Our February webinar features work done by Isabel Rodriguez and Ayse Keskus from the Laboratory of Translational Genomics at the National Cancer Institute. Ms. Rodriguez and Dr. Keskus will present on methods and results from their recently published paper in the American Journal of Human Genetics (doi: 10.1016/j.ajhg.2024.01.002). This paper characterized 19 cervical and four head and neck cancer cell lines using long-read DNA and RNA sequencing and identified the HPV types, HPV integration sites, chromosomal alterations, and cancer driver mutations.
The authors analyzed the data with Severus, a complex structural variation analysis tool for cancer genomes. The findings revealed telomeric deletions associated with DNA inversions resulting from breakage-fusion-bridge (BFB) cycles. BFB is a common mechanism of chromosomal alterations in cancer, and this study applies long-read sequencing to this important chromosomal rearrangement type. Analysis of the inversion sites revealed staggered ends consistent with exonuclease digestion of the DNA after breakage. Some BFB events are complex, involving inter- or intra-chromosomal insertions or rearrangements. In summary, the team uncovered valuable insights into the mechanisms and consequences of BFB cycles in cervical cancer using long-read sequencing.
About the Speakers
Isabel Rodriguez received her Bachelor of Science in Biochemistry at the Florida International University in 2021. Her research interests include Cervical, Breast and Pediatric cancers as well as long-read sequencing. Her current work involves Oxford nanopore long read sequencing of cervical cell lines.
Ayse Keskus received her PhD from Bilkent University in Turkey. Her research interests include complex structural variations in cancer genomes.
