Table 3.

Associations between Pathogenic Variants in Established Breast Cancer–Predisposition Genes and Risk of Breast Cancer According to Estrogen-Receptor and Triple-Negative Breast Cancer Status of Tumors.^*

Breast Cancer–Predisposition Gene	ER-Positive Breast Cancer (N = 18,428)		ER-Negative Breast Cancer (N = 3805)		Triple-Negative Breast Cancer (N = 1463)
	Participants with Pathogenic Variant	Odds Ratio (95% CI)†	Participants with Pathogenic Variant	Odds Ratio (95% CI)†	Participants with Pathogenic Variant	Odds Ratio (95% CI)†
	no. (%)		no. (%)		no. (%)
ATM	151 (0.82)	1.96 (1.52–2.53)	19 (0.50)	1.04 (0.59–1.72)	5 (0.34)	0.50 (0.12–1.36)
BARDI	20 (0.11)	0.91 (0.49–1.64)	11 (0.29)	2.52 (1.18–5.00)	6 (0.41)	3.18 (1.16–7.42)
BRCA1	73 (0.40)	3.39 (2.17–5.45)	114 (3.00)	26.33 (17.28–41.52)	65 (4.44)	42.88 (26.56–71.25)
BRCA2	201 (1.09)	4.66 (3.52–6.23)	82 (2.16)	8.89 (6.36–12.47)	30 (2.05)	9.70 (5.97–15.47)
CDH1	13 (0.07)	3.37 (1.24–10.72)	3 (0.08)	NA	1 (0.07)	NA
CHEK2	205 (1.11)	2.60 (2.05–3.31)	20 (0.53)	1.40 (0.83–2.25)	8 (0.55)	1.63 (0.72–3.20)
NF1‡	10 (0.05)	1.63 (0.65–4.03)	2 (0.05)	NA	1 (0.07)	NA
PALB2	64 (0.35)	3.13 (2.02–4.96)	42 (1.10)	9.22 (5.63–15.25)	24 (1.64)	13.03 (7.08–23.75)
PTEN	3 (0.02)	NA	0	NA	0	NA
RAD51C	16 (0.09)	0.83 (0.44–1.54)	9 (0.24)	2.19 (0.97–4.49)	4 (0.27)	NA
RAD51D	13 (0.07)	1.61 (0.71–3.70)	7 (0.18)	3.93 (1.40–10.29)	1 (0.07)	NA
TP53‡	9 (0.05)	NA	2 (0.05)	NA	2 (0.14)	NA

^*The studies in the CARRIERS consortium that were included in this population-based analysis were BWHS, CPSII, CPS3, CTS, MCBCS, MEC, MMHS, NHS, NHSII, WCHS, WHI, and WWHS. ER denotes estrogen-receptor.

^†Odds ratio estimates for any breast cancer were adjusted for study, age, family history of breast cancer, and race or ethnic group.

^‡Pathogenic variants in NF1 and TP53 were restricted to those with an alternate allele fraction between 0.3 and 0.7.