A comparison of HRD features in BC revealed that BRCA1 exerts a stronger influence inducing HRD features than BRCA2 does. Besides, BRCA1/2 mutations were dominantly observed in basal and luminal subtypes, respectively. HRD tumors were associated with high expression levels of BARD1 and BRIP1. This population showed a high level of mutations in DDR genes, including BRCA1/BRCA2. The BRCA signature was strongly associated with the HRD score top 10% (score ≥ 57) population. To define characteristic features of HRD tumors and analyze the correlations between BRCA1/BRCA2 and BC subtypes, we analyzed 981 breast tumors from the TCGA database using the signature analyzer. To define the characteristics of these tumors and also to identify tumors without BRCA mutation but with homologous recombination deficiency (HRD) is clinically relevant. Breast cancer (BC) in patients with germline mutations of BRCA1/BRCA2 are associated with benefit from drugs targeting DNA damage response (DDR), but they account for only 5–7% of overall breast cancer.
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