Article
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 - 1 Feb 2025
Agaoglu Nihat Bugra, Ng Ozden Hatirnaz, Zemheri Itir Ebru, Unal Busra, Gerenli Nelgin, Tosun Ilkay, Yazıcı Hulya, Ozbek Ugur, Kamihara Junne, Rana Huma Q
Abstract excerpt
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...
Topics
- Humans
- Stomach Neoplasms
- Male
- Cadherins
- Antigens, CD
- Adolescent
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Pedigree
- Child
- Female
