Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma [2]

Journal of Medical Genetics

Volumn 38, Issue 7, 2001, Pages 461-466

  Chadwick, R B ^a   Pyatt, R E ^a   Niemann, T H ^a   Richards, S K ^a   Johnson, C K ^a   Stevens, M W ^a   Meek, J E ^a   Hampel, H ^a   Prior, T W ^a   De la Chapelle, A ^a  

^a THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN MLH1; PROTEIN MSH2; UNCLASSIFIED DRUG;

ADULT; AGED; BASE MISPAIRING; DNA REPAIR; ENDOMETRIUM CANCER; FEMALE; GENE AMPLIFICATION; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HUMAN; LETTER; MAJOR CLINICAL STUDY; MICROSATELLITE INSTABILITY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADENOCARCINOMA; ADULT; AGED; AGED, 80 AND OVER; BASE PAIR MISMATCH; BASE SEQUENCE; CARRIER PROTEINS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA REPAIR; DNA-BINDING PROTEINS; ENDOMETRIAL NEOPLASMS; EXONS; FEMALE; FRAMESHIFT MUTATION; GERM-LINE MUTATION; HUMANS; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTAGENESIS; MUTATION; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PROTO-ONCOGENE PROTEINS;

EID: 0034933542     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (41)

1. Extracolonic cancer in hereditary nonpolyposis colorectal cancer
2. Cancer risk in mutation carriers of DNA-mismatch-repair genes
3. Cancer risk associated with germline DNA mismatch repair gene mutations
4. Genetic susceptibility to nonpolyposis colorectal cancer
5. Population-based molecular detection of hereditary nonpolyposis colorectal cancer
6. Mutations in DNA mismatch repair genes are not responsible for microsatellite instability in most sporadic endometrial carcinomas
7. Mutational analysis of mismatch repair genes, hMLH1 and hMSH2, in sporadic endometrial carcinomas with microsatellite instability
8. Absence of mutations in DNA mismatch repair genes in sporadic endometrial tumors with microsatellite instability
9. Causes and consequences of microsatellite instability in endometrial carcinoma
10. Mutational analysis of MLH1 and MSH2 in 25 prospectively-acquired RER+ endometrial cancers
11. Familial endometrial cancer in female carriers of MSH6 germline mutations
12. 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
13. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations
14. Clinical and pathological significance of microsatellite instability in sporadic endometrial carcinoma
15. Microsatellite instability in endometrial carcinoma
16. Genetic instability of microsatellites in endometrial carcinoma
17. Microsatellite instability in cervical and endometrial carcinomas
18. hMLH1 promoter hypermethylation is an early event in human endometrial tumorigenesis
19. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas
20. MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers
21. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
22. Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites
23. Testing tumors for microsatellite instability
24. BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms
25. Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing
26. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease
27. Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families
28. Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae
29. Analysis of mismatch repair genes in hereditary nonpolyposis colorectal cancer patients
30. Identification of germline mutations in hereditary nonpolyposis colorectal cancer using base excision sequence scanning analysis
31. CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations
32. MSH2 codon 322 Gly to Asp seems not to confer an increased risk for colorectal cancer susceptibility
33. Frameshift mutator mutations
34. Microsatellite instability in the insulin-like growth factor II receptor gene in gastrointestinal tumours
35. Analysis of MSH3 in endometrial cancers with defective DNA mismatch repair
36. Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability
37. Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype
38. Frequent frameshift mutations of the TCF-4 gene in colorectal cancers with microsatellite instability
39. The DNA repair gene MBD4 (MED1) is mutated in human carcinomas with microsatellite instability
40. Candidate tumor suppressor RIZ is frequently involved in colorectal carcinogenesis