Article
Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.
Cancer research - 1 Sept 2009
De Nicolo Arcangela, Parisini Emilio, Zhong Quan, Dalla Palma Maurizia, Stoeckert Kathryn A, Domchek Susan M, Nathanson Katherine L, Caligo Maria A, Vidal Marc, Cusick Michael E, Garber Judy E
Abstract excerpt
Unequivocal discrimination between neutral variants and deleterious mutations is crucial for appropriate counseling of individuals with a BRCA1 or BRCA2 sequence change. An increasing number of variants of uncertain significance (VUS) are being identified, the unclassified biological effect of which poses clinical concerns. A multifactorial likelihood-based approach recently suggested disease causality for BRCA1...
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