{"title":"Managing CDH1 Cancer Risks in a Child: Complex Decision Making in a Family With Hereditary Diffuse Gastric Cancer","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","doi":"10.1002/ajmg.a.63897","DOIUrl":null,"url":null,"abstract":"<div>\n \n <p>Germline pathogenic variants (PVs) in <i>CDH1</i> cause hereditary diffuse gastric cancer. The management of <i>CDH1</i> 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 <i>CDH1</i> 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 <i>CDH1</i> PV, presented a challenge to both clinicians and the family. Herein, we present the complexities of managing gastric cancer risk when a <i>CDH1</i> PV is identified in childhood in the setting of a family history of early-onset gastric cancer.</p>\n </div>","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":"197 2","pages":""},"PeriodicalIF":1.7000,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American Journal of Medical Genetics Part A","FirstCategoryId":"99","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63897","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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