Article
BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.
Journal of medical genetics - 1 Aug 2012
Spurdle Amanda B, Whiley Phillip J, Thompson Bryony, Feng Bingjian, Healey Sue, Brown Melissa A, Pettigrew Christopher, Van Asperen Christi J, Ausems Margreet G E M, Kattentidt-Mouravieva Anna A, van den Ouweland Ans M W, Lindblom Annika, Pigg Maritta H, Schmutzler Rita K, Engel Christoph, Meindl Alfons, Caputo Sandrine, Sinilnikova Olga M, Lidereau Rosette, Couch Fergus J, Guidugli Lucia, Hansen Thomas van Overeem, Thomassen Mads, Eccles Diana M, Tucker Kathy, Benitez Javier, Domchek Susan M, Toland Amanda E, Van Rensburg Elizabeth J, Wappenschmidt Barbara, Borg Åke, Vreeswijk Maaike P G, Goldgar David E
Abstract excerpt
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...
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