Gene
|
Any variant
|
---|
Control carriers
|
Case carriers
|
ORa (95% CI)
|
P value
|
Groupb
|
---|
BABAM1/MERIT40
|
4
|
2
|
0.5 (0.1, 2.8)
|
0.43
|
Low
|
BACH1
|
22
|
21
|
0.8 (0.4, 1.5)
|
0.55
|
Low
|
BRCC3/BRCC36
|
3
|
1
|
0.3 (0.0, 3.2)
|
0.34
|
Low
|
BRE
|
11
|
7
|
0.6 (0.2, 1.6)
|
0.35
|
Low
|
CDH1
|
14
|
11
|
0.8 (0.4, 1.7)
|
0.54
|
Low
|
CDKN1A
|
13
|
11
|
0.8 (0.4, 1.9)
|
0.66
|
Low
|
COBRA1
|
6
|
4
|
0.7 (0.2, 2.4)
|
0.55
|
Low
|
DLG1
|
25
|
15
|
0.6 (0.3, 1.2)
|
0.12
|
Low
|
ESR1
|
10
|
6
|
0.6 (0.2, 1.5)
|
0.26
|
Low
|
EXO1
|
45
|
37
|
0.8 (0.5, 1.3)
|
0.41
|
Low
|
FAM175A/ABRAXAS
|
7
|
5
|
0.7 (0.2, 2.3)
|
0.56
|
Low
|
FANCA
|
19
|
15
|
0.8 (0.4, 1.6)
|
0.53
|
Low
|
FANCD2
|
20
|
15
|
0.7 (0.4, 1.4)
|
0.33
|
Low
|
FANCF
|
6
|
5
|
0.8 (0.3, 2.8)
|
0.77
|
Low
|
FANCG
|
6
|
4
|
0.7 (0.2, 2.4)
|
0.55
|
Low
|
FANCI
|
22
|
13
|
0.6 (0.3, 1.2)
|
0.13
|
Low
|
IRS2
|
13
|
9
|
0.7 (0.3, 1.5)
|
0.33
|
Low
|
KIAA1967
|
22
|
17
|
0.8 (0.4, 1.5)
|
0.41
|
Low
|
LIG4
|
15
|
13
|
0.7 (0.3, 1.6)
|
0.46
|
Low
|
MLH3
|
21
|
10
|
0.5 (0.2, 1.0)
|
0.06
|
Low
|
MUS81
|
10
|
7
|
0.6 (0.2, 1.6)
|
0.30
|
Low
|
MYC
|
2
|
2
|
0.8 (0.1, 5.5)
|
0.78
|
Low
|
NAT1
|
3
|
1
|
0.4 (0.0, 3.4)
|
0.37
|
Low
|
PMS2
|
22
|
16
|
0.7 (0.3, 1.3)
|
0.24
|
Low
|
POLH
|
13
|
5
|
0.4 (0.1, 1.1)
|
0.07
|
Low
|
POLQ
|
43
|
36
|
0.8 (0.5, 1.2)
|
0.43
|
Low
|
PRKAA2
|
8
|
3
|
0.4 (0.1, 1.5)
|
0.16
|
Low
|
RAD51D/RAD51L3
|
9
|
4
|
0.4 (0.1, 1.4)
|
0.17
|
Low
|
RAD54L
|
21
|
12
|
0.6 (0.3, 1.2)
|
0.14
|
Low
|
RTEL1
|
20
|
8
|
0.4 (0.2, 0.9)
|
0.03
|
Low
|
TIMELESS
|
28
|
23
|
0.8 (0.5, 1.4)
|
0.44
|
Low
|
TP53BP1
|
27
|
21
|
0.8 (0.5, 1.5)
|
0.51
|
Low
|
TP63
|
6
|
3
|
0.5 (0.1, 2.0)
|
0.33
|
Low
|
TTI2
|
9
|
7
|
0.8 (0.3, 2.2)
|
0.67
|
Low
|
WDR48
|
15
|
10
|
0.7 (0.3, 1.5)
|
0.36
|
Low
|
XRCC1
|
31
|
21
|
0.7 (0.4, 1.2)
|
0.14
|
Low
|
APEX1
|
10
|
10
|
1.0 (0.4, 2.4)
|
0.98
|
No effect
|
AR
|
32
|
31
|
1.0 (0.6, 1.6)
|
0.94
|
No effect
|
ATR
|
30
|
29
|
1.0 (0.6, 1.6)
