Genotype and phenotype of a new 2-bp deletion of hMSH2 at codon 233

Virchows Archiv

Volumn 439, Issue 2, 2001, Pages 191-195

  Muller A ^a   Beyser, K ^b   Arps, H ^c   Bolander, S ^a   Becker, H ^a   Ruschhoff J ^b  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b KLINIKUM KASSEL   (Germany)

^c KLINIKUM FULDA   (Germany)

Author keywords

Breast cancer; Genotype phenotype correlation; Hereditary nonpolyposis colorectal cancer (HNPCC)

Indexed keywords

GENE PRODUCT; PROTEIN MSH2; UNCLASSIFIED DRUG;

ARTICLE; COLON CARCINOGENESIS; COLORECTAL CANCER; GENE DELETION; GENOTYPE; HUMAN; HUMAN TISSUE; MICROSATELLITE INSTABILITY; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CHILD, PRESCHOOL; CODON; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GERM-LINE MUTATION; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTS HOMOLOG 2 PROTEIN; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS; SEQUENCE DELETION;

EID: 0034879473     PISSN: 09456317     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004280100413     Document Type: Article

References (24)

1. Clues to the pathogenesis of familial colorectal cancer
2. Microsatellite instability is uncommon in breast cancer
3. 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 colon cancer
4. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colorectal cancer
5. Diagnostic microsatellite instability: Definition and correlation with mismatch repair protein expression
6. The human mutator gene homologue MSH2 and its association with hereditary nonpolyposis colorectal cancer
7. Recognition and treatment of patients with hereditary non-polyposis colorectal cancer
8. Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer
9. Infrequent occurrence of microsatellite instability in sporadic and familial breast cancer
10. Tumor variation in the cancer family syndrome: Ovarian cancer
11. Laryngeal carcinoma in a Lynch syndrome 2 kindred
12. Tumor variation in three extended Lynch syndrome 2 kindreds
13. Genetics, natural history, tumor spectrum and pathology of hereditary nonpolyposis colorectal cancer: An updated review
14. The Lynch syndromes
15. Colorectal cancer, survival advantage, and hereditary nonpolyposis colorectal carcinoma
16. Mutations of two PMS homologues in hereditary nonpolyposis colorectal cancer
17. Survival analysis in families affected by hereditary non-polyposis colorectal cancer
18. Genetic transmission of colorectal cancer: Exploratory data analysis from a population based registry
19. Prevalence of hereditary nonpolyposis colorectal carcinoma (HNPCC)
20. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome
21. A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda Guideline
22. Microsatellite instability: New aspects in the carcinogenesis of colorectal carcinomas
23. Microsatellite instability in cancer of the proximal colon
24. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes