Article
A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.
Blood - 1 Sept 2011
Biswas Kajal, Das Ranabir, Alter Blanche P, Kuznetsov Sergey G, Stauffer Stacey, North Susan L, Burkett Sandra, Brody Lawrence C, Meyer Stefan, Byrd R Andrew, Sharan Shyam K
Abstract excerpt
Biallelic mutations in the human breast cancer susceptibility gene, BRCA2, are associated with Fanconi anemia, implying that some persons who inherit 2 deleterious variants of BRCA2 are able to survive even though it is well established that BRCA2 is indispensable for viability in mice. One such variant, IVS7 + 2T > G, results in premature protein truncation because of skipping of exon 7. Surprisingly, the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.