Article
Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.
Cancer research - 15 Jan 2005
Wu Kangjian, Hinson Shannon R, Ohashi Akihiro, Farrugia Daniel, Wendt Patricia, Tavtigian Sean V, Deffenbaugh Amie, Goldgar David, Couch Fergus J
Abstract excerpt
The influence of germ line BRCA2 unclassified variants (UCV), including missense mutations and in-frame deletions and insertions on BRCA2 function and on cancer risk, has not been defined although these mutations account for 43% of all identified BRCA2 sequence alterations. To investigate the effects of UCVs on BRCA2 function, we compared mutant and wild-type forms of BRCA2 using assays of cellular survival and...
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