Molecular approaches for colorectal cancer screening

European Journal of Gastroenterology and Hepatology

Volumn 10, Issue 3, 1998, Pages 213-217

  Jen, Jin ^a   Johnson, Constance ^b   Levin, Bernard ^b  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Aberrant crypt foci; Colorectal cancer screening; Early diagnosis; K ras mutation; Mis match ligation assay; PCR; Stool DNA purification

Indexed keywords

CANCER SCREENING; COLORECTAL CANCER; COST EFFECTIVENESS ANALYSIS; FECES ANALYSIS; GENE MUTATION; HUMAN; MOLECULAR BIOLOGY; ONCOGENE K RAS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVIEW;

EID: 0031899611     PISSN: 0954691X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00042737-199803000-00004     Document Type: Review

References (32)

1. Schottenfeld D. Epidemiology (adenocarcinoma of the colon and rectum). In: Cohen AR, Winawer SJ, editors. Cancer of the colon, rectum and anus. New York: McGraw-Hill; 1995: 7-10.
2. Hamilton SR. The pathology and biology of colorectal neoplasia. In: Young G. Rozen P, Levin B, editors. Prevention and early detection of colorectal cancer. London: WB Saunders; 1996:3-21
3. Fearon E, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990; 61:759-763. This excellent review describes the molecular biology of colorectal cancer. The paper suggests for the first time that colorectal cancer develops as a result of the accumulation of several specific genetic changes involving the activation of oncogene and mactivation of tumour suppressor genes located at chromosomes 5q, 17p and 18q.
4. Liu B, Parsons R, Papadopoulos N, Nicholas NC, Lynch, HT, Watson P, et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nature Med J 1996; 2:169-174.
5. Truszkowski JA, Summers RW. Colorectal neoplasms. Screening can save lives. [review] Postgrad Med J 1995; 98:97-112.
6. Bos JL, Fearon ER, Hamilton SR, Verlaan-De VM, Van Boom JH, van der Eb AJ, et al. Prevalence of ras gene mutations in human colorectal cancers. Nature 1987; 327:293-297.
7. Forrester K, Almoguera C, Han K, Grizzle WE Perucho M. Detection of high incidence of K-ras oncogenes during human colon tumorigenesis. Nature 1987; 327:298-303.
8. Hall PA, Coates PJ, Ansari B, Hopwood D. Regulation of cell number in the mammalian gastrointestinal tract: the importance of apoptosis. J Cell Sci 1994; 107:3569-3577.
9. Morin PJ, Vogelstein B, Kinzler KW. Apoptosis and APC in colorectal tumorigenesis. Proc Natl Acad Sci USA 1996; 93:7950-7954.
10. Byers T, Levin B. Rothenburger D, Dodd GD, Smith RA. American Cancer Society guidelines for screening and surveillance for earky detection of colorectal polyps and cancer. Update 1997. CA Cancer J Clin 1997; 47: 157-160
11. Mandel JS, Bond JH, Church TR, Snover DC, Bradley GM, Schuman LH, Ederer F. Reducing mortality from colorectal cancer by screening for fecal occult blood. Minnesota colon cancer control study. N Engl J Med 1993; 328:1365-1371. A large clinical trial study showing that routine screening for faecal occult blood can save lives.
12. Sidransky D, Tokino T, Hamilton SR, Kinzler KW, Levin B, Frost P, et al. Identification of ras oncogene mutations in the stool of patients with curable colorectal tumors. Science 1992; 256: 102-105. This paper demonstrates for the first time that tumour DNA can be isolated from stool samples and used for genetic diagnosis of colorectal cancer.
13. Kahn SM, Jiang W, Culbertson TA, Weinstein IB, Williams GM, Tomita N, et al. Rapid and sensitive non-radioactive detection of mutant K-ras genes via 'enriched' PCR amplification. Oncogene 1991; 6:1079-1083.
14. Nollau P, Jung, R, Neumaier M, Wagener C. Tumor diagnosis by PCR-base detection of tumor cells. Scand J Clin Invest 1995; 55(suppl 221):116-121.
15. Tobi M, Luo F-C, Ronai Z. Detection of K-ras mutation in colonic effluent samples from patients without evidence of colorectal carcinoma. J Natl Cancer Inst 1994; 86:1007-1010.
