Recurrent germline mutation in MSH2 arises frequently de novo

Journal of Medical Genetics

Volumn 37, Issue 9, 2000, Pages 646-652

  Desai, D C ^a   Maher, E R ^h   Wright, F A ^b   de la Chapelle, A ^b   Lockman, J C ^b   Chadwick, R B ^b   Gao, X ^b   Percesepe, A ^c   Evans, D G R ^d   Miyaki, M ^e   Yuen, S T ^f   Radice, P ^g  

^a OHIO STATE UNIVERSITY   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^d ST MARY S HOSPITAL   (United Kingdom)

^e TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^f UNIVERSITY OF HONG KONG   (Hong Kong)

^g NATIONAL CANCER INSTITUTE   (Italy)

^h UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

Founder mutation; MSH2; Recurrent mutation; Splice donor site of exon 5

Indexed keywords

ADENINE; MESSENGER RNA; MICROSATELLITE DNA; THYMINE;

ARTICLE; ASIA; BASE MISPAIRING; CLINICAL ARTICLE; COLORECTAL CANCER; CONTROLLED STUDY; DNA REPAIR; EUROPE; EXON; FAMILY; FEMALE; FOUNDER EFFECT; GENE INSERTION; GENE MUTATION; GENE REPLICATION; GENETIC PREDISPOSITION; GENETIC RECOMBINATION; GERM LINE; HAPLOTYPE; HONG KONG; HUMAN; INTRON; ITALY; JAPAN; MALE; PRIORITY JOURNAL; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM;

EID: 0033828829     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.9.646     Document Type: Article

References (36)

1. Genetic mapping of a locus predisposing to human colorectal cancer
2. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
3. HMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds
4. A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome
5. A common MSH2 mutation in English and North American HNPCC families: Origin, phenotypic expression, and sex specific differences in colorectal cancer
6. Characterization of MSH2 and MLH1 mutations in Italian families with hereditary nonpolyposis colorectal cancer
7. Germ line mutations of hMSH2 and hMLH1 genes in Japanese families with hereditary nonpolyposis colorectal cancer (HNPCC): Usefulness of DNA analysis for screening and diagnosis of HNPCC patients
8. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients
9. Frequent microsatellite instability and mismatch repair gene mutations in young Chinese patients with colorectal cancer
10. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer
11. Mean age of tumor onset in hereditary nonpolyposis colorectal cancer (HNPCC) families correlates with the presence of mutations in DNA mismatch repair genes
12. Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary nonpolyposis colorectal cancer kindreds
13. Detection of mutations in mismatch repair genes in Portugese families with hereditary non-polyposis colorectal cancer (HNPCC) by a multi-method approach
14. Antenatal diagnosis of sickle-cell anaemia by DNA analysis of amniotic-fluid cells
15. The origin of the major cystic fibrosis mutation (delta F508) in European populations
16. Linkage disequilibrium mapping in isolated founder populations: Diastrophic dysplasia in Finland
17. Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
18. Heterozygote and mutation detection by direct automated fluorescent DNA sequencing using a mutant Taq DNA polymerase
19. Parametric and nonparametric linkage analysis: A unified multipoint approach
20. Haplotype relative risks: An easy reliable way to construct a proper control sample for risk calculations
21. Nonparametric disequilibrium mapping when haplotypes are available
22. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci
23. Linkage disequilibrium mapping in isolated populations: The example of Finland revisited
24. Human molecular genetics
25. MSH2 genomic deletions are a frequent cause of HNPCC
26. Conversion of diploidy to haploidy
27. Population-based molecular detection of hereditary nonpolyposis colorectal cancer
28. Allelic profiles of mononucleotide repeat microsatellites in control individuals and in colorectal tumors with and without replication errors
29. Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin. Implications for microsatellite instability testing
30. BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms
31. 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
32. Testing tumors for microsatellite instability
33. Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
34. Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer
35. Genetic susceptibility to non-polyposis colorectal cancer