Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1 |
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Authors: | MD Ricciardone T Oz?elik B Cevher H Ozda? M Tuncer A Gürgey O Uzunalimo?lu H Cetinkaya A Tanyeli E Erken M Oztürk |
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Affiliation: | Department of Molecular Biology and Genetics, Faculty of Science, Bilkent University, Ankara, Turkey. |
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Abstract: | Heterozygous germ-line mutations in the DNA mismatch repair genes lead to hereditary nonpolyposis colorectal cancer. The disease susceptibility of individuals who constitutionally lack both wild-type alleles is unknown. We have identified three offspring in a hereditary nonpolyposis colorectal cancer family who developed hematological malignancy at a very early age, and at least two of them displayed signs of neurofibromatosis type 1 (NF1). DNA sequence analysis and allele-specific amplification in two siblings revealed a homozygous MLH1 mutation (C676T-->Arg226Stop). Thus, a homozygous germ-line MLH1 mutation and consequent mismatch repair deficiency results in a mutator phenotype characterized by leukemia and/or lymphoma associated with neurofibromatosis type 1. |
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