Corso Giovanni, Tagliaferri Valentina, Massari Giulia, Cioffi Antonio, Rossi Elisabetta Maria Cristina, Veronesi Paolo, Magnoni Francesca
Division of Breast Surgery, European Institute of Oncology, IRCCS, Milan, Italy.
Department of Oncology and Hemato-Oncology, Faculty of Medicine, University of Milan, Milan, Italy.
Fam Cancer. 2023 Apr;22(2):187-192. doi: 10.1007/s10689-022-00309-w. Epub 2022 Jul 27.
The global distribution of germline CDH1 mutations in hereditary diffuse gastric cancer families, is highly heterogenous. The aim of this study was to determine if there is any geographic clustering of CDH1 mutations in families with the hereditary diffuse gastric cancer syndrome. Data from 1998 to 2021 were collected systematically according to the PRISMA guidelines. 571 germline CDH1 mutations were recorded worldwide, with 387 (67.8%) of them reported in 108 families. The largest clusters of CDH1 mutations were identified in central Europe, north America, northern Europe, New Zealand (Māori), and south America. A high penetrance risk for GC development was observed for c.1008G > T in New Zealand (Māori), c.1565 + 2insT in northern Europe, c.1901C > T in Portugal, and c.1003C > T in the USA. Our observations are consistent with a specific local clustering of some recurrent CDH1 mutations within specific countries.
遗传性弥漫性胃癌家族中种系CDH1突变的全球分布高度异质。本研究的目的是确定遗传性弥漫性胃癌综合征家族中CDH1突变是否存在任何地理聚集现象。根据PRISMA指南，系统收集了1998年至2021年的数据。全球记录了571种种系CDH1突变，其中387种（67.8%）在108个家族中报告。CDH1突变的最大聚集区在中欧、北美、北欧、新西兰（毛利人）和南美。在新西兰（毛利人），c.1008G>T；在北欧，c.1565+2insT；在葡萄牙，c.1901C>T；在美国，c.1003C>T，观察到胃癌发生的高外显率风险。我们的观察结果与某些复发性CDH1突变在特定国家内的特定局部聚集一致。
