Repurposing non‑invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome

In our previous work, genomic data generated through non‑invasive prenatal testing (NIPT) based on low‑coverage massively parallel whole‑genome sequencing of total plasma DNA pregnant women in Slovakia was described as a valuable source population specific data. the present study, these were used to determine allele frequency common risk variants located genes associated with colorectal cancer (CRC) and Lynch syndrome (LS). Allele frequencies identified compared six world populations detect significant differences between populations. Finally, interpreted, functional consequences searched for clinical significance investigated using publicly available databases. Although study did not identify any pathogenic CRC or LS Slovak NIPT data, observed allelic previously reported genome‑wide association studies LS. As is one leading countries highest incidence among male patients world, there need dedicated investigating cause such high Slovakia. The also assumed that extensive cross‑country aggregation results would represent an unprecedented information concerning human genome variation research.