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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 Oncologia Colorectal cancer Oncology |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.3390/jcm9061954 |
It is part of: | Journal of Clinical Medicine, 2020, vol. 9, num. 6 |
URI: | http://hdl.handle.net/2445/171753 |
Related resource: | https://doi.org/10.3390/jcm9061954 |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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