Table 4. Open in new tab Associations...

Gene	Estrogen receptor-negative breast cancer	Estrogen receptor-positive breast cancer
ATM	6 (0.44)	1.00 (0.34 to 2.60)	.99	28 (0.92)	2.08 (1.09 to 4.08)	.029
BARD1	3 (0.22)	1.21 (0.25 to 4.54)	.78	3 (0.10)	0.66 (0.14 to 2.41)	.55
BRCA1	60 (4.48)	129.7 (28.0 to >100)	<.001	19 (0.63)	15.58 (3.09 to >100)	.008
BRCA2	31 (2.31)	9.38 (4.76 to 19.62)	<.001	57 (1.88)	6.83 (3.67 to 13.72)	<.001
BRIP1	3 (0.22)	1.72 (0.34 to 7.23)	.47	4 (0.13)	0.85 (0.20 to 3.30)	.82
CDH1	3 (0.22)	4.75 (0.69 to 40.6)	.47	1 (0.03)	—	—
CHEK2	2 (0.15)	—‡	—	14 (0.46)	4.02 (1.52 to 11.86)	.007
ERCC3	3 (0.22)	1.95 (0.42 to 6.81)	.33	10 (0.33)	2.76 (1.08 to 7.10)	.032
FANCC	5 (0.37)	2.01 (0.60 to 6.01)	.23	14 (0.46)	2.42 (1.00 to 5.97)	.050
NF1	2 (0.15)	—	—	4 (0.13)	9.94 (1.37 to >100)	.045
PALB2	22 (1.64)	15.57 (6.09 to 47.97)	< .001	22 (0.72)	5.44 (2.07 to 17.13)	.001
RAD51C	4 (0.30)	4.23 (0.88 to 22.72)	.071	4 (0.13)	2.22 (0.47 to 11.71)	.31
RAD51D	6 (0.44)	7.82 (1.61 to 57.42)	.018	2 (0.07)	—	—
RECQL	4 (0.30)	2.44 (0.56 to 9.99)	.21	8 (0.26)	2.65 (0.83 to 9.20)	.10
TP53	—	—	—	5 (0.16)	9.24 (1.29 to >100)	.053

Gene

Estrogen receptor-negative breast cancer

Estrogen receptor-positive breast cancer

Affected (n = 1340)No. of mutated alleles (mutation frequency, %)

OR* (95% CI)

P†

Affected (n = 3038)No. of mutated alleles (mutation frequency, %)

OR* (95% CI)

P†

ATM

6 (0.44)

1.00 (0.34 to 2.60)

.99

28 (0.92)

2.08 (1.09 to 4.08)

.029

BARD1

3 (0.22)

1.21 (0.25 to 4.54)

.78

3 (0.10)

0.66 (0.14 to 2.41)

.55

BRCA1

60 (4.48)

129.7 (28.0 to >100)

<.001

19 (0.63)

15.58 (3.09 to >100)

.008

BRCA2

31 (2.31)

9.38 (4.76 to 19.62)

<.001

57 (1.88)

6.83 (3.67 to 13.72)

<.001

BRIP1

3 (0.22)

1.72 (0.34 to 7.23)

.47

4 (0.13)

0.85 (0.20 to 3.30)

.82

CDH1

3 (0.22)

4.75 (0.69 to 40.6)

.47

1 (0.03)

—

CHEK2

2 (0.15)

—‡

—

14 (0.46)

4.02 (1.52 to 11.86)

.007

ERCC3

3 (0.22)

1.95 (0.42 to 6.81)

.33

10 (0.33)

2.76 (1.08 to 7.10)

.032

FANCC

5 (0.37)

2.01 (0.60 to 6.01)

.23

14 (0.46)

2.42 (1.00 to 5.97)

.050

NF1

2 (0.15)

—

4 (0.13)

9.94 (1.37 to >100)

.045

PALB2

22 (1.64)

15.57 (6.09 to 47.97)

