| Autors: Marinova, M. P., Toncheva D., Borovska, P. I., Serbezov D. Title: Incidence of ancient variants associated with oncological diseases in modern populations Keywords: Ancient DNA; BRCA2 gene; genome-wide data; TP53 gene; varian Abstract: Publicly available genome-wide data, sequenced from 2730 ancient human samples were analyzed for genetic predisposition to malignancy. The temporal and spatial incidence of risk variants for cancer diseases in ancient genomes was recorded, allowing for estimates of their frequencies in ancient human communities. We identified 55 risk alleles associated with oncological conditions in the screened ancient samples. For further analysis, we selected three variants conclusively deemed to entail pathogenic effect, the VHL gene’s rs28940298, the TP53 gene’s rs78378222 and the BRCA2 gene’s rs11571833. The contemporary population frequency of these three variants is lower, or similar, to their estimated frequency in ancient human communities, indicating that they might have been subject to negative selection. This is also suggested by their temporal dynamics during the last 10000 years, which show an overall temporal decrease in population frequency. The oldest samples in which these three var References Issue
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Вид: статия в списание, публикация в издание с импакт фактор, публикация в реферирано издание, индексирана в Scopus
