Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.

@article{Sevenet1999SpectrumOH,
  title={Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.},
  author={Nicolas Sevenet and Arielle Lellouch-Tubiana and Darren J Schofield and Kh{\^e} Hoang-Xu{\^a}n and M. Gessler and Daniel Birnbaum and C{\'e}cile Jeanpierre and Anne Jouvet and Olivier Delattre},
  journal={Human molecular genetics},
  year={1999},
  volume={8 13},
  pages={
          2359-68
        }
}
The hSNF5/INI1 gene which encodes a member of the SWI/SNF chromatin ATP-dependent remodeling complex, is a new tumor suppressor gene localized on chromosome 22q11.2 and recently shown to be mutated in malignant rhabdoid tumors. We have searched for hSNF5/INI1 mutations in 229 tumors of various origins using a screening method based on denaturing high-performance liquid chromatography. A total of 31 homozygous deletions and 36 point alterations were identified. Point mutations were scattered… CONTINUE READING

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