< .001

22 (0.72)

5.44 (2.07 to 17.13)

.001

RAD51C

4 (0.30)

4.23 (0.88 to 22.72)

.071

4 (0.13)

2.22 (0.47 to 11.71)

.31

RAD51D

6 (0.44)

7.82 (1.61 to 57.42)

.018

2 (0.07)

—

RECQL

4 (0.30)

2.44 (0.56 to 9.99)

.21

8 (0.26)

2.65 (0.83 to 9.20)

.10

TP53

—

5 (0.16)

9.24 (1.29 to >100)

.053

Gene	Estrogen receptor-negative breast cancer	Estrogen receptor-positive breast cancer
ATM	6 (0.44)	1.00 (0.34 to 2.60)	.99	28 (0.92)	2.08 (1.09 to 4.08)	.029
BARD1	3 (0.22)	1.21 (0.25 to 4.54)	.78	3 (0.10)	0.66 (0.14 to 2.41)	.55
BRCA1	60 (4.48)	129.7 (28.0 to >100)	<.001	19 (0.63)	15.58 (3.09 to >100)	.008
BRCA2	31 (2.31)	9.38 (4.76 to 19.62)	<.001	57 (1.88)	6.83 (3.67 to 13.72)	<.001
BRIP1	3 (0.22)	1.72 (0.34 to 7.23)	.47	4 (0.13)	0.85 (0.20 to 3.30)	.82
CDH1	3 (0.22)	4.75 (0.69 to 40.6)	.47	1 (0.03)	—	—
CHEK2	2 (0.15)	—‡	—	14 (0.46)	4.02 (1.52 to 11.86)	.007
ERCC3	3 (0.22)	1.95 (0.42 to 6.81)	.33	10 (0.33)	2.76 (1.08 to 7.10)	.032
FANCC	5 (0.37)	2.01 (0.60 to 6.01)	.23	14 (0.46)	2.42 (1.00 to 5.97)	.050
NF1	2 (0.15)	—	—	4 (0.13)	9.94 (1.37 to >100)	.045
PALB2	22 (1.64)	15.57 (6.09 to 47.97)	< .001	22 (0.72)	5.44 (2.07 to 17.13)	.001
RAD51C	4 (0.30)	4.23 (0.88 to 22.72)	.071	4 (0.13)	2.22 (0.47 to 11.71)	.31
RAD51D	6 (0.44)	7.82 (1.61 to 57.42)	.018	2 (0.07)	—	—
RECQL	4 (0.30)	2.44 (0.56 to 9.99)	.21	8 (0.26)	2.65 (0.83 to 9.20)	.10
TP53	—	—	—	5 (0.16)	9.24 (1.29 to >100)	.053

Table 4.

Open in new tab

Associations between pathogenic mutations in breast cancer predisposition genes and estrogen receptor tumor subtype in African American women