|
0.92
|
No effect
|
BAP1
|
4
|
4
|
1.0 (0.3, 4.0)
|
1.00
|
No effect
|
BLM
|
35
|
31
|
0.9 (0.5, 1.4)
|
0.59
|
No effect
|
CDC27
|
12
|
12
|
1.0 (0.5, 2.3)
|
0.98
|
No effect
|
CDKN2A
|
3
|
3
|
1.0 (0.2, 4.9)
|
0.99
|
No effect
|
EIF4G1
|
26
|
29
|
1.1 (0.7, 1.9)
|
0.67
|
No effect
|
EP300
|
21
|
18
|
0.9 (0.5, 1.6)
|
0.66
|
No effect
|
ERCC6
|
47
|
53
|
1.1 (0.8, 1.7)
|
0.55
|
No effect
|
FANCB
|
9
|
9
|
0.9 (0.4, 2.4)
|
0.87
|
No effect
|
FANCC
|
11
|
10
|
0.9 (0.4, 2.2)
|
0.87
|
No effect
|
FANCE
|
11
|
10
|
0.9 (0.4, 2.2)
|
0.86
|
No effect
|
FANCL
|
9
|
10
|
1.1 (0.4, 2.8)
|
0.84
|
No effect
|
FLNA
|
25
|
24
|
1.0 (0.6, 1.7)
|
0.94
|
No effect
|
MAGI3
|
26
|
28
|
1.1 (0.6, 1.8)
|
0.82
|
No effect
|
MAST2
|
46
|
50
|
1.1 (0.7, 1.7)
|
0.66
|
No effect
|
MCM4
|
25
|
29
|
1.1 (0.7, 1.9)
|
0.70
|
No effect
|
MCPH1
|
27
|
28
|
1.0 (0.6, 1.8)
|
0.92
|
No effect
|
MDC1
|
24
|
22
|
0.9 (0.5, 1.7)
|
0.81
|
No effect
|
MSH2
|
18
|
17
|
0.9 (0.5, 1.8)
|
0.76
|
No effect
|
MSH6
|
16
|
16
|
0.9 (0.5, 1.9)
|
0.86
|
No effect
|
NBN
|
26
|
27
|
1.0 (0.6, 1.8)
|
0.87
|
No effect
|
PHLPP2
|
32
|
34
|
1.0 (0.6, 1.7)
|
0.97
|
No effect
|
POLK
|
22
|
22
|
1.0 (0.5, 1.8)
|
0.99
|
No effect
|
RAD51B/REC2/RAD51L1
|
6
|
5
|
0.9 (0.3, 2.8)
|
0.80
|
No effect
|
RECQL4
|
49
|
55
|
1.1 (0.8, 1.7)
|
0.59
|
No effect
|
RINT1
|
8
|
8
|
1.0 (0.4, 2.8)
|
0.95
|
No effect
|
SETX
|
25
|
24
|
1.0 (0.6, 1.7)
|
0.91
|
No effect
|
TELO2
|
17
|
18
|
1.1 (0.5, 2.1)
|
0.89
|
No effect
|
XRCC2
|
7
|
6
|
0.9 (0.3, 2.7)
|
0.84
|
No effect
|
APLF
|
7
|
11
|
1.5 (0.6, 3.9)
|
0.40
|
High
|
ATM
|
40
|
77
|
1.9 (1.3, 2.9)
|
0.001
|
High
|
BARD1
|
7
|
9
|
1.3 (0.5, 3.6)
|
0.59
|
High
|
BRIP1/FANCJ
|
16
|
25
|
1.5 (0.8, 2.8)
|
0.25
|
High
|
CHEK1
|
4
|
6
|
1.2 (0.3, 4.5)
|
0.75
|
High
|
CHEK2
|
22
|
62
|
3.0 (1.9, 5.0)
|
0.00001
|
High
|
CHGB
|
9
|
11
|
1.2 (0.5, 3.0)
|
0.65
|
High
|
DCLRE1C
|
9
|
14
|
1.6 (0.7, 3.7)
|
0.28
|
High
|
DGKZ
|
33
|
38
|
1.2 (0.7, 1.9)
|
