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Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/178672
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
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Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop the disease. In this study, we sequenced 20 early-onset CRC patients to discover novel genetic variants that could be linked to the prompt disease development. Eight genes, CHAD, CHD1L, ERCC6, IGTB7, PTPN13, SPATA20, TDG and TGS1, were selected and re-sequenced in a further 304 early onset CRC patients to search for rare, high-impact variants. Although we found a recurring truncating variant in the TDG gene shared by two independent patients, the results obtained did not help consolidate any of the candidates as promising CRC predisposing genes. However, we found that potential risk alleles in our extended list of candidate variants have a tendency to appear at higher numbers in younger cases. This supports the idea that CRC onset may be oligogenic in nature and may show molecular heterogeneity. Further, larger and robust studies are thus needed to unravel the genetics behind early-onset CRC development, coupled with novel functional analyses and omic approaches that may offer complementary insight.
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FERNÁNDEZ ROZADILLA, C., ÁLVAREZ BARONA, M., QUINTANA, Isabel, LÓPEZ NOVO, Anael, AMIGO, J., CAMESELLE TEIJEIRO, J. m., ROMAN, E., GONZÁLEZ, D., LLOR, Xavier, BUJANDA, Luis, BESSA, X., JOVER, R., BALAGUER, F., CASTELLS GARANGOU, Antoni, CASTELLVÍ BEL, Sergi, CAPELLÁ, G. (gabriel), CARRACEDO ÁLVAREZ, Ángel, VALLE, Laura, RUIZ PONTE, Clara. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer. _Scientific Reports_. 2021. Vol. 11. [consulta: 21 de gener de 2026]. [Disponible a: https://hdl.handle.net/2445/178672]