Mutation
|
---|
Family No
|
Total No of CaBr1
|
No of CaOv2 cases
|
Exon
|
Nucleotide
|
Effect
|
Other cancers (age at onset)
|
---|
A
|
4
|
-
|
20
|
5382ins C
|
Fs3
|
-
|
B
|
7
|
-
|
20
|
5331 G > A
|
G1738R
|
Colorectal (50)
|
C
|
4
|
1
|
23
|
5586G > A
|
Splicing
|
Larynx Lungs Genitalia
|
D
|
5
|
-
|
20
|
Deletion of the entire exon
|
Protein missing 20 a.a. of the BRCT-linker domain
|
Colorectal
|
E
|
3
|
-
|
20
|
5382ins C
|
Fs3
|
-
|
Benign polymorphisms
|
|
Exon
|
Codon
|
Nucleotide Change
|
Consequences
|
No of families
|
BRCA1
|
IVS 4
|
IVS4-19
|
C > A
|
-
|
1
|
|
IVS 7
|
IVS7-34
|
C > T
|
-
|
2
|
|
11
|
693
|
2196G > A
|
Asp > Asn
|
2
|
| |
694
|
2201C > T
|
Ser > Ser
|
5
|
| |
771
|
2430T > C
|
Leu > Leu
|
6
|
| |
871
|
2731C > T
|
Pro > Leu
|
3
|
| |
1038
|
3232A > G
|
Glu > Gly
|
7
|
| |
1040
|
3238G > A
|
Ser > Asn
|
1
|
| |
1145
4
|
3544T > C
|
Val > Val
|
1
|
| |
1150
|
3567C > T
|
Pro > Ser
|
1
|
| |
1183
|
3667A > G
|
Lys > Arg
|
7
|
|
13
|
1436
|
4427T > C
|
Ser > Ser
|
4
|
|
16
|
1613
|
4956A > G
|
Ser > Gly
|
1
|
|
24
|
1829
|
5606G > A
|
Glu > Glu
|
2
|
BRCA2
|
10
|
372
|
1342A > C
|
Asn > His
|
1
|
|
11
|
1132
|
3624A > G
|
Lys > Lys
|
2
|
| |
1269
|
4053T > C
|
Val > Val
|
1
|
|
14
|
2414
|
7470A > G
|
Ser > Ser
|
1
|
-
1 CaBr = Breast Cancer
-
2 CaOv = Ovarian Cancer
-
3 fs = frame-shift mutation
-
4 novel polymorphism identified in this study