Population-based molecular detection of hereditary nonpolyposis colorectal cancer

Journal of Clinical Oncology

Volumn 18, Issue 11, 2000, Pages 2193-2200

  Salovaara, Reijo ^a   Loukola, Anu ^a   Kristo, Paula ^a   Kääriäinen, Helena ^a   Ahtola, Heikki ^a   Eskelinen, Matti ^a   Härkönen, Niilo ^a   Julkunen, Risto ^a   Kangas, Eero ^a   Ojala, Seppo ^a   Tulikoura, Jukka ^a   Valkamo, Erkki ^a   Järvinen, Heikki ^a   Mecklin, Jukka Pekka ^a   Aaltonen, Lauri A ^a   De La Chapelle, Albert ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CANCER RISK; CANCER SCREENING; COLORECTAL CANCER; CONTROLLED STUDY; ENDOMETRIUM CANCER; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; MICROSATELLITE INSTABILITY; PRIORITY JOURNAL;

EID: 0034129240     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2000.18.11.2193     Document Type: Article

References (49)

1. Lynch HT, Smyrk TC: Hereditary nonpolyposis colorectal cancer (Lynch syndrome): An updated review. Cancer 78:1149-1167, 1996
2. Kinzler KW, Vogelstein B: Lessons from hereditary colorectal cancer. Cell 18:159-170, 1996
3. Boland CR: Hereditary nonpolyposis colorectal cancer, in Vogelstein B, Kinzler KW (eds): The Genetic Basis of Human Cancer. New York, NY, McGraw-Hill, 1998, pp33-346
4. Vasen HF, Mecklin J-P, Khan PM, et al: The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum 34:424-425, 1991
5. Vasen HF, Watson P, Mecklin JP, et al: New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC. Gastroenterology 116:1453-1456, 1999
6. Peltomäki P, de la Chapelle A: Mutations predisposing to hereditary nonpolyposis colorectal cancer, in Vande Woude GF, Klein G (eds): Advances in Cancer Research. San Diego, CA, Academic Press, 1997, pp 93-119
7. Eng C, Wijg J: Genetic testing: The problems and the promise. Nat Biotechnol 15:422-426, 1997
8. Aaltonen LA, Salovaara R, Kristo P, et al: Incidence of hereditary nonpolyposis colorectal cancer, and molecular screening for the disease. N Engl J Med 1338:1481-1487, 1998
9. Wijnen J, van der Klift H, Vasen H, et al: MSH2 genomic deletions are a frequent cause of HNPCC. Nat Genet 20:326-328, 1998
10. Peltomäki P, Vasen H: Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study - The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 113:1146-1158, 1997
11. Miyaki M, Konishi M, Tanaka K, et al: Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. Nature Genet 17:271-272, 1997
12. Akiyama Y, Sato H, Yamada T, et al: Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res 57:3920-3923, 1997
13. Verma L, Kane MF, Brassett C, et al: Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer. J Med Genet 36:678-682, 1999
14. Chabner BA, Haluska FG, Talcott JA: Screening strategies for cancer. JAMA 277:1475-1476, 1997
15. Giardiello FM, Hamilton SR, Krush AJ, et al: Treatment of colonic and rectal adenomas with sulindac in familial adenomatous polyposis. N Engl J Med 328:1313-1316, 1993
16. Järvinen HJ, Mecklin J-P, Sistonen P: Screening reduces colorectal cancer rate in hereditary nonpolyposis colorectal cancer (HNPCC) families. Gastroenterology 108:1404-1411, 1995
17. Järvinen JH, Aarnio M, Mustonen H, et al: Controlled 15-year trial on screening for colorectal cancer in hereditary nonpolyposis colorectal families. Gastroenterology (in press)
18. Beaudet AL: Making genomic medicine a reality. Am J Hum Genet 64:1-13, 1999
19. Wijnen JT, Vasen HFA, Khan PM, et al: Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 339:511-518, 1998
20. Loukola A, de la Chapelle A, Aaltonen LA: Strategies to screen for hereditary nonpolyposis colorectal cancer. J Med Genet 36:819-822, 1999
21. Aaltonen LA, Peltomäki P, Leach FS, et al: Clues to the pathogenesis of familial colorectal cancer. Science 260:812-816, 1993
22. Boland CR, Thibodeau SN, Hamilton SR, et al: 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 58:5248-5257, 1998
