a decreasing trendP = 0.0006
Interestingly, we observed a decreasing trend in the correlation coefficient between germline variant burden and somatic mutational burden (Jonckheere-Terpstra test, P = 0.0006; Fig. 2d ).
Interestingly, we observed a decreasing trend in the correlation coefficient between germline variant burden and somatic mutational burden (Jonckheere-Terpstra test, P = 0.0006; Fig. 2d ).
In the SMC cohort, we observed a trend towards significance ( P = 0.077; Odds Ratio, 1.45; 95% CI, 0.94−2.21) compared to KOREA1K, while in the TARGET cohort, we found a statistically significant difference ( P = 0.027; Odds Ratio, 1.46; 95% CI, 1.04−2.05) compared to the TCGA cohort.
The enrichment of putatively functional germline variants in cancer predisposition genes is borderline significant when compared to healthy populations ( P = 0.077; Odds Ratio, 1.45; 95% confidence intervals, 0.94−2.21) and significantly more pronounced against adult-onset cancers ( P = 0.016; Odds Ratio, 2.13; 95% confidence intervals, 1.10−3.91).