BMC Seminar Thursday 25th of January at 12:00 in room 343 Læknagarður

Speaker: Birna Þorvaldsdóttir, a PhD student of Jórunn E. Eyfjörð at the Cancer Research Laboratory, Faculty of Medicine, University of Iceland

Title: Telomere length and telomere dysfunction in BRCA2 mutation carriers

Abstract: The tumor suppressor protein BRCA2 is important for maintaining genomic stability. BRCA2 is essential for homologous recombination repair of DNA double strand breaks and also has a role in protection of stalled replication forks as well as in telomere protection and maintenance. Disruptions in telomere homeostasis can result in excessive telomere shortening and drive chromosome instability, a hallmark of BRCA2-related cancers. 

Germline mutations in the BRCA2 gene are associated with highly increased risk of breast cancer, although mutation carriers seem to differ with respect to age of onset and severity of disease. It is therefore of great interest to identify factors that influence breast cancer risk within the mutation carrier group.

We have measured telomere length and levels of telomere dysfunction in blood and tumor-adjacent normal breast tissue from Icelandic BRCA2 mutation carriers and investigated their potential relationship with breast cancer risk. Our results indicate that in BRCA2 mutation carriers, shorter TL in both blood and normal breast tissue is associated with earlier breast cancer occurrence.