- Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphismsChristopher Pettigrew
School of Molecular and Microbial Sciences, The University of Queensland, St, Lucia, Queensland, Australia
Breast Cancer Res 7:R929-39. 2005..Although predicting the effects of changes in consensus 5' and 3' splice sites near intron:exon boundaries is relatively straightforward, predicting the possible effects of changes in exonic splicing enhancers (ESEs) remains a challenge...
- BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer riskAmanda B Spurdle
Division of Genetics and Population Health, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
J Med Genet 49:525-32. 2012..5096G>A p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, and proposed that this variant may confer low to moderate risk of cancer...