Förbättrade genetiska analyser vid misstänkt ärftlig bröstcancer

Modern genomics methods produce vast amounts of genetic data, but we are still limited in our ability to interpret what effect sequence variation has on gene expression, protein function and ultimately the individual’s phenotype. This is a problem in clinical genetic testing, e.g. in the diagnosis of hereditary breast cancer, where many variants are classified as ‘variant of unknown significance’ (VUS) for lack of information about their effects. The purpose of this project is to understand how specific types of genetic variants, which traditionally have not been extensively studied, can affect breast cancer risk and tumour characteristics through effects on the transcriptome and proteome. This includes variants in sequences that regulate messenger RNA (mRNA) splicing and synonymous variants that lead to a change between two codons for the same amino acid, thereby not directly altering the protein-coding sequence. Synonymous variants can still be functional, e.g. through effects on mRNA splicing and stability, as well as the speed of translation and protein folding.