Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene

@article{Rosa2000EvidenceFA,
  title={Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene},
  author={Marina de Ara{\'u}jo Rosa and Carlo Fasano and Luigi Panariello and Maria Irene Scarano and Giulio Belli and Antonio Iannelli and Fabio Ciciliano and Paola Izzo},
  journal={Oncogene},
  year={2000},
  volume={19},
  pages={1719-1723}
}
Turcot's syndrome is a genetic disease characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas. We report a Turcot family with no parental consanguinity, in which two affected sisters, with no history of tumors in their parents, died of a brain tumor and of a colorectal tumor, respectively, at a very early age. The proband had a severe microsatellite instability (MIN) phenotype in both tumor and normal colon mucosa, and mutations in the TGF… CONTINUE READING

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