TY - JOUR
AU - Brown, Melissa
AB - Introduction Many of the DNA sequence variants identified in studied, and the posterior probability for this variant was 96%. the breast cancer susceptibility gene BRCA1 remain The posterior probabilities of R1699Q and A1708V were 54% unclassified in terms of their potential pathogenicity. Both and 69%, respectively, only moderately suggestive of increased multifactorial likelihood analysis and functional approaches have risk. Interestingly, results from functional analyses suggest that been proposed as a means to elucidate likely clinical both of these variants have only partial functional activity. significance of such variants, but analysis of the comparative R1699Q was defective in foci formation in response to DNA value of these methods for classifying all sequence variants has damage and displayed intermediate transcriptional been limited. transactivation activity but showed no evidence for centrosome amplification. In contrast, A1708V displayed an intermediate Methods We have compared the results from multifactorial transcriptional transactivation activity and a normal foci likelihood analysis with those from several functional analyses formation response in response to DNA damage but induced for the four BRCA1 sequence variants A1708E, G1738R, centrosome amplification. R1699Q, and A1708V. Conclusion These data highlight the need for a range of Results Our results show that multifactorial likelihood analysis, functional 
TI - Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
JF - Breast Cancer Research
DO - 10.1186/bcr1826
DA - 2007-11-26
UR - https://www.deepdyve.com/lp/springer-journals/identification-of-brca1-missense-substitutions-that-confer-partial-3ci4fus4xd
SP - 1
EP - 13
VL - 9
IS - 6
DP - DeepDyve
ER -