Work

Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer

Year: 2024

Type: article

Abstract: 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.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.63897

Authors: Nihat Bugra Agaoglu, Ozden Hatirnaz Ng, Itir Ebru Zemheri, Busra Unal, Nelgin Gerenli, Ilkay Tosun, Hulya Yazıcı, Ugur Ozbek, Junne Kamihara, Huma Q. Rana

Institutions: Ümraniye Eğitim ve Araştırma Hastanesi, Dana-Farber Cancer Institute, Institute of Clinical Cancer Research, Acıbadem University, Istanbul Health and Technology University, Istanbul University, Izmir Biomedicine and Genome Center, Boston Children's Hospital, Harvard University

Language: English

Topic: Gastric Cancer Management and Outcomes

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4403337978

FWCI: 0.259

Cites: 32

Cited by: 1

Related to: 10