Líffræðifélag Íslands - biologia.is
Líffræðiráðstefnan 2021
Erindi/veggspjald / Talk/poster E80
Höfundar / Authors: María Rose Bustos (1), Laufey Tryggvadóttir (1,2), Snædís Ragnarsdóttir (1), Stefán Sigurðsson (1)
Starfsvettvangur / Affiliations: 1. Háskóli Íslands, 2. Krabbameinsskrár Krabbameinsfélags Íslands
Kynnir / Presenter: María Rose Bustos
Recent studies have shown that loss of heterozygosity (LOH) is present in only half of breast cancer patients that carry BRCA2 mutations. The purpose of this study is to research the difference between breast cancers with LOH and without LOH in BRCA2 999del5 founder mutation carriers. To achieve this aim, RNA sequencing data obtained from BRCA2 999del5 breast cancer patients will be analyzed to study the differential gene expression in cancers with LOH and without LOH. This will provide valuable insight into how BRCA2 999del5 breast cancer cells survive and how to target them specifically. The correlation between LOH and clinical parameters such as ER, PR, HER2 and Ki-67 expression will also be studied. Preliminary data from an LOH assay on BRCA2 999del5 breast cancer samples indicate that nearly all of the breast cancers that have LOH are also ER positive. These patients appear to have the worst life expectancy out of all cancer cases in relation to LOH and ER status. The preliminary data also suggests that roughly one third of breast cancer cases that do not show LOH are ER negative. Therefore, neither hormone receptor nor BRCA loss specific cancer therapies are viable options for these patients. This understates the dire need for additional information about the difference between breast cancers that have BRCA2 LOH and breast cancers that do not have LOH, in order to provide specific and efficient cancer therapies for all breast cancer patients.