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[Cancer Research 59, 290-293, January 1, 1999]
© 1999 American Association for Cancer Research
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[Cancer Research 59, 290-293, January 15, 1999]
© 1999 American Association for Cancer Research

Advances in Brief

Human MLH1 Deficiency Predisposes to Hematological Maligancy and Neurofibromatosis Type 11

Marie D. Ricciardone2, Tayfun Özçelik2, Birsen Cevher, Hilal Özdag, Murat Tuncer, Aytemiz Gürgey, Özden Uzunalimoglu, Hülya Çetinkaya, Attila Tanyeli, Eren Erken and Mehmet Öztürk3

Department of Molecular Biology and Genetics, Faculty of Science, Bilkent University, 06533 Ankara, Turkey [M. D. R., T. Ö., B. C., H. Ö., M. Ö.]; Department of Pediatrics, Hacettepe University School of Medicine, 06100 Ankara, Turkey [M. T., A. G.]; Department of Internal Medicine, Ankara University School of Medicine, 06100 Ankara, Turkey [Ö. U., H. Ç.]; and Departments of Pediatrics and Internal Medicine, Çukurova University School of Medicine, 01330 Adana, Turkey [A. T., E. E.]

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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HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Cancer Research Clinical Cancer Research
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Copyright © 1999 by the American Association for Cancer Research.