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Title: Dominantly inherited hereditary nonpolyposis colorectal cancer not caused by MMR genes
Author: Terradas, Mariona
Capellá, G. (Gabriel)
Valle, Laura
Keywords: Càncer colorectal
Colorectal cancer
Issue Date: 1-Jun-2020
Publisher: MDPI
Abstract: 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 inRPS20may be convincedly linked to hereditary CRC. Nevertheless, accumulated evidence supports the involvement in the CRC predisposition of other genes, includingMRE11,BARD1,POT1,BUB1B,POLE2,BRF1,IL12RB1,PTPN12, or the epigenetic alteration ofPTPRJ. 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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It is part of: Journal of Clinical Medicine, 2020, vol. 9, num. 6
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Appears in Collections:Articles publicats en revistes (Ciències Clíniques)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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