Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1

Date

1999

Authors

Ricciardone, M. D.
Özçelik, T.
Cevher, B.
Özdaǧ, H.
Tuncer, M.
Gürgey, A.
Uzunalimoǧlu, O.
Çetinkaya, H.
Tanyeli, A.
Erken, E.

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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.

Source Title

Cancer Research

Publisher

American Association for Cancer Research

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Published Version (Please cite this version)

Language

English