Article
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.
Human mutation - 1 Jul 2016
Vallée Maxime P, Di Sera Tonya L, Nix David A, Paquette Andrew M, Parsons Michael T, Bell Russel, Hoffman Andrea, Hogervorst Frans B L, Goldgar David E, Spurdle Amanda B, Tavtigian Sean V
Abstract excerpt
Clinical mutation screening of the cancer susceptibility genes BRCA1 and BRCA2 generates many unclassified variants (UVs). Most of these UVs are either rare missense substitutions or nucleotide substitutions near the splice junctions of the protein coding exons. Previously, we developed a quantitative method for evaluation of BRCA gene UVs-the "integrated evaluation"-that combines a sequence analysis-based prior...
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