Article
A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1.
Human mutation - 1 Jul 2003
Southey M C, Tesoriero A, Young M A, Holloway A J, Jenkins M A, Whitty J, Misfud S, kConFab, McLachlan S A, Venter D J, Armes J E
Abstract excerpt
Genetic testing for cancer predisposing mutations in BRCA1 and BRCA2 has been of benefit to many individuals from breast and ovarian cancer-prone kindreds. However, a function has not been assigned to many of the domains that make up these complex proteins and hence, the significance of many sequence variants, including missense mutations, splice-site mutations, and in-frame deletions/insertions, remains unclear....
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