Article
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.
Human molecular genetics - 15 Sept 2012
Biswas Kajal, Das Ranabir, Eggington Julie M, Qiao Huanyu, North Susan L, Stauffer Stacey, Burkett Sandra S, Martin Betty K, Southon Eileen, Sizemore Scott C, Pruss Dmitry, Bowles Karla R, Roa Benjamin B, Hunter Neil, Tessarollo Lino, Wenstrup Richard J, Byrd R Andrew, Sharan Shyam K
Abstract excerpt
Single-nucleotide substitutions and small in-frame insertions or deletions identified in human breast cancer susceptibility genes BRCA1 and BRCA2 are frequently classified as variants of unknown clinical significance (VUS) due to the availability of very limited information about their functional consequences. Such variants can most reliably be classified as pathogenic or non-pathogenic based on the data of their...
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