Article
Functional analysis of human BRCA2 variants using a mouse embryonic stem cell-based assay.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2010
Kuznetsov Sergey G, Chang Suhwan, Sharan Shyam K
Abstract excerpt
We describe here a comprehensive and reliable assay to test the functional significance of variants of unknown clinical significance (VUS) identified in the human breast cancer susceptibility gene, BRCA2. The assay is based on the ability of human BRCA2 to complement the loss of endogenous Brca2 in mouse embryonic stem cells. The procedure involves generation of a desired mutation in BRCA2 present in a bacterial...
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