Fig. 4: Clinical characteristics of germline alterations and comparison with the general population.

a The prevalence of pathogenic germline variants in the DDR pathway. b–e Overall breast cancer risk and molecular subtypes associated with pathogenic germline variants in a population-based study. ORs and 95% CIs are shown for overall breast cancer, HR⁺/HER2^– breast cancer, HER2⁺ breast cancer, and TNBC associated with germline variants. The control cohort was obtained from the East Asian populations (n = 9977) in GnomAD. The case‒control association was assessed by Fisher’s exact test, adjusted by the false discovery rate (FDR). One asterisk indicates FDR < 0.05, two indicate FDR < 0.01, three indicate FDR < 0.001, and no asterisk on the left of the gene name indicates no significance. The detailed P values are available in Supplementary Tables S6 and S7. f Comparisons of clinical features in each germline mutation group categorized by BCDG mutations; the panel on the upper right details the germline variants with a history of contralateral breast cancer. Logistic regression accounts for clinical subtypes and histology. A forest plot presents the adjusted OR and 95% CI of the comparison of clinical features among different germline groups. g Age at diagnosis was compared according to each germline mutation group among different molecular subtypes. A smaller mountain indicates one patient, such as a BRCA1 carrier in HER2⁺ breast cancer and a TP53 carrier in TNBC. The P values were calculated by the Wilcoxon signed-rank test. •P < 0.1, *P < 0.05, **P < 0.01, ***P < 0.001, and ns, not significant.