A comparative study of breast cancer germ line sequence variants in a cohort of South African patients with individuals of international datasets.

Malan, M.*^1,2, Eygelaar, D.^1,2, Jansen van Rensburg, L.², Joubert, F.^1,2

¹ Centre for Bioinformatics and Computational Biology, University of Pretoria
² Department of Biochemistry, Genetics and Microbiology, University of Pretoria

Since the discovery of the breast cancer susceptibility genes, BRCA1 and BRCA2, various other genes conferring an increased risk for breast cancer have been identified. Currently, around 15 genes are typically studies for breast cancer susceptibility mutations. Studies to evaluate sequence variants in cancer predisposition genes among women of African ancestry are limited and mostly focused on BRCA1 and BRCA2. To characterize germ line sequence variants in patients from a local hospital, we recently sequenced 165 individuals with a 94-gene panel, and analyzed the main genes generally associated with breast cancer susceptibility. While this data has been published, the current project addresses the comparison of these variants to the widest possible range of variants from international breast cancer studies, where data was obtainable. We are in the process of obtaining access to as much international data as possible for comparison purposes. The goals include the analysis of variant frequencies in African vs. other populations, and the assessment of specific variants for use in breast cancer susceptibility screening panels.

Keywords: Breast cancer susceptibility