Importantly, we evaluated the utility of the AJP-specific screening approach using the independent WES data of 49 Ashkenazi Jewish samples derived from high-risk BC cases who do not harbour mutations in the predominant underlying genes – BRCA1 and BRCA2. Of the 2638 predicted deleterious variants, 81·3% were very rare according to the European MAF, compared to 77·5% using the AJP MAF. The gene discussed is BRCA1; the disease is breast cancer.