Germline and somatic mutations in hMSH6 and hMSH3 in gastrointestinal cancers of the microsatellite mutator phenotype

Gene

Volumn 272, Issue 1-2, 2001, Pages 301-313

  Ohmiya, Naoki ^a   Matsumoto, Sandra ^a   Yamamoto, Hiroyuki ^a   Baranovskaya, Svetlana ^a   Malkhosyan, Sergei R ^a   Perucho, Manuel ^a  

^a BURNHAM INSTITUTE   (United States)

Author keywords

Frameshifts; Microsatellite instability; Mismatch repair; Polymorphisms

Indexed keywords

MICROSATELLITE DNA; PROTEIN HMSH3; PROTEIN HMSH6; PROTEIN MLH1; PROTEIN MSH2; RNA; TUMOR PROTEIN; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; BASE MISPAIRING; CARCINOGENESIS; COLON CANCER; CONTROLLED STUDY; DIGESTIVE SYSTEM CANCER; ENDOMETRIUM CANCER; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE SEQUENCE; GERM LINE; HUMAN; HUMAN CELL; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE REPEAT; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE HOMOLOGY; SOMATIC MUTATION; STOMACH CANCER;

AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; DNA-BINDING PROTEINS; FRAMESHIFT MUTATION; GASTROINTESTINAL NEOPLASMS; GENE FREQUENCY; GENOTYPE; GERM-LINE MUTATION; HUMANS; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MULTIDRUG RESISTANCE-ASSOCIATED PROTEINS; MUTATION; PHENOTYPE; SEQUENCE HOMOLOGY, AMINO ACID; TUMOR CELLS, CULTURED; VARIATION (GENETICS);

EID: 0035844994     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0378-1119(01)00517-0     Document Type: Article

References (35)

1. Clues to the pathogenesis of familial colorectal cancer
2. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred
3. High resolution deletion mapping reveals frequent allelic losses at the DNA mismatch repair loci hMLH1 and hMSH3 in non-small cell lung cancer
4. National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
5. The microsatellite mutator phenotype of colon cancer cells is often recessive
6. Mutator phenotypes of common polymorphisms and missense mutations in MSH2
7. Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells
8. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis
9. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines
10. Lessons from hereditary colorectal cancer
11. Biochemistry and genetics of eukaryotic mismatch repair
12. Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers
13. The crystal structure of DNA mismatch repair protein MutS binding to a G x T mismatch
14. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability
15. Errors in DNA replication as a basis of malignant changes
16. Frameshift mutator mutations
17. Mismatch repair deficiency associated with overexpression of the MSH3 gene
18. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer
19. Crystal structures of mismatch repair protein MutS and its complex with a substrate DNA
20. Alternative genetic pathways in colorectal carcinogenesis
21. hMSH6 alterations in patients with microsatellite instability-low colorectal cancer
22. Genetic and epigenetic modification of MLH1
23. Mismatch repair genes and mononucleotide tracts as mutation targets in colorectal tumors with different degrees of microsatellite instability
24. Cancer of the microsatellite mutator phenotype
25. Correspondence (re: A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer, Cancer Res, 1998, 58, 5248-5257)
26. Defects in replication fidelity of simple repeated sequences reveal a new mutator mechanism for oncogenesis
27. Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype
28. Frameshift mutation at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype
29. Microsatellite instability in cancer of the proximal colon
30. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes
31. CpG island methylator phenotype in colorectal cancer
32. MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis
33. Frameshift somatic mutations in gastrointestinal cancer of the microsatellite mutator phenotype
34. Frameshift mutations in Fas, Apaf-1, and Bcl-10 in gastro-intestinal cancer of the microsatellite mutator phenotype