Additional file 2 of Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study

Additional file 2: Supplementary tables. Table S1. Clinicopathological characteristics of patients and tumors in SCAN-B divided by screening subpopulation and relevant clinical subgroups/PAM50 molecular subtypes. Table S2. Genes included in the original two signatures and whether they were used for calculating the in silico rank scores in our work. Table S3. Differentially expressed genes between screening subpopulations by clinical subgroups and PAM50 molecular subtypes. Table S4. Significant pathways overrepresented in up- and downregulated genes found in screened TNBC patients compared to non-screened. Table S5. Estimated cell fraction and enrichment score mean and standard deviation divided by clinical subgroups and PAM50 molecular subtypes. Table S6. Top 10 genes with most expressed somatic variants per clinical subgroup and their distribution in patients with regards to screening status and presence of somatic variants. Table S7. List of PGVs and VUS identified in 900 SCAN-B patients screened for germline variants. Table S8. Clinicopathological characteristics of patients with and without PGVs. Table S9. Differentially expressed genes between patients with and without PGVs divided by clinical subgroups and PAM50 molecular subtypes. Table S10. Significant pathways overrepresented in up- and downregulated genes found in ER+/HER2− patients with PGVs when compared to those without variants. Table S11. Estimated cell fraction and enrichment score mean and standard deviation by PGV status of patients divided by clinical subgroups and PAM50 molecular subtypes. Table S12. Top 10 genes with most expressed somatic variants within patients tested for germline variants in three specific genes and their distribution in patients with regards to presence of somatic variants and PGVs. Table S13. All SCAN-B patients used in this study, screening status, for which of the 11 genes analyzed a patient was tested, and whether any PGV was found.