardi Antonia, Cioffi Antonio, La Vecchia Carlo, Bagnardi Vincenzo, Magnoni Francesca
Division of Breast Surgery, European Institute of Oncology (IEO), IRCCS, Via Ripamonti, 435, 20141, Milan, Italy.
Department of Oncology and Hemato-Oncology, University of Milan, 20122, Milan, Italy.
J Cancer Res Clin Oncol. 2023 Nov;149(17):16147-16155. doi: 10.1007/s00432-023-05318-5. Epub 2023 Aug 28.
The objective of this study was to determine the male and female frequency of diffuse gastric cancer (DGC), the age at diagnosis, and the country of origin in a selected population with germline CDH1 variants from families with the hereditary diffuse gastric cancer (HDGC) syndrome.
Relevant literature dating from 1998 to 2021 was systematically searched for data on CDH1 gene. The Wilcoxon rank sum test and the Chi-square test were used to estimate if the difference observed between patients with gastric cancer (GC) and unaffected individuals was significant.
We identified 80 families fulfilling the established clinical criteria for HDGC CDH1 genetic screening. There were more women than men with DGC and germline CDH1 variant (65.5%). Stratifying the age at diagnosis, we identified an association between DGC, positive CDH1 screening and young women (≤ 40 years) (p = 0.015). The mean age at diagnosis was 39.6 ys for women and 42.5 ys for men. There was an association between CDH1 carrier status and DGC (p = 0.021).
Young women carrying germline CDH1 variants with DGC are comparatively frequent in the HDGC syndrome, and potentially at higher risk to develop DGC particularly in low-incidence areas for GC.
本研究的目的是确定遗传性弥漫性胃癌（HDGC）综合征家庭中携带种系CDH1变异的特定人群中弥漫性胃癌（DGC）的男性和女性发病率、诊断年龄以及起源国家。
系统检索了1998年至2021年的相关文献，以获取CDH1基因的数据。采用Wilcoxon秩和检验和卡方检验来评估胃癌（GC）患者与未受影响个体之间观察到的差异是否显著。
我们确定了80个符合HDGC CDH1基因筛查既定临床标准的家庭。患有DGC且携带种系CDH1变异的女性多于男性（65.5%）。按诊断年龄分层后，我们发现DGC、CDH1筛查阳性与年轻女性（≤40岁）之间存在关联（p = 0.015）。女性的平均诊断年龄为39.6岁，男性为42.5岁。CDH1携带者状态与DGC之间存在关联（p = 0.021）。
在HDGC综合征中，携带种系CDH1变异且患有DGC的年轻女性相对较为常见，尤其是在GC低发地区，她们患DGC的风险可能更高。
