Bioinformatics Seminars

Bioinformatics Seminar

Time: 11AM
Venue: Hybrid

19 September 2023

Analytical methods for ecDNAs in Cancer

Jennifer Ureta
WEHI Bioinformatics

One of the most common molecular alterations in cancer is oncogene amplification which is the overexpression of oncogenes and functional elements. It provides cancer cells with selective growth advantages that contribute to tumour proliferation and survival. Some genome amplifications can result from double-strand break events such as duplication, breakage fusion-bridge cycles and chromothripsis. In addition to this, the production of acentric, circular, extrachromosomal DNA (ecDNA) that replicate autonomously and the subsequent unequal mitotic segregation to their daughter cells and increase in number due to selective conditions, can also lead to gene amplification. Although oncogene amplification is widely recognised as an underlying cause of cancer development, we still do not have a complete understanding of the mechanisms that give rise to it. Thus, studying the circularization of linear chromosomal DNA can help us better understand the mechanisms behind gene amplifications. This research characterizes ecDNA and other high level focal amplifications in cancers, including prostate cancer and rare cancers, and aims to develop a method to classify ecDNA that overcomes some of the shortcomings of existing ecDNA classifiers while making use of the other structural and mechanistic features of ecDNA

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