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Managing CDH1 cancer risks in a child: Complex decision making in a family with hereditary diffuse gastric cancer
(Wiley, 2025) Ağaoğlu, Nihat Buğra; Hatırnaz Ng, Özden; Zemheri, İtir Ebru; Ünal, Büşra; Gerenli, Nelgin; Tosun, İlkay; Yazıcı, Hülya; Özbek, Uğur; Kamihara, Junne; Rana, Huma Q.
Germline pathogenic variants (PVs) in CDH1 cause hereditary diffuse gastric cancer. The management of CDH1 cases with a positive family history includes total prophylactic gastrectomy or intensive surveillance. In this study, we report a 16-year-old boy with intramucosal gastric signet ring cells in the setting of a germline CDH1 PV and a family history of early-onset gastric cancer. The approach to managing both the proband and their 9-year-old sister, who also had the CDH1 PV, presented a challenge to both clinicians and the family. Herein, we present the complexities of managing gastric cancer risk when a CDH1 PV is identified in childhood in the setting of a family history of early-onset gastric cancer.