Málstofa Lífvísindaseturs: Genetic landscape of early-onset breast cancer

Málstofa Lífvísindaseturs föstudaginn 22. mars kl. 12:00-13:00 í Öskju, stofu N-132

Fyrirlesari: Þorkell Guðjónsson, assistent professor, Biotech Research and Innovation Centre (BRIC), University of Copenhagen

Titill: Exploring the genetic landscape of early-onset breast cancer using CRISPR-select

Abstract: Apart from age, family history is the largest known risk factor for breast cancer development and accounts for about 10% of all cases. Compared to sporadic breast cancer, familial breast cancers (FBC) are associated with early disease onset and worse clinical outcomes, emphasizing the need for improved treatment options and risk management. From a genetic perspective, there are currently two main problems in the clinical management of FBC. 1) In the majority of FBC cases, we cannot explain the increased cancer risk because the pathogenic gene variant is unknown. The unidentified pathogenic variants are likely rare, which makes risk estimation through patient cohorts challenging. 2) Even when a variant in a known breast cancer predisposition gene is identified, it is in most cases unclear if the specific variant is pathogenic or benign (variant of unknown significance). There are for instance over 10.000 variants of unknown significance reported in the BRCA1 and BRCA2 tumor suppressor genes. This presents an important clinical problem, since it leaves uncertainty regarding treatment decisions and risk management of close family members. In both scenarios, functional genetic assays would be very beneficial to empower variant classifications, and clinical decision-making. In this presentation, I will present CRISPR-select, a novel, fast and reliable method, which efficiently and rapidly determines the potential impact gene variants have on cell function. Furthermore, I will explain how we apply CRISPR-select to identify novel genetic risk factors associated with early-onset breast cancer.

Short-Bio: BSc in Molecular and Cell Biology from University of Iceland (2006). MSc in Human Biology from University of Copenhagen (2009). I did my PhD at the Danish Cancer Society and the University of Copenhagen, under the supervision of Jiri and Claudia Lukas (2014). Following my PhD, I worked as a postdoctoral fellow in Stefáns Sigurðssons group at the University of Iceland. Since 2020, assistant professor at the Biotech Research and Innovation Centre (BRIC), University of Copenhagen.