23. Kyllönen LEJ, Teppo, L, Lehtonen M: Completeness and accuracy of registration of colorectal cancer in Finland. Ann Chir Gynaecol 76:185-190, 1987
24. Teppo L, Pukkala E, Lehtonen M: Data quality and quality control of a population-based cancer registry. Experience in Finland. Acta Oncol 33:365-369, 1994
25. Cancer Society: Cancer Incidence in Finland: Cancer statistics of the National Research and Development Centre for Welfare and Health. Helsinki, Finland, Cancer Society publication no. 57, 1996
26. Hoang JM, Cottu PH, Thuille B, et al: BAT-26, an indicator of the replication error phenotype in colorectal cancers and cell lines. Cancer Res 57:300-303, 1997
27. Zhou XP, Hoang JM, Cottu P, et al: Allelic profiles of mononucleotide repeat microsatellites in control individuals and in colorectal tumors with and without replication errors. Oncogene 15:1713-1718, 1997
28. Zhou XP, Hoang JM, Li YJ, et al: Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites. Genes Chromosomes Cancer 21:101-107, 1998
29. Sutter C, Gebert J, Bischoff P, et al: Molecular screening of potential HNPCC patients using a multiplex microsatellite PCR system. Mol Cell Probes 13:157-165, 1999
30. de la Chapelle A: Testing tumors for microsatellite instability. Eur J Hum Genet 7:407-408, 1999
31. Samowitz WS, Slattery ML, Potter JD, et al: BAT-26 and BAT-40 instability in colorectal adenomas and carcinomas and germline polymorphisms. Am J Pathol 154:1637-1641, 1999
32. Pyatt R, Chadwick RB, Johnson CK, et al: Polymorphic variation at the BAT-25 and BAT-26 loci in individuals of African origin: Implications for microsatellite instability testing. Am J Pathol 155:349-353, 1999
33. Nyström-Lahti M, Wu Y, Moisio A-L, et al: DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary nonpolyposis colorectal cancer. Hum Mol Genet 5:763-769, 1996
34. Nyström-Lahti M, Kristo P, Nicolaides NC, et al: Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nature Med 1:1203-1206, 1995
35. Maliaka YK, Chudina AP, Belev NF, et al: CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. Hum Genet 97:251-255, 1996
36. Liu B, Nicolaides NC, Markowitz S, et al, Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nature Genet 9:48-55, 1995
37. Shimodaira H, Filosi N, Shibata H, et al: Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae. Nature Genet 19:384-389, 1998
38. Moore DS, McCabe GP: Introduction to the Practice of Statistics (ed 2). New York, NY, WH Freeman & Co, 1993, p 854
39. Landis SH, Taylor M, Bolden S: Cancer statistics, 1998. CA Cancer J Clin 48:6-29, 1998
40. Lerman C, Hughes C, Trock BJ, et al: Genetic testing in families with hereditary nonpolyposis colon cancer. JAMA 17:1618-1622, 1999
41. Andrykowski MA, Lightner R, Studts JL, et al: Hereditary cancer risk notification and testing: How interested is the general population? J Clin Oncol 15:2139-2148, 1997
42. Geller G, Botkin JR, Green MJ, et al: Genetic testing for susceptibility to adult-onset cancer. JAMA 277:1468-1474, 1997
43. Vasen HF, van Ballegooijen M, Buskens E, et al: A cost-effectiveness analysis of colorectal screening of hereditary nonpolyposis colorectal carcinoma gene carriers. Cancer 82:1632-1637, 1998
44. Aaltonen LA, Peltomäki P, Mecklin J-P, et al: Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 54:1645-1648, 1994
45. Lynch HT, Smyrk TC: Identifying hereditary nonpolyposis colorectal cancer. N Engl J Med 338:1537-1538, 1998
46. Kane MF, Loda M, Gaida GM, et al: Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon cancer patients and controls. Am J Hum Genet 63:749-759, 1998
47. Dunlop M, Farrington S, Carothers A., et al: Cancer risk associated with germline DNA mismatch repair gene mutations. Hum Molec Genet 6:105-110, 1997
48. Farrington SM, Lin-Goerke J, Ling J, et al: Systematic analysis of hMSH2 and hMLH1 in young colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 57:808-811, 1996
49. Lynch HT, de la Chapelle A: Genetic susceptibility to nonpolyposis colorectal cancer. J Med Genet 36:801-818, 1999