Case
|
a
BRCA1 carrier type
|
Stage
|
bGrade
|
Type
|
TTGE
|
Exon
|
Codon
|
Mutation
|
aa change
|
Age of diagnosis
|
cSurvival months
|
dVital status
|
---|
3453
|
1
|
3
|
2
|
ser
|
pos
|
5
| |
559+1G>A
|
splice
|
53
|
83
|
1
|
10
|
1
|
3
|
3
|
ser
|
pos
|
6
|
213
|
CGA>TGA
|
arg>stop
|
65
|
22
|
3
|
2857
|
1
|
3
|
3
|
ser
|
pos
|
6
|
213
|
CGA>TGA
|
arg>stop
|
53
|
83
|
3
|
4
|
1
|
4
|
3
|
ser
|
pos
|
6
|
216
|
GTG>ATG
|
val>met
|
59
|
11
|
3
|
27
|
1
|
2
|
3
|
endo
|
pos
|
7
|
237
|
ATG>ATA
|
met>ile
|
39
|
61
|
3
|
8
e
|
1
|
3
|
3
|
ser
|
pos
|
7
|
260
|
TCC>TCT
|
ser>ser
|
49
|
84
|
3
|
| | | | | |
8
|
306
|
CGA>TGA
|
arg>stop
| | | |
14
|
1
|
1
|
3
|
ser
|
pos
|
8
|
267
|
CGG>CAG
|
arg>gln
|
51
|
25
|
3
|
13
|
1
|
4
|
3
|
ser
|
pos
|
8
|
273
|
CGT>AGT
|
arg>ser
|
39
|
15
|
3
|
29
|
1
|
3
|
3
|
mix
|
pos
|
8
|
273
|
CGT>TGT
|
arg>cys
|
50
|
36
|
3
|
2842
|
1 1
|
4
|
3
|
ser
|
pos
|
8
|
273
|
CGT>TGT
|
arg>cys
|
39
|
35
|
3
|
21
|
1
|
3
|
3
|
ser
|
pos
|
8
|
293
|
GGG>AGG
|
gly>arg
|
39
|
21
|
3
|
26
|
1
|
3
|
2
|
ser
|
pos
| |
intron
|
G>A
|
ivs5
|
53
|
93
|
1
|
9
|
1
|
4
|
2
|
ser
|
neg
| | | | |
50
|
39
|
3
|
11
|
1
|
3
|
3
|
ser
|
neg
| | | | |
44
|
8
|
3
|
17
|
1
|
3
|
3
|
ser
|
neg
| | | | |
47
|
30
|
3
|
24
|
1
|
2
|
4
|
ser
|
neg
| | | | |
59
|
20
|
3
|
34
|
1
|
1
|
3
|
ser
|
neg
| | | | |
46
|
120
|
1
|
30
|
1
|
1
|
2
|
ser
|
neg
| | | | |
43
|
199
|
2
|
32
|
1
|
2
|
3
|
ser
|
neg
| | | | |
48
|
108
|
1
|
3351
|
1
|
4
|
3
|
endo
|
neg
| | | | |
44
|
9
|
3
|
1
|
2
|
4
|
3
|
ser
|
pos
|
5
|
144
|
CAG>TAG
|
gln>stop
|
41
|
1
|
3
|
3
|
2
|
3
|
3
|
uncl
|
pos
|
6
|
196
|
CGA>TGA
|
arg>stop
|
48
|
46
|
3
|
20
|
2
|
3
|
3
|
ser
|
pos
|
6
|
205
|
TAT>TCT
|
tyr>ser
|
52
|
36
|
3
|
28
|
2
|
4
|
3
|
ser
|
pos
|
7
|
261
|
AGG>AGA
|
arg>arg
|
80
|
12
|
3
|
7
e
|
2
|
3
|
3
|
ser
|
pos
|
7
|
255
|
ATC>GTC
|
ile>val
|
58
|
30
|
3
|
| | | | | |
5
|
141
|
TGC>TGT
|
cys>cys
| | | |
12
|
2
|
1
|
3
|
ser
|
pos
|
8
|
280
|
AGA>GGA
|
arg>gly
|
49
|
134
|
1
|
15
|
2
|
3
|
3
|
ser
|
pos
| |
intron
|
C>T
|
ivs7
|
50
|
19
|
3
|
5
|
2
|
4
|
3
|
ser
|
neg
| | | | |
60
|
45
|
3
|
18
|
2
|
2
|
3
|
endo
|
neg
| | | | |
44
|
117
|
3
|
22
|
2
|
3
|
2
|
mix
|
neg
| | | | |
47
|
96
|
3
|
- a: 1 = 1675delA and 2 = 1135insA. b: undifferentiated (4). c: all patients were followed until diseased or to 15th April, 2004. d: alive without cancer (1), alive with cancer (2), and dead by cancer (3). e: two different mutations detected in sample.