Open Access

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

  • Authors:
    • Natalia Forgacova
    • Juraj Gazdarica
    • Jaroslav Budis
    • Jan Radvanszky
    • Tomas Szemes
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  • Published online on: September 13, 2021     https://doi.org/10.3892/ol.2021.13040
  • Article Number: 779
  • Copyright: © Forgacova et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

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 of pregnant women in Slovakia was described as a valuable source of population specific data. In the present study, these data were used to determine the population allele frequency of common risk variants located in genes associated with colorectal cancer (CRC) and Lynch syndrome (LS). Allele frequencies of identified variants were compared with six world populations to detect significant differences between populations. Finally, variants were interpreted, functional consequences were searched for and clinical significance of variants was investigated using publicly available databases. Although the present study did not identify any pathogenic variants associated with CRC or LS in the Slovak population using NIPT data, significant differences were observed in the allelic frequency of risk CRC variants previously reported in genome‑wide association studies and common variants located in genes associated with LS. As Slovakia is one of the leading countries with the highest incidence of CRC among male patients in the world, there is a need for studies dedicated to investigating the cause of such a high incidence of CRC in Slovakia. The present study also assumed that extensive cross‑country data aggregation of NIPT results would represent an unprecedented source of information concerning human genome variation in cancer research.
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November-2021
Volume 22 Issue 5

Print ISSN: 1792-1074
Online ISSN:1792-1082

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Spandidos Publications style
Forgacova N, Gazdarica J, Budis J, Radvanszky J and Szemes T: Repurposing non‑invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome. Oncol Lett 22: 779, 2021.
APA
Forgacova, N., Gazdarica, J., Budis, J., Radvanszky, J., & Szemes, T. (2021). Repurposing non‑invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome. Oncology Letters, 22, 779. https://doi.org/10.3892/ol.2021.13040
MLA
Forgacova, N., Gazdarica, J., Budis, J., Radvanszky, J., Szemes, T."Repurposing non‑invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome". Oncology Letters 22.5 (2021): 779.
Chicago
Forgacova, N., Gazdarica, J., Budis, J., Radvanszky, J., Szemes, T."Repurposing non‑invasive prenatal testing data: Population study of single nucleotide variants associated with colorectal cancer and Lynch syndrome". Oncology Letters 22, no. 5 (2021): 779. https://doi.org/10.3892/ol.2021.13040