Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters

Hereditary diffuse gastric cancer is a familial form of poorly differentiated signet ring cell carcinoma (SRCC) caused by a mutation in the CDH1/E-cadherin gene-mediating cell adhesion. CDH1 mutations are inherited in an autosomal dominant fashion and exhibit a high level of penetrance. SRCC diagnos...

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Detalles Bibliográficos
Autores principales: Falgout, Lacey, Gensler, Lawrence L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10356119/
https://www.ncbi.nlm.nih.gov/pubmed/37476473
http://dx.doi.org/10.14309/crj.0000000000001100
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author Falgout, Lacey
Gensler, Lawrence L.
author_facet Falgout, Lacey
Gensler, Lawrence L.
author_sort Falgout, Lacey
collection PubMed
description Hereditary diffuse gastric cancer is a familial form of poorly differentiated signet ring cell carcinoma (SRCC) caused by a mutation in the CDH1/E-cadherin gene-mediating cell adhesion. CDH1 mutations are inherited in an autosomal dominant fashion and exhibit a high level of penetrance. SRCC diagnosis is exceedingly rare in the pediatric population. We report a case of SRCC in 2 sisters (10 and 15 years) and their father (41 years).
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spelling pubmed-103561192023-07-20 Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters Falgout, Lacey Gensler, Lawrence L. ACG Case Rep J Case Report Hereditary diffuse gastric cancer is a familial form of poorly differentiated signet ring cell carcinoma (SRCC) caused by a mutation in the CDH1/E-cadherin gene-mediating cell adhesion. CDH1 mutations are inherited in an autosomal dominant fashion and exhibit a high level of penetrance. SRCC diagnosis is exceedingly rare in the pediatric population. We report a case of SRCC in 2 sisters (10 and 15 years) and their father (41 years). Wolters Kluwer 2023-07-19 /pmc/articles/PMC10356119/ /pubmed/37476473 http://dx.doi.org/10.14309/crj.0000000000001100 Text en © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of The American College of Gastroenterology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Case Report
Falgout, Lacey
Gensler, Lawrence L.
Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters
title Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters
title_full Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters
title_fullStr Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters
title_full_unstemmed Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters
title_short Two Pediatric Cases Within a Familial Cluster and Hereditary Diffuse Gastric Carcinoma: A Tale of 2 Sisters
title_sort two pediatric cases within a familial cluster and hereditary diffuse gastric carcinoma: a tale of 2 sisters
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10356119/
https://www.ncbi.nlm.nih.gov/pubmed/37476473
http://dx.doi.org/10.14309/crj.0000000000001100
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