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Research Article
Natalia Forgacova
Comenius University in Bratislava Faculty of Natural Sciences: Univerzita Komenskeho v Bratislave Prirodovedecka fakulta
Corresponding Author
ORCiD: https://orcid.org/0000-0001-6764-0895
License:
This work is licensed under a CC BY 4.0 License. Read Full License
PURPOSE: In our previous work, we described 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 as a valuable source of population specific data. In the present study, we used these data to determine the population allele frequency of common risk variants located in genes associated with colorectal cancer (CRC) and Lynch syndrome (LS).
METHODS: Allele frequencies of identified variants were compared with six world populations to detect significant differences between populations. Finally, we interpreted variants and searched for functional consequences and clinical significance of variants using publicly available databases.
RESULTS: Although we could not identify any pathogenic variants associated with CRC or LS in the Slovak population using NIPT data, we observed significant differences in the allelic frequency of risk CRC variants previously reported in GWAS and common variants located in genes associated with LS.
CONCLUSION: As Slovakia is the third country with the highest incidence of CRC per 100 000 population in the world, we highlight a need for studies dedicated to the cause of such a high incidence of CRC in Slovakia. We also assume that extensive cross-country data aggregation of NIPT results would represent an unprecedented source of information about human genome variation, also in cancer research.
Keywords
Colorectal cancer, Lynch syndrome, Non-invasive prenatal testing, Low-coverage massively parallel whole genome sequencing
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This is a preprint. It has not completed peer review.
Research Article
Natalia Forgacova
Comenius University in Bratislava Faculty of Natural Sciences: Univerzita Komenskeho v Bratislave Prirodovedecka fakulta
Corresponding Author
ORCiD: https://orcid.org/0000-0001-6764-0895
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
History
CURRENT STATUS: Posted
Version 1
Posted 12 Mar, 2021
No community comments so far
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Oncology
License:
This work is licensed under a CC BY 4.0 License. Read Full License
PURPOSE: In our previous work, we described 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 as a valuable source of population specific data. In the present study, we used these data to determine the population allele frequency of common risk variants located in genes associated with colorectal cancer (CRC) and Lynch syndrome (LS).
METHODS: Allele frequencies of identified variants were compared with six world populations to detect significant differences between populations. Finally, we interpreted variants and searched for functional consequences and clinical significance of variants using publicly available databases.
RESULTS: Although we could not identify any pathogenic variants associated with CRC or LS in the Slovak population using NIPT data, we observed significant differences in the allelic frequency of risk CRC variants previously reported in GWAS and common variants located in genes associated with LS.
CONCLUSION: As Slovakia is the third country with the highest incidence of CRC per 100 000 population in the world, we highlight a need for studies dedicated to the cause of such a high incidence of CRC in Slovakia. We also assume that extensive cross-country data aggregation of NIPT results would represent an unprecedented source of information about human genome variation, also in cancer research.
Figure 1
Figure 2
Figure 3
Figure 4
Figure 5
Figure 6
Figure 7
Figure 8
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