P-values were computed by Fisher’s exact test (2-sided) or Chi-squared test with Yates correction using R version 3.6.144. A p-value of <0.05 was considered as statistically significant and Benjamini–Hochberg adjustment (BH) was used for multiple test corrections45. Haldane–Anscombe correction was used to calculate the odds ratio where a variant frequency of zero. The conditional Maximum Likelihood Estimate was used for the calculation of confidence intervals. Population attributable fraction (PAF) was calculated using the frequency of variants in the Lifepool control group according to Levin’s formula46. The relative risk estimate used in PAF calculation was based on the odds ratio observed in case-control data adjusted for population background risk of breast cancer47.
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