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Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/171753
Dominantly inherited hereditary nonpolyposis colorectal cancer not caused by MMR genes
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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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TERRADAS, Mariona, CAPELLÁ, G. (Gabriel) and VALLE, Laura. Dominantly inherited hereditary nonpolyposis colorectal cancer not caused by MMR genes. Journal of Clinical Medicine. 2020. Vol. 9, num. 6. [consulted: 16 of August of 2026]. Available at: https://hdl.handle.net/2445/171753