Mutational profiling of breast cancer metastases
Supplementary Table S4. Primary and metastasis only mutations Primary only mutations Influence of tumor% and copy number aberrations patient
gene
AA
Variant%
tumor%
copy number aberrations
primary
metastasis
primary
metastasis
primary
metastasis -1
12
DNMT1
p.Val3272Ile
4.1%
0.0%
80
80
0
6
POLE
p.Gln99Glu
3.6%
0.0%
60
70
0
0
8
NOTCH3
p.Pro800Leu
6.8%
0.0%
60
30
-1
-1
10
GRIN2A
p.His677Gln
7.2%
0.0%
80
50
0
0
10
RAF1
p.Pro161Ser
4.0%
0.4%
80
50
0
0
10
WT1
p.Glu18Gln
4.9%
0.0%
80
50
0
0
12
DOT1L
p.Arg1199fs
15.0%
0.0%
80
80
0
-1
16
PTPRT
p.Arg1729His
6.4%
0.0%
60
80
1
0
No influence of tumor% and copy number aberrations patient
gene
AA
Variant%
tumor%
copy number aberrations
primary
metastasis
primary
metastasis
primary
metastasis
4
RB1
p.Pro254Leu
19.5%
0.0%
80
80
0
0
9
POLE
p.Arg1111Trp
17.2%
0.0%
70
60
0
0
13
ARID1B
p.Pro308Leu
10.8%
0.0%
80
70
0
0
13
NOTCH1
p.Asp1880His
21.8%
0.0%
80
70
1
1
13
PRDM1
p.Pro2212Leu
23.7%
0.0%
80
70
0
0
14
ATRX
p.Ala46Thr
12.4%
0.0%
80
80
0
1
14
NOTCH4
p.Ala149Val
11.4%
0.0%
80
80
-1
-1
16
TSC2
p.Glu2250Lys
6.2%
0.0%
60
80
0
0
19
DNMT3B
p.Pro320Ser
12.8%
0.0%
50
80
-
-
12
SPEN
p.Leu277Pro
6.6%
0.4%
80
80
0
0
14
RAD51B
p.Gln1087*
7.1%
0.0%
80
80
0
0
14
CTCF
p.Ala638Thr
9.1%
0.0%
80
80
0
0
14
ERBB2
p.Ser41del
6.1%
0.4%
80
80
-1
-1
47
2