Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer
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Summary
It is reported that a human gene encoding a protein, hMLHl (human MutL homologue), homologous to the bacterial DNA mismatch repair protein MutL, is located on human chromosome 3p21.3-23.
- Type
- article
- Published
- 1994-03-17
- Cited by
- 2,184
- References
- 25
- OpenAlex
- https://openalex.org/W2053827853
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4365629
Keywords
Genetics, DNA mismatch repair, MLH1, Biology, Locus (genetics)
References
- Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review.
- Nucleotide sequence of the Salmonella typhimurium mutL gene required for mismatch repair: homology of MutL to HexB of Streptococcus pneumoniae and to PMS1 of the yeast Saccharomyces cerevisiae
- Dual requirement in yeast DNA mismatch repair for MLH1 and PMS1, two homologs of the bacterial mutL gene
- Characterization of insertion mutations in the Saccharomyces cerevisiae MSH1 and MSH2 genes: evidence for separate mitochondrial and nuclear functions.
- Meiotic gene conversion mutants in Saccharomyces cerevisiae. I. Isolation and characterization of pms1-1 and pms1-2.
- Direct Analysis of Single Nucleotide Variation in Human DNA and RNA Using In Situ Dot Hybridization
- The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer.
- Rapid physical mapping of cloned DNA on banded mouse chromosomes by fluorescence in situ hybridization.
- Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
- Microsatellite instability in cancer of the proximal colon.
- Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair
- Mechanisms and biological effects of mismatch repair.
- Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer
- High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones.
- Clues to the pathogenesis of familial colorectal cancer.
- Presence of two members of c-erbA receptor gene family (c-erbA beta and c-erbA2) in smallest region of somatic homozygosity on chromosome 3p21-p25 in human breast carcinoma.
- Specificity of mismatch repair following transformation of Saccharomyces cerevisiae with heteroduplex plasmid DNA.
- High frequencies of short frameshifts in poly-CA/TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12
- Loss of heterozygosity of chromosome 3p markers in small-cell lung cancer
- Cloning and nucleotide sequence of DNA mismatch repair gene PMS1 from Saccharomyces cerevisiae: homology of PMS1 to procaryotic MutL and HexB
Cited by
- Biological considerations in lung cancer.
- Cis and trans-acting elements in somatic hypermutation
- Mutation analysis of APC gene in gastric cancer with microsatellite instability.
- Prevention of Colorectal Cancer by Endoscopic Polypectomy
- Mutagenesis of yeast MW104-1B strain has identified the uncharacterized PMS6 DNA mismatch repair gene locus and additional alleles of existing PMS1, PMS2 and MSH2 genes.
- Microallelotyping defines the sequence and tempo of alleiic losses at tumour suppressor gene loci during colorectal cancer progression
- A hPMS2 Mutant Cell Line Is Defective in Strand-specific Mismatch Repair (*)
- Multiple Pathways Leading to Genomic Instabiligy and Tumorigenesis
- The role of individual susceptibility in cancer burden related to environmental exposure.
- Complex genetic predisposition to cancer in an extended HNPCC family with an ancestral hMLH1 mutation.
- Extracting protein alignment models from the sequence database.
- Cancer cells exhibit a mutator phenotype.
- Molecular advances in the etiology and treatment of colorectal cancer.
- Incidence of DNA replication errors in patients with multiple primary cancers
- Genetics of Colonic Cancer
- Point mutations of ornithine decarboxylase gene are an infrequent event in colorectal cancer but a missense mutation was found in a replication error positive patient with hMSH2 germline mutation.
- Genetics of colorectal cancer.
- Molecular diagnostics of cancer predisposition: hereditary non-polyposis colorectal carcinoma and mismatch repair defects.
- Altered expression of hMLH1 and hMSH2 protein in endometrial carcinomas with microsatellite instability.
- Can hair be used to screen for breast cancer?
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