Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.

@article{Hitchins2011DominantlyIC,
  title={Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR.},
  author={Megan P. Hitchins and Robert W. Rapkins and C A Kwok and Sameer Srivastava and Justin J-L Wong and Levon M. Khachigian and Patsie Polly and Jack Goldblatt and Robyn Lynne Ward},
  journal={Cancer cell},
  year={2011},
  volume={20 2},
  pages={200-13}
}
Constitutional epimutations of tumor suppressor genes manifest as promoter methylation and transcriptional silencing of a single allele in normal somatic tissues, thereby predisposing to cancer. Constitutional MLH1 epimutations occur in individuals with young-onset cancer and demonstrate non-Mendelian inheritance through their reversal in the germline. We report a cancer-affected family showing dominant transmission of soma-wide highly mosaic MLH1 methylation and transcriptional repression… CONTINUE READING
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