Article detail · 1999
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.
Journal
PubMed- Year
- 1999
- Type
- article
Data source split
- YÖKSİS venue PubMed
- OpenAlex OpenAlex enrichment (abstract, citations, topics)
Abstract
OpenAlex · English
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.
Topics
Citations
OpenAlex cited_by_count. Not a WoS or Scopus citation count; those sources have no separate column here.
254 citations
OpenAlex cited_by_count (cache / database)
7 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).
- Homozygosity at variant MLH1 can lead to secondary mutation in NF1 neurofibromatosis type I and early onset leukemia 2008
- Genomic landscape of the Greater Middle East 2016
- Genomic landscape of the Greater Middle East 2016
- Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene 2006
- Analysis of MYH Tyr165Cys and Gly382Asp variants in childhood leukemias 2003
- Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots: A Case Report. 2020
- Constitutional Mismatch Repair Gene Defect Syndrome Presenting With Adenomatous Polyposis and Cafe au Lait Spots 2019