Managing CDH1 cancer risks in a child: Complex decision making in a family with hereditary diffuse gastric cancer

Araştırma projeleri

Organizasyon Birimleri

Dergi sayısı

Özet

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.

Açıklama

Anahtar Kelimeler

CDH1, Adolescent, Diffuse Gastric Cancer, Pediatric, Young Adult

Kaynak

American Journal of Medical Genetics Part A

WoS Q Değeri

Q3

Scopus Q Değeri

Q3

Cilt

197

Sayı

2

Künye

Ağaoğlu, N. B., Hatırnaz Ng, Ö., Zemheri, İ. E., Ünal, B., Gerenli, N., Tosun, İ., Yazıcı, H., Özbek, U., Kamihara, J., & Rana, H. Q. (2025). Managing CDH1 cancer risks in a child: Complex decision making in a family with hereditary diffuse gastric cancer. American Journal of Medical Genetics Part A, 197(2), pp. 1-5. https://doi.org/10.1002/ajmg.a.63897