Líffræðifélag Íslands - biologia.is
Líffræðiráðstefnan 2025
Erindi/veggspjald / Talk/poster V13
Höfundar / Authors: Gissur Máni Ísleifsson (1), Berglind Ósk Einarsdóttir (1)
Starfsvettvangur / Affiliations: 1. Háskóli Íslands
Kynnir / Presenter: Gissur Máni Ísleifsson
The BRCA2-999del5 founder mutation is highly prevalent in the Icelandic population and is associated with a significantly increased lifetime risk of developing cancer. We propose the use of cell-free DNA (cfDNA) analysis as a promising, minimally invasive method for early cancer detection, as it enables early tumor detection through the identification of circulating tumor DNA (ctDNA). While broadly applicable, cfDNA analysis may hold particular value for BRCA2-999del5 mutation carriers and other high-risk populations. We intend to perform a detailed comparison of cfDNA profiles between cancer-free BRCA2-999del5 carriers and a matched control group without the mutation. This will be achieved using a cfDNA-specific Nanopore sequencing protocol, from which we will analyze fragmentomic, epigenetic, and positional characteristics of cfDNA fragments. We hypothesize that mutation carriers may exhibit detectable changes in these features even prior to tumor development, due to the critical role of BRCA2 in DNA maintenance and repair. The findings of this study may enhance our understanding of the biological effects of the mutation before cancer onset and highlight the importance of evaluating high-risk populations, such as BRCA2-999del5 carriers, individually in the development of cfDNA-based diagnostics, to better understand and mitigate the potential for false positive or negative results.