Publications by authors named "Magdalena Kuswick"
Int J Mol Sci
February 2021
Article Synopsis
- Germline mutations in known cancer predisposition genes only account for 20% of familial colorectal cancer (CRC), suggesting that other rare genetic variants may contribute to the remaining cases.
- Whole exome sequencing in a Polish family identified two novel variants: one in the APC downregulated 1 gene and another in the 5' UTR of the histone deacetylase 5 gene, with further testing indicating their potential link to CRC.
- The research highlights the significance of non-coding 5' UTR variants in influencing gene expression and their role in the development of familial CRC, emphasizing the need for further exploration of these genetic factors.
