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Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes

In the past two decades, multiple studies have been undertaken to elucidate the genetic cause of the predisposition to mismatch repair (MMR)-proficient nonpolyposis colorectal cancer (CRC). Here, we present the proposed candidate genes according to their involvement in specific pathways considered r...

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Detalles Bibliográficos
Autores principales: Terradas, Mariona, Capellá, Gabriel, Valle, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7355797/
https://www.ncbi.nlm.nih.gov/pubmed/32585810
http://dx.doi.org/10.3390/jcm9061954
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author Terradas, Mariona
Capellá, Gabriel
Valle, Laura
author_facet Terradas, Mariona
Capellá, Gabriel
Valle, Laura
author_sort Terradas, Mariona
collection PubMed
description In the past two decades, multiple studies have been undertaken to elucidate the genetic cause of the predisposition to mismatch repair (MMR)-proficient nonpolyposis colorectal cancer (CRC). Here, we present the proposed candidate genes according to their involvement in specific pathways considered relevant in hereditary CRC and/or colorectal carcinogenesis. To date, only pathogenic variants in RPS20 may be convincedly linked to hereditary CRC. Nevertheless, accumulated evidence supports the involvement in the CRC predisposition of other genes, including MRE11, BARD1, POT1, BUB1B, POLE2, BRF1, IL12RB1, PTPN12, or the epigenetic alteration of PTPRJ. The contribution of the identified candidate genes to familial/early onset MMR-proficient nonpolyposis CRC, if any, is extremely small, suggesting that other factors, such as the accumulation of low risk CRC alleles, shared environmental exposures, and/or gene–environmental interactions, may explain the missing heritability in CRC.
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spelling pubmed-73557972020-07-23 Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes Terradas, Mariona Capellá, Gabriel Valle, Laura J Clin Med Review In the past two decades, multiple studies have been undertaken to elucidate the genetic cause of the predisposition to mismatch repair (MMR)-proficient nonpolyposis colorectal cancer (CRC). Here, we present the proposed candidate genes according to their involvement in specific pathways considered relevant in hereditary CRC and/or colorectal carcinogenesis. To date, only pathogenic variants in RPS20 may be convincedly linked to hereditary CRC. Nevertheless, accumulated evidence supports the involvement in the CRC predisposition of other genes, including MRE11, BARD1, POT1, BUB1B, POLE2, BRF1, IL12RB1, PTPN12, or the epigenetic alteration of PTPRJ. The contribution of the identified candidate genes to familial/early onset MMR-proficient nonpolyposis CRC, if any, is extremely small, suggesting that other factors, such as the accumulation of low risk CRC alleles, shared environmental exposures, and/or gene–environmental interactions, may explain the missing heritability in CRC. MDPI 2020-06-23 /pmc/articles/PMC7355797/ /pubmed/32585810 http://dx.doi.org/10.3390/jcm9061954 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Terradas, Mariona
Capellá, Gabriel
Valle, Laura
Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes
title Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes
title_full Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes
title_fullStr Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes
title_full_unstemmed Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes
title_short Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes
title_sort dominantly inherited hereditary nonpolyposis colorectal cancer not caused by mmr genes
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7355797/
https://www.ncbi.nlm.nih.gov/pubmed/32585810
http://dx.doi.org/10.3390/jcm9061954
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