0.52
|
High
|
ERCC2
|
17
|
27
|
1.6 (0.9, 3.0)
|
0.13
|
High
|
EYA3
|
6
|
7
|
1.2 (0.4, 3.5)
|
0.77
|
High
|
FANCM
|
23
|
38
|
1.7 (1.0, 2.8)
|
0.06
|
High
|
FEN1
|
6
|
7
|
1.2 (0.4, 3.6)
|
0.74
|
High
|
FOXO1
|
6
|
7
|
1.8 (0.5, 6.0)
|
0.38
|
High
|
FOXO3
|
0
|
8
|
-
|
-
|
High
|
FOXO4
|
0
|
4
|
-
|
-
|
High
|
MAST1
|
8
|
17
|
2.2 (0.9, 5.1)
|
0.07
|
High
|
MCM7
|
10
|
18
|
1.8 (0.8, 4.0)
|
0.13
|
High
|
MLH1
|
15
|
19
|
1.3 (0.6, 2.5)
|
0.52
|
High
|
MRE11A
|
12
|
14
|
1.2 (0.6, 2.6)
|
0.64
|
High
|
MSH3
|
25
|
30
|
1.2 (0.7, 2.1)
|
0.49
|
High
|
NTHL1
|
18
|
22
|
1.2 (0.6, 2.2)
|
0.65
|
High
|
NUMA1
|
36
|
51
|
1.4 (0.9, 2.2)
|
0.12
|
High
|
PALB2
|
9
|
30
|
3.5 (1.7, 7.5)
|
0.001
|
High
|
PIK3R1
|
1
|
4
|
4.3 (0.5, 38.3)
|
0.20
|
High
|
PMS1
|
6
|
10
|
1.5 (0.6, 4.3)
|
0.41
|
High
|
PPM1D
|
4
|
6
|
1.5 (0.4, 5.4)
|
0.53
|
High
|
PTEN
|
0
|
4
|
-
|
-
|
High
|
RAD50
|
30
|
37
|
1.2 (0.7, 2.0)
|
0.44
|
High
|
RAD51C
|
7
|
10
|
1.5 (0.6, 4.0)
|
0.41
|
High
|
RAD9B
|
4
|
6
|
1.5 (0.4, 5.2)
|
0.55
|
High
|
RECQL5
|
20
|
29
|
1.5 (0.9, 2.7)
|
0.14
|
High
|
REV3L
|
31
|
39
|
1.3 (0.8, 2.1)
|
0.30
|
High
|
RNF168
|
13
|
16
|
1.2 (0.6, 2.6)
|
0.59
|
High
|
RPA1
|
9
|
14
|
1.5 (0.7, 3.6)
|
0.32
|
High
|
SLX4/FANCP
|
36
|
44
|
1.2 (0.8, 1.9)
|
0.38
|
High
|
STK11
|
1
|
2
|
2.1 (0.2, 22.9)
|
0.55
|
High
|
TGFB1
|
5
|
9
|
1.6 (0.5, 4.9)
|
0.38
|
High
|
TOP3A
|
22
|
31
|
1.4 (0.8, 2.5)
|
0.23
|
High
|
TP53
|
3
|
6
|
2.0 (0.5, 8.0)
|
0.34
|
High
|
TSC2
|
45
|
56
|
1.3 (0.9, 1.9)
|
0.23
|
High
|
TTI1
|
26
|
30
|
1.2 (0.7, 2.0)
|
0.57
|
High
|
UIMC1/RAP80
|
12
|
15
|
1.2 (0.6, 2.7)
|
0.58
|
High
|
USP8
|
9
|
16
|
1.7 (0.7, 3.8)
|
0.23
|
High
|
WRN
|
47
|
59
|
1.3 (0.9, 1.9)
|
0.23
|
High
|
XRCC3
|
4
|
7
|
1.8 (0.5, 6.2)
|
0.36
|
High
|
- Abbreviations: OR (95%CI) odds ratio (95% confidence interval)
- aReference group: non-carrier of a variant in the tested gene
- bGroup “Low”: OR <0.9; Group “No Effect”: 0.9≤ OR ≤1.1; Group “High”: OR >1.1