BRCA Mutations in Breast Cancer Insights into Genetic Risk and Tailored Therapeutic Interventions

Abstract

BRCA1 and BRCA2 genes, located on separate chromosomes, encode crucial multifunctional proteins that are important for correcting errors in DNA replication and cell division. The two genes work in tandem at different stages in the DNA damage response and for DNA repair and could be functionally distorted in cases of mutations. This paper aims to provide insights into clinical BRCA gene mutations associated with breast cancer while also examining therapeutic strategies for BRCA-associated tumours. Data was obtained from studied research found through reputable scholarly search engines like PubMed and Google Scholar as well as credible genomic databases. Facts and findings were synthesized from both pre-clinical and clinical studies. Inheritance of a variation in one of the breast cancer susceptibility genes, BRCA1 or BRCA2 has been identified as the greatest risk for breast cancer. It contributes to 5–10% of diagnostic cases, conferring lifetime risks of 60–70% for BRCA1, and 50–60% risk for BRCA2 mutations. Mutations impair homologous recombination (HR) repair, leading to genomic instability due to leaks of Damaged DNA materials. aggressive tumour phenotypes, like triple-negative breast cancer (TNBC) in BRCA1 mutation and ER-positive luminal types for BRCA2 mutation are major examples. Genetic testing, advanced screening (e.g., MRI), and genetic counselling facilitate early diagnosis and risk assessment. Thus far, treatments like PARP inhibitors, for tumour targeting and preventive surgeries have shown good results in reducing risk by up to 90%. However, access to testing and treatments are major limitations. Innovative gene editing technologies like CRISPR/Cas9 and integration of AI and machine learning tools are showing promising potentials in advancing treatment and risk assessment, necessitating further research.