Structural and functional analysis of a Drosophila transcription factor encoded by the gene grainyhead

SIGLEAvailable from British Library Document Supply Centre-DSC:DXN010874 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

Background Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling of individuals carrying these variants. We previously showed that variant BRCA1 c.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