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. 2022 Oct 31;115(2):181–189. doi: 10.1093/jnci/djac196

Figure 1.

Figure 1.

Case-control analysis of rare LoF variants (minor allele frequency [MAF] ≤ 0.005) and MS variants (MAF ≤ 0.001) in known or strongly proposed breast cancer genes, including subcategories of estrogen receptor–positive (ER+), ER-negative (ER-), and triple-negative (TN) breast tumor where diagnosis was available. ER+ and ER- groups were mutually exclusive, and the ER- groups include the TN samples. Participants without sufficient pathological information were only included in the overall LoF group and excluded from the subcategory analysis. CHEK2, BARD1, and BRIP1 were screened in 6689 cases and 14 381 controls; RAD51C and RAD51D were screened in 5726 cases and 13 428 controls. The sample sizes of ER+, ER-, and TN were 2146, 1246, and 862, respectively. CI = confidence interval; LoF = loss of function; MS = missense; OR = odds ratio (3,4,11,12,18,19).