Terradas, MarionaCapellá, G. (Gabriel)Valle, Laura2020-11-042020-11-042020-06-01https://hdl.handle.net/2445/171753In 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.19 p.application/pdfengcc by (c) Terradas et al., 2020http://creativecommons.org/licenses/by/3.0/es/Càncer colorectalOncologiaColorectal cancerOncologyinfo:eu-repo/semantics/article2020-11-03info:eu-repo/semantics/openAccess32585810