Gene	Estrogen receptor-negative breast cancer			Estrogen receptor-positive breast cancer
Gene	Affected (n = 1340)No. of mutated alleles (mutation frequency, %)	OR* (95% CI)	P†	Affected (n = 3038)No. of mutated alleles (mutation frequency, %)	OR* (95% CI)	P†
ATM	6 (0.44)	1.00 (0.34 to 2.60)	.99	28 (0.92)	2.08 (1.09 to 4.08)	.029
BARD1	3 (0.22)	1.21 (0.25 to 4.54)	.78	3 (0.10)	0.66 (0.14 to 2.41)	.55
BRCA1	60 (4.48)	129.7 (28.0 to >100)	<.001	19 (0.63)	15.58 (3.09 to >100)	.008
BRCA2	31 (2.31)	9.38 (4.76 to 19.62)	<.001	57 (1.88)	6.83 (3.67 to 13.72)	<.001
BRIP1	3 (0.22)	1.72 (0.34 to 7.23)	.47	4 (0.13)	0.85 (0.20 to 3.30)	.82
CDH1	3 (0.22)	4.75 (0.69 to 40.6)	.47	1 (0.03)	—	—
CHEK2	2 (0.15)	—‡	—	14 (0.46)	4.02 (1.52 to 11.86)	.007
ERCC3	3 (0.22)	1.95 (0.42 to 6.81)	.33	10 (0.33)	2.76 (1.08 to 7.10)	.032
FANCC	5 (0.37)	2.01 (0.60 to 6.01)	.23	14 (0.46)	2.42 (1.00 to 5.97)	.050
NF1	2 (0.15)	—	—	4 (0.13)	9.94 (1.37 to >100)	.045
PALB2	22 (1.64)	15.57 (6.09 to 47.97)	< .001	22 (0.72)	5.44 (2.07 to 17.13)	.001
RAD51C	4 (0.30)	4.23 (0.88 to 22.72)	.071	4 (0.13)	2.22 (0.47 to 11.71)	.31
RAD51D	6 (0.44)	7.82 (1.61 to 57.42)	.018	2 (0.07)	—	—
RECQL	4 (0.30)	2.44 (0.56 to 9.99)	.21	8 (0.26)	2.65 (0.83 to 9.20)	.10
TP53	—	—	—	5 (0.16)	9.24 (1.29 to >100)	.053

Gene	Estrogen receptor-negative breast cancer			Estrogen receptor-positive breast cancer
Gene	Affected (n = 1340)No. of mutated alleles (mutation frequency, %)	OR* (95% CI)	P†	Affected (n = 3038)No. of mutated alleles (mutation frequency, %)	OR* (95% CI)	P†
ATM	6 (0.44)	1.00 (0.34 to 2.60)	.99	28 (0.92)	2.08 (1.09 to 4.08)	.029
BARD1	3 (0.22)	1.21 (0.25 to 4.54)	.78	3 (0.10)	0.66 (0.14 to 2.41)	.55
BRCA1	60 (4.48)	129.7 (28.0 to >100)	<.001	19 (0.63)	15.58 (3.09 to >100)	.008
BRCA2	31 (2.31)	9.38 (4.76 to 19.62)	<.001	57 (1.88)	6.83 (3.67 to 13.72)	<.001
BRIP1	3 (0.22)	1.72 (0.34 to 7.23)	.47	4 (0.13)	0.85 (0.20 to 3.30)	.82
CDH1	3 (0.22)	4.75 (0.69 to 40.6)	.47	1 (0.03)	—	—
CHEK2	2 (0.15)	—‡	—	14 (0.46)	4.02 (1.52 to 11.86)	.007
ERCC3	3 (0.22)	1.95 (0.42 to 6.81)	.33	10 (0.33)	2.76 (1.08 to 7.10)	.032
FANCC	5 (0.37)	2.01 (0.60 to 6.01)	.23	14 (0.46)	2.42 (1.00 to 5.97)	.050
NF1	2 (0.15)	—	—	4 (0.13)	9.94 (1.37 to >100)	.045
PALB2	22 (1.64)	15.57 (6.09 to 47.97)	< .001	22 (0.72)	5.44 (2.07 to 17.13)	.001
RAD51C	4 (0.30)	4.23 (0.88 to 22.72)	.071	4 (0.13)	2.22 (0.47 to 11.71)	.31
RAD51D	6 (0.44)	7.82 (1.61 to 57.42)	.018	2 (0.07)	—	—
RECQL	4 (0.30)	2.44 (0.56 to 9.99)	.21	8 (0.26)	2.65 (0.83 to 9.20)	.10
TP53	—	—	—	5 (0.16)	9.24 (1.29 to >100)	.053

Odds ratios (ORs) adjusted for study design, age, and first-degree family history of breast cancer. Reference group is women who have no mutations in a given gene. CI = confidence interval.

†

Two-sided P values from logistic regression analysis.

‡

ORs not calculated because of small numbers of mutations.

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