Gagliardi, A., Porter, V. L., Zong, Z., Bowlby, R., Titmuss, E., Namirembe, C., Griner, N. B., Petrello, H., Bowen, J., Chan, S. K., Culibrk, L., Darragh, T. M., Stoler, M. H., Wright, T. C., Gesuwan, P., Dyer, M. A., Ma, Y., Mungall, K. L., Jones, S., Nakisige, C., … Marra, M. A.

Analysis of Ugandan cervical carcinomas identifies human papillomavirus clade-specific epigenome and transcriptome landscapes.

Nature genetics, 52(8), 800–810. 2020 DOI:10.1038/s41588-020-0673-7

“SMGs [significantly mutated genes] included [PIK3CA] FAT1, KMT2D, FBXW7, CASP8, MAPK1 and ZNF750.” “High-risk HPV-16 (clade A9), HPV-18 and HPV-45 (clade A7) were the most abundant”. ”KLF12, TP63, RAD51B and MYC were among 16 genes that were the closest in proximity to an integration event in multiple samples”. “ERVs [...] expression was significantly higher in integrated samples and was also positively correlated with the number of HPV insertions within the event.” “The absence of E2 expression in the A7-enriched cluster supports the current understanding that tumors with HPV-18 (clade A7) are always associated with integration, which leads to loss of E2 expression.” “Conversely, only about 76% of cervical tumors with HPV-16 (clade A9) show evidence of HPV integration, supporting the presumed presence of episomal HPV DNA due to the persistent expression of the E2 gene observed in our samples.”