Figure 2
From: Homologous repair deficiency score for identifying breast cancers with defective DNA damage response
The association with HRD and signature 3. (A) Signature 3 determined by the Signature analyzer, and the relationship between the tumors in the top 10% of HRD scores (HRD tumors) and tumors with BRCA1 or BRCA2 germline mutation. Most patients in the top 10% HRD, BRCA1 germline, and BRCA2 germline group were included in the Signature 3 group. Signature 3: Patients whose Signature analyzer-derived signature 3-like value was the most dominant (n = 484); HRD top 10%: Patients with HRD scores in the top 10% (n = 92), BRCA1 germline: Patients who had a BRCA1 germline mutation (n = 20); BRCA2 germline: Patients who had a BRCA2 germline mutation (n = 29). (B) The inclusion relationship between HRD tumors and Signature 3 population. Among the tumors with a top 10% HRD score, six patients had no BRCA1/2 germline mutations, while only three had none. (C) The difference in HRD score between samples with BRCA1 or BRCA2 germline mutation and those without mutation. Wilcoxon rank-sum test produced the p-value = 8.3e−10. The central line in the box plot represents the median. (D) Assessment of the prediction accuracy among different variables with respect to BRCA1 and BRCA2 germline mutation. The maximum sum between sensitivity and specificity is indicated.
