Michael J Kerin

Radiogenomic profiling to determine BRCA alteration status—a systematic review and meta-analysis

Abstract Objectives Approximately 10% of breast and 20% of ovarian cancers are hereditary in nature. The most commonly implicated genes are the BRCA genes, and the current gold standard for testing is by direct DNA sequencing. This process is expensive, time-consuming, and has a turnaround time of several weeks. Radiogenomics involves extracting quantitative data from medical imaging and using mathematical models to predict the underlying genetic makeup of tissues. Aim To perform a systematic review and meta-analysis evaluating the accuracy of radiogenomics in determining BRCA alteration status. Methods A systematic review was performed in accordance with PRISMA guidelines. Diagnostic test accuracy analyses (i.e. pooled sensitivity and specificity) were performed. Statistical analyses were performed using RevMan V5.4. Results Thirteen studies compromising 2835 patients were included. Of these, 857 were BRCA alteration carriers. The mean age of patients was 46 years. Radiogenomic methods correctly identified BRCA alteration with a strong diagnostic test accuracy (pooled sensitivity: 0.82, 95% confidence interval [CI]: 0.79-0.84, pooled specificity: 0.81, 95% CI: 0.78-0.83). Conclusions Radiogenomics may be an accurate method to predict BRCA alterations. However, these findings should be validated in larger, prospective studies to determine their utility in clinical practice. Until further refinement of these methods, DNA sequencing should remain the gold standard. Advances in knowledge To the best of our knowledge, this is the first systematic review and meta-analysis that has been carried out on this topic. We believe that our results demonstrate the potential clinical utility radiogenomics could have in the BRCA alteration testing process.