Published Functional Data on Missense Changes and Unclassified Variants in BRCA1 and
BRCA2
Published Functional Data on Missense Changes and Unclassified Variants in BRCA1 and
BRCA2
This table was generated from our database on 15-03-2002. We will continue to add references to this database and post updates on this site regularly.
|
Gene |
Exon |
Designation |
Assay used |
Interaction tested |
Result |
Reference |
|
BRCA1 |
2 |
V11A |
E3 Ub-ligase activity assay |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
2 |
V11A |
Radiation sensitivity |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
2 |
M18T |
Radiation sensitivity |
None (BRCA1 feature) |
As mutant control |
(5)
|
|
BRCA1 |
2 |
M18T |
E3 Ub-ligase activity assay |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
2 |
I21V |
E3 Ub-ligase activity assay |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
2 |
I21V |
Radiation sensitivity |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
2 |
C24R |
E3 Ub-ligase activity assay |
None (BRCA1 feature) |
As mutant control |
(5)
|
|
BRCA1 |
2 |
C24R |
Radiation sensitivity |
None (BRCA1 feature) |
As mutant control |
(5)
|
|
BRCA1 |
3 |
I31M |
E3 Ub-ligase activity assay |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
3 |
I31M |
Radiation sensitivity |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
3 |
T37R |
E3 Ub-ligase activity assay |
None (BRCA1 feature) |
As mutant control |
(5)
|
|
BRCA1 |
3 |
T37R |
Radiation sensitivity |
None (BRCA1 feature) |
As mutant control |
(5)
|
|
BRCA1 |
3 |
C39A |
Gel filtration chromatography |
BRCA1/RING-BARD1 |
As wildtype control |
(1)
|
|
BRCA1 |
3 |
H41A |
Gel filtration chromatography |
BRCA1/RING-BARD1 |
As wildtype control |
(1)
|
|
BRCA1 |
3 |
I42V |
E3 Ub-ligase activity assay |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
3 |
I42V |
Radiation sensitivity |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
5 |
C61A |
Gel filtration chromatography |
BRCA1/RING-BARD1 |
As wildtype control |
(1)
|
|
BRCA1 |
5 |
C61G |
Survival assay with HCC1937 (after
MMS treatment) |
None (BRCA1 feature) |
As mutant control |
(7)
|
|
BRCA1 |
5 |
C64A |
Gel filtration chromatography |
BRCA1/RING-BARD1 |
As wildtype control |
(1)
|
|
BRCA1 |
5 |
R71G |
E3 Ub-ligase activity assay |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
5 |
R71G |
Radiation sensitivity |
None (BRCA1 feature) |
As wildtype control |
(5)
|
|
BRCA1 |
16 |
T1561I |
Transcription activation in yeast
(GAL4-fusions) |
None (BRCA1 feature) |
As wildtype control |
(4)
|
|
BRCA1 |
16 |
L1564P |
Transcription activation in yeast
(GAL4-fusions) |
None (BRCA1 feature) |
As wildtype control |
(4)
|
|
BRCA1 |
18 |
C1697R |
Structural prediction
(crystallography) |
None (BRCA1 feature) |
Predicted deleterious |
(6)
|
|
BRCA1 |
18 |
R1699W |
Structural prediction
(crystallography) |
None (BRCA1 feature) |
Predicted deleterious |
(6)
|
|
BRCA1 |
18 |
R1699L |
Structural prediction
(crystallography) |
None (BRCA1 feature) |
Predicted deleterious |
(6)
|
|
BRCA1 |
18 |
G1706E |
Structural prediction
(crystallography) |
None (BRCA1 feature) |
Predicted deleterious |
(6)
|
|
BRCA1 |
18 |
A1708E |
Proteolytic degradation |
None (BRCA1 feature) |
As mutant control |
(6)
|
|
BRCA1 |
18 |
A1708E |
Survival assay with HCC1937 (after
MMS treatment) |
None (BRCA1 feature) |
As mutant control |
(7)
|
|
BRCA1 |
18 |
S1715R (5264C>A) |
Structural prediction
(crystallography) |
None (BRCA1 feature) |
Predicted deleterious |
(6)
|
|
BRCA1 |
18 |
W1718C |
Structural prediction
(crystallography) |
None (BRCA1 feature) |
Predicted deleterious |
(6)
|
|
BRCA1 |
20 |
D1733G |
Transcription activation in yeast
(GAL4-fusions) |
None (BRCA1 feature) |
As wildtype control |
(4)
|
|
BRCA1 |
20 |
G1738E |
Transcription activation in yeast
(GAL4-fusions) |
None (BRCA1 feature) |
As mutant control |
(4)
|
|
BRCA1 |
21 |
M1775R |
Proteolytic degradation |
None (BRCA1 feature) |
Intermediate mt/wt |
(6)
|
|
BRCA1 |
23 |
P1806A |
Transcription activation in yeast
(GAL4-fusions) |
None (BRCA1 feature) |
As wildtype control |
(4)
|
|
BRCA1 |
24 |
W1837G |
Structural prediction
(crystallography) |
None (BRCA1 feature) |
Predicted deleterious |
(6)
|
|
BRCA1 |
24 |
W1837R |
Structural prediction
(crystallography) |
None (BRCA1 feature) |
Predicted deleterious |
(6)
|
|
BRCA2 |
11 |
D1420Y (G>T) |
DNA binding assay (gel-shift) |
BRCA2/BRC3 domain - Rad51 |
As wildtype control |
(3)
|
|
BRCA2 |
11 |
T1430A |
DNA binding assay (gel-shift) |
BRCA2/BRC3 domain - Rad51 |
As mutant control |
(3)
|
|
BRCA2 |
11 |
G1529R |
Yeast two-hybrid |
BRCA2-BRC4/RAD51 |
Intermediate mt/wt |
(2)
|
References
1.
Brzovic PS, Meza JE, King MC, Klevit RE (2001) BRCA1 RING domain
cancer-predisposing mutations - Structural consequences and effects on
protein-protein interactions. J Biol Chem, 276: 41399-41406.
2.
Chen CF, Chen PL, Zhong Q, Sharp ZD, Lee WH (1999) Expression of BRC
repeats in breast cancer cells disrupts the BRCA2-Rad51 complex and leads to
radiation hypersensitivity and loss of G(2)/M checkpoint control. J Biol Chem,
274: 32931-32935.
3.
Davies AA, Masson JY, Mcllwraith MJ, Stasiak AZ, Stasiak A, Venkitaraman
AR, West SC (2001) Role of BRCA2 in control of the RAD51 recombination and DNA
repair protein. Mol Cell, 7: 273-282.
4.
Hayes F, Cayanan C, Barilla D, Monteiro ANA (2000) Functional assay for
BRCA1: Mutagenesis of the COOH- terminal region reveals critical residues for
transcription activation. Cancer Res, 60: 2411-2418.
5.
Ruffner H, Joazeiro CA, Hemmati D, Hunter T, Verma IM (2001)
Cancer-predisposing mutations within the RING domain of BRCA1: Loss of ubiquitin
protein ligase activity and protection from radiation hypersensitivity. Proc
Natl Acad Sci USA, 98: 5134-5139.
6.
Williams RS, Green R, Glover JNM (2001) Crystal structure of the BRCT
repeat region from the breast cancer-associated protein BRCA1. Nature Struct
Biol, 8: 838-842.
7. Zhong Q, Chen CF, Li S, Chen YM, Wang CC, Xiao J, Chen PL, Sharp ZD, Lee WH (1999) Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science, 285: 747-750.