Biallelic Inactivation of BRCA2 in Fanconi Anemia

@article{Howlett2002BiallelicIO,
  title={Biallelic Inactivation of BRCA2 in Fanconi Anemia},
  author={N. Howlett and T. Taniguchi and S. Olson and B. Cox and Q. Waisfisz and C. D. de Die-Smulders and N. Persky and M. Grompe and H. Joenje and G. Pals and H. Ikeda and E. Fox and A. D’Andrea},
  journal={Science},
  year={2002},
  volume={297},
  pages={606 - 609}
}
Fanconi anemia (FA) is a rare autosomal recessive cancer susceptibility disorder characterized by cellular hypersensitivity to mitomycin C (MMC). Six FA genes have been cloned, but the gene or genes corresponding to FA subtypes B and D1 remain unidentified. Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins. Functional complementation of FA-D1 fibroblasts with wild-typeBRCA2 complementary DNA restores MMC… Expand
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