BRCA-associated breast cancer

Breast cancer (BC) is the most prevalent cancer among females in the UK, accounting for 31% of diagnosed female cancer cases during 2018¹. Armstrong et al² found that approximately 3% of all BC cases are linked to a mutation in the BRCA1/2 genes, with evidence indicating that individuals with BRCA mutations have a high cumulative BC risk of approximately 70%³.

BRCA1/2 are anti-oncogenes that are involved in tumour suppression⁴. They encode a range of proteins⁵, several of which play an important role in the homologous recombination deoxyribonucleic acid (DNA) repair pathway^{6, 7}. This pathway contributes to the repair of DNA double strand breaks and supports successful DNA replication⁸; crucially, genomic stability is compromised if the pathway is unable to function effectively. BRCA1/2 mutations compromise the homologous recombination DNA pathway, thus forcing...