Article
Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.
Human mutation - 1 Jun 2014
Soussi Thierry, Leroy Bernard, Taschner Peter E M
Abstract excerpt
The architecture of TP53, the most frequently mutated gene in human cancer, is more complex than previously thought. Using TP53 variants as clinical biomarkers to predict response to treatment or patient outcome requires an unequivocal and standardized procedure toward a definitive strategy for the clinical evaluation of variants to provide maximum diagnostic sensitivity and specificity. An intronic promoter and...
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