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Table 2 Summary of functional analyses on BRCA1 unclassified variants

From: Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

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
  1. aResults from assays performed in Lovelock and colleagues [3].
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Breast Cancer Research

ISSN: 1465-542X

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