Figure 4.
The association between DNA damage repair mutations and tumor immune infiltrates in non-hypermutated cases
(A–D) Comparisons of the tumor immune infiltrate signatures in germline and somatic DDR mutated (MUT) and WT cases, including (A) tumor-infiltrating lymphocytes (TILs), (B) cytolytic activity (CYT) score, (C) PD1 expression, and (D) PD-L1 expression. Significance values were generated by linear regression adjusted by patients’ age and genetic principal components and FDR corrected. Gray, blue, and red represent cancer types that meet the criteria of FDR < 0.05 (significant) and FDR > 0.05 (none). The size of the dots represents −log10(FDR).
(E–H) Comparisons of the correlation coefficients of somatic DDR versus SNV neoantigen load with the somatic DDR versus immune signature, including (E) TILs, (F) CYT score, (G) PD1 expression, and (H) PD-L1 expression.
(I–L) Comparison of the correlation coefficients of somatic DDR versus indel neoantigen load with the somatic DDR versus immune signature, including (I) TILs, (J) CYT score, (K) PD1 expression, and (L) PD-L1 expression.
r represents the Pearson correlation coefficient. The color of the label represents the DDR pathways, including MMR (MLH1, MSH2, MSH3, MSH6, and PMS2), HR (BRCA1/2 and PALB2), sensor (ATM, ATR, and CHEK2) and polymerase (POLE and POLQ). DDR genes annotated with prefix “s” indicate somatic mutations. The axes indicate the correlation coefficients (coef) of linear regression adjusted by patients’ age and genetic components. Dots with significant associations between DDR mutations and immune signatures were labeled in all of the panels.