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

Sayı

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. (2024). 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. https://doi.org/10.1002/ajmg.a.63897