16. Chen J, Viola MV. A method to detect ras point mutations in small subpopulations of cells. Anal Biochem 1991; 195:51-56.
17. Nollau P, Moser C, Weinland G, Wagener C. Detection of K-ras mutations in stools of patients with colorectal cancer by mutant-enriched PCR. Int J Cancer 1996; 66:332-336.
18. Stork P, Loda M, Bosari S, Wiley B, Poppenhusen K, Wolfe H. Detection of K-ras mutations in pancreatic and hepatic neoplasms by non-isotopic mismatched polymerase chain reaction. Oncogene 1991; 6:857-862.
19. Hasegawa Y, Takeda S, Ichii S, Koizumi K, Maruyama M, Fujii A, et al. Defection of K-ras mutations in DNAs isolated from feces of patients with colorectal tumors by mutant-allele-specific amplification (MASA). Oncogene 1995; 10:1441-1445.
20. Kwok S, Kellogg DE, McKinney N, Spasic D. Goda L, Levenson C, et al. Effect of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies. Nucleic Acids Res 1990; 18:999-1005.
21. Smith-Ravin, England J, Talbot IC, Bodmer W. Detection of C-Ki-ras mutations in faecal samples from sporadic cotorectal cancer patients. Gut 1995; 36:81-86.
22. Villa E, Dugani A, Rebecchi AM, Vignoli A, Grottola A, Buttafoco et al. Identification of subjects at risk for colorectal carcinoma through a test based on K-ras determination in the stool. Gastroenterology 1996; 110:1346-1353. An interesting paper suggesting that the rate of positive PCR amplification is directly related to the presence of an organic disease of the intestine.
23. Bos JL. Ras oncogenes in human cancer. Cancer Res 1989; 49:4682-4687.
24. Ronai Z, Minamoto T, Butler R, Tobi M, Luo FQ, Zang E, et al. Sampling method as a key factor in identifying K-ras oncogene mutations in preneoplastic colorectal lesions. Cancer Detect Prevent 1995; 19:512-517.
25. Jen J, Powell SM, Papadopoulos N, Smith KJ, Hamilton SR, Vogelstein B, et al. Molecular determinants of dysplasia in colorectal lesions. Cancer Res 1994; 54: 5523-5526. This paper describes a simple and sensitive oligonucleotide-mediated mismatch ligation assay for detecting K-ras gene mutations in small tumour and stool samples.
26. Landegren U, Kaiser R, Sanders J, Hood L. A ligase-mediated gene detection technique. Science 1988; 241:1077-1080.
27. Pretlow TP, Brasitus TA, Fulton NC, Cheyer C, Kaplan EL. K-ras mutations in putative prenoeplastic lesions in human colon. J Natl Cancer Inst 1993; 85:2004-2007.
28. Shibata D, Schaeffer J, Li, ZH, Capella G, Perucho MJ. Genetic heterogeneity of the c-K-ras locus in colorectal adenomas but not in adenocarcinomas. J Natl Cancer Inst 1993; 85: 1058-1062. Using a micro-dissection technique and loss of heterozygosity analysis, the authors show directly that colorectal cancer develops from a clonal population of cells.
29. Eguchi S, Kohara N, Komuta K, Kanematsu T. Mutations of the p53 gene in the stool of patients with resectable colorectal cancer. Cancer 1996; 77:1707-1710.
30. Mao L, Schoenberg MP, Scicchitano M, Erozan Y, Merlo A, Schawab D, et al. Molecular detection of primary bladder cancer by microsatellite analysis. Science 1996; 271:659-662.
31. Nawroz H, Koch W, Anke P, Stroun M, Sidransky D. Microsatellite alterations in serum DNA of head and neck cancer patients. Nature Med 1996; 2:1035-1037. One of the first reports to show that genetic alterations occurring in a tumour can be detected in the serum of the same patient.
32. Hardingham JE, Kotasek D, Sage RE, Eaton MC, Pascoe VH, Dobrovic A. Detection of circulating tumor cells in colorectal cancer by immunobead-PCR is a sensitive prognostic marker for relapse of disease. Nature Med 1995; 1:789-794. A small case study using an epithelial-specific antibody and RT-PCR to show that the detection of K-ras mutant cells in the serum has prognostic value for colorectal cancer patients.