Project

Development of an in vivo functional assay to determine the pathogenicity of variants in breast cancer genes

Code
365M02318
Duration
01 January 2019 → 31 December 2019
Funding
Funding by bilateral agreement (private and foundations)
Research disciplines
  • Medical and health sciences
    • Laboratory medicine
    • Palliative care and end-of-life care
    • Regenerative medicine
    • Other basic sciences
    • Laboratory medicine
    • Palliative care and end-of-life care
    • Regenerative medicine
    • Other clinical sciences
    • Other health sciences
    • Nursing
    • Other paramedical sciences
    • Laboratory medicine
    • Palliative care and end-of-life care
    • Regenerative medicine
    • Other translational sciences
    • Other medical and health sciences
Keywords
breast cancer
 
Project description

The BReast CAncer genes 1 (BRCA1) and 2 (BRCA2) are the best known genes associated with a highly increased breast cancer risk. Genes like ATM and BARD1 are associated with a moderately increased risk. All of these are involved in the repair of DNA double strand breaks (DSB) by homologous recombination (HR). With the implementation of next generation sequencing technologies in routine molecular diagnostics, the number of variants detected increases steeply. Determining the functional effect for missense variants is challenging, and these are often classified as 'variants of unknown clinical significance' (VUS). Such VUS complicate risk counseling, assessment and treatment of cancer patients. There is a high need for reliable functional assays, which introduce the protein containing the variant in a system to test its effectiveness.