Fig. 7

Comparison between screened patients with and without pathogenic germline variants. a Distribution of clinicopathological variables in 560 screened patients from the ER + /HER2 − clinical subgroup. b Fold change of differentially expressed genes (FDR ≤ 0.01) in patients with PGVs when compared to those without PGVs in clinical subgroups/molecular subtypes that had more than 10 patients with PGVs. c Distribution of an immune response measure calculated in silico per sample stratified by patient germline variant status and clinical subgroups/PAM50 molecular subtypes. p = corrected Mann–Whitney test p-values, 6 tests. d Cell fraction of two immune cell types with statistically significant differences between PGV groups in ER + /HER2 − cases. e Distribution of a gene expression immune response score in ER + /HER2 − cases stratified by whether patients had PGVs in specific genes. f Proportion of patients with expressed somatic variants in 10 genes stratified by patient germline variant status for BRCA1, BRCA2, and CHEK2. Only genes with a statistically significant difference between groups through Fisher’s exact test are identified