A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.

@article{Biswas2011ACF,
  title={A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay.},
  author={Kajal Biswas and Ranabir Das and Blanche P Alter and Sergey G. Kuznetsov and Stacey Stauffer and Susan Lynn North and Sandra Sczerba Burkett and Lawrence C. Brody and Stefan Meyer and Richard Byrd and S. K. Sharan},
  journal={Blood},
  year={2011},
  volume={118 9},
  pages={2430-42}
}
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 persons who are either IVS7 + 2T > G homozygous or compound heterozygous are born alive… CONTINUE READING
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