Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

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Article

Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Cancer research - 15 Jan 1999

Ricciardone M D, Ozçelik T, Cevher B, Ozdağ H, Tuncer M, Gürgey A, Uzunalimoğlu O, Cetinkaya H, Tanyeli A, Erken E, Oztürk M

Abstract excerpt

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 ca...

Topics

Adaptor Proteins, Signal Transducing
Carrier Proteins
DNA
DNA Repair
Female
Genetic Predisposition to Disease
Germ-Line Mutation
Hematologic Neoplasms
Humans
Male
MutL Protein Homolog 1
Neoplasm Proteins
Neurofibromatosis 1
Nuclear Proteins

Source

Open in PubMed

Identifiers

PMID: 9927033

Genes

MLH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9927033-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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