BRCA1 variant
|
Expression (RNA and protein)
|
BRCT structure (trypsin sensitivity)
|
Transcription activation activity
|
Nuclear foci formation
|
Centrosome amplification
|
Conclusion
|
---|
BRCA1 5215 G>A (R1699Q)
|
Wild-type
|
Destabilised
|
Intermediate activity
|
Defective
|
Wild-type
|
Intermediate on 1 and defective on 2 of 5 criteria
|
BRCA1 5242 C>T (A1708V)
|
Wild-type
|
Wild-type
|
Intermediate activity
|
Normal
|
Positive
|
Intermediate on 1 and defective on 1 of 5 criteria
|
BRCA1 5242 C>A (A1708E)
|
Wild-type
|
Destabilised
|
No activity
|
Defectivea
|
Positive
|
Defective on 4 of 5 criteria
|
BRCA1 5331 G>A (G1738R)
|
Wild-type
|
Destabilised
|
No activity
|
Defective
|
Positive
|
Defective on 4 of 5 criteria
|
- aResults from assays performed in Lovelock and colleagues [3].