A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists...

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Detalles Bibliográficos
Autores principales: Rengifo-Cam, William, Jasperson, Kory, Garrido-Laguna, Ignacio, Colman, Howard, Scaife, Courtney, Samowitz, Wade, Samadder, N. Jewel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American College of Gastroenterology 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340720/
https://www.ncbi.nlm.nih.gov/pubmed/28286799
http://dx.doi.org/10.14309/crj.2017.34
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author Rengifo-Cam, William
Jasperson, Kory
Garrido-Laguna, Ignacio
Colman, Howard
Scaife, Courtney
Samowitz, Wade
Samadder, N. Jewel
author_facet Rengifo-Cam, William
Jasperson, Kory
Garrido-Laguna, Ignacio
Colman, Howard
Scaife, Courtney
Samowitz, Wade
Samadder, N. Jewel
author_sort Rengifo-Cam, William
collection PubMed
description Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer.
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spelling pubmed-53407202017-03-10 A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency Rengifo-Cam, William Jasperson, Kory Garrido-Laguna, Ignacio Colman, Howard Scaife, Courtney Samowitz, Wade Samadder, N. Jewel ACG Case Rep J Case Report Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer. American College of Gastroenterology 2017-03-01 /pmc/articles/PMC5340720/ /pubmed/28286799 http://dx.doi.org/10.14309/crj.2017.34 Text en Copyright © Rengifo-Cam et al. This is an open-access article. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Case Report
Rengifo-Cam, William
Jasperson, Kory
Garrido-Laguna, Ignacio
Colman, Howard
Scaife, Courtney
Samowitz, Wade
Samadder, N. Jewel
A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency
title A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency
title_full A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency
title_fullStr A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency
title_full_unstemmed A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency
title_short A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency
title_sort 30-year-old man with three primary malignancies: a case of constitutional mismatch repair deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340720/
https://www.ncbi.nlm.nih.gov/pubmed/28286799
http://dx.doi.org/10.14309/crj.2017.34
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