Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia.

@article{Alotaibi2008HomozygosityAV,
  title={Homozygosity at variant MLH1 can lead to secondary mutation in NF1, neurofibromatosis type I and early onset leukemia.},
  author={Hani Alotaibi and Marie D. Ricciardone and Mehmet Fatih Ozturk},
  journal={Mutation research},
  year={2008},
  volume={637 1-2},
  pages={209-14}
}
Heterozygous germ-line variants of DNA mismatch repair (MMR) genes predispose individuals to hereditary non-polyposis colorectal cancer. Several independent reports have shown that individuals constitutionally homozygous for MMR allelic variants develop early onset hematological malignancies often associated to features of neurofibromatosis type 1 (NF1) syndrome. The genetic mechanism of NF1 associated to MMR gene deficiency is not fully known. We report here that a child with this form of NF1… CONTINUE READING

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