Mutation
|
This study
|
Freqa
|
Controlsb
|
Freqc
|
p-value
|
OR
|
95% CI
|
Ref
|
---|
CHEK2 c.1100delC
|
4 of 68
|
0.059
|
26 of 1885
|
0.014
|
0.019
|
4.47
|
1.51–13.18
|
8
|
CHEK2 I157T
|
4 of 68
|
0.059
|
100 of 1885
|
0.053
|
0.781
|
1.12
|
0.40–3.13
|
12
|
PALB2 c.1592delT
|
0 of 68
|
0
|
2 of 1079
|
0.002
|
1
|
n.a.
|
n.a.
|
22
|
FANCM p.Q1701X
|
0 of 68
|
0
|
38 of 2080
|
0.018
|
0.632
|
n.a.
|
n.a.
|
25
|
RAD51C c.93delG
|
0 of 68
|
0
|
2 of 2086
|
0.001
|
1
|
n.a.
|
n.a.
|
18
|
RAD51C c.837+1G>A
|
0 of 68
|
0
|
0 of 2086
|
0
|
1
|
n.a.
|
n.a.
|
18
|
RAD51D c.576+1G>A
|
0 of 68
|
0
|
1 of 2102
|
0
|
1
|
n.a.
|
n.a.
|
24
|
-
amutation frequency in this study
-
bsee cited reference for control populations
-
cmutation frequency in controls