Managing <scp><i>CDH1</i></scp> Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer

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.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2024-10-11
DOI
https://doi.org/10.1002/ajmg.a.63897
Citations
1
Primary Topic
Genetic factors in colorectal cancer
Type
article
Field-Weighted Citation Impact
0.42
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article

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

Junne Kamihara, Nelgin Gerenlı, Hülya Yazıcı, İlkay Tosun et al.
1 citations
American Journal of Medical Genetics Part A
Genetic factors in colorectal cancer
0.42
article

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

Junne Kamihara, Nelgin Gerenlı, Hülya Yazıcı, İlkay Tosun, Busra Unal, Uğur Özbek, Nihat Buğra Ağaoğlu, Özden Hatırnaz Ng, Ebru Zemheri, Huma Q. Rana
article en
1 citations

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.

American Journal of Medical Genetics Part AVol. 197(2)
Boston Children's Hospital (US), Izmir University (TR), Harvard University (US), Acıbadem University (TR), Ümraniye Eğitim ve Araştırma Hastanesi (TR), Dana-Farber Cancer Institute (US), Institute of Clinical Cancer Research (DE), Kent Hastanesi (TR), Cancer Genetics (United States) (US), Acıbadem Adana Hospital (TR), Istanbul Health and Technology University, Istanbul University (TR)
Openalex Percentile: Top 34%
Genetic factors in colorectal cancer
0.42
DOIOpen Access PDFOpenAlex
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