Clinical consequences of molecular diagnosis in families with mismatch repair gene germline mutations

International Journal of Colorectal Disease

Volumn 15, Issue 5-6, 2000, Pages 255-263

  Pistorius, Steffen R ^a   Kruppa, Christian ^a   Haas, Stephan ^a   Plaschke, Jens ^a   Kruger, Stefan ^a   Bulitta, Clemens J ^b   Nagel, Michael ^a   Saeger, Hans Detlev ^a   Schackert, Hans K ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Germline mutations; Hereditary nonpolyposis colorectal cancer; Surveillance program

Indexed keywords

MICROSATELLITE DNA;

ADULT; ARTICLE; BASE MISPAIRING; COLORECTAL CANCER; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CARRIER; DISEASE CLASSIFICATION; DNA REPAIR; FAMILY HISTORY; FAMILY STUDY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HEALTH SURVEY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MEDICAL DECISION MAKING; MICROSATELLITE INSTABILITY; MOLECULAR DYNAMICS; MOLECULAR GENETICS; PRACTICE GUIDELINE; PRIORITY JOURNAL; SURGICAL TECHNIQUE; TREATMENT PLANNING; TUMOR DIAGNOSIS;

ADOLESCENT; ADULT; CARRIER PROTEINS; CHILD; COLORECTAL NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA-BINDING PROTEINS; EXONS; FAMILY HEALTH; FEMALE; GENETIC SCREENING; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; PROTO-ONCOGENE PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0033673693     PISSN: 01791958     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003840000261     Document Type: Article

References (38)

1. The International Collaborative Group on Hereditary Non-polyposis Colorectal Cancer (ICG-HNPCC)
2. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC
3. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
4. Structure of the human MLH1 locus and analysis of a large hereditary nonpolyposis colorectal carcinoma kindred for mlhl mutations
5. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for MSH2 mutations
6. Mutation in the DNA mismach repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer
7. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients
8. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer
9. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred
10. Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer
11. Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer
12. Gatekeepers and caretakers
13. Clues to pathogenesis of familial colorectal cancer
14. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients
15. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients
16. Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer
17. Lifetime risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome
18. Cancer risk associated with germline DNA mismatch repair gene mutations
19. Characteristics of small bowel carcinoma in hereditary nonpolyposis colorectal carcinoma
20. Urinary tract cancer and hereditary nonpolyposis colorectal cancer: Risks and screening options
21. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis
22. Hereditary colorectal cancer: Clinical consequences of predictive molecular testing
23. A national cancer institute workshop on hereditary nonpolyposis colorectal cancer syndrome: Meeting highlights and Bethesda guidelines
24. 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
25. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations
26. Clinical surveillance recommendations adopted for HNPCC
27. Recommendations for follow-up care of individuals with inherited predisposition to cancer
28. Colorectal cancer screening: Clinical guidelines and rationale
29. Family history characteristics, tumor microsatellite instability and germline MSH2 and MLH1 mutations in hereditary colorectal cancer
30. Influence of selection criteria on mutation detection in patients with hereditary non-polyposis colorectal cancer
31. Germline 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
32. Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer
33. Update on colorectal cancer
34. Database and results of a collaborative study
35. Proof of ″disease causing″ mutation
36. Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae
37. Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae
38. Genetic testing and surgical decision making in hereditary colorectal cancer