Detection of up to 65% of precancerous lesions of the human colon and rectum by mutation analysis of APC, K-Ras, B-Raf and CTNNB1

Cancers

Volumn 3, Issue 1, 2011, Pages 91-105

  Schneider, Mandy ^a   Scholtka, Bettina ^a   Gottschalk, Uwe ^b   Faiss, Siegbert ^c   Schatz, Daniela ^d   Berghof Jäger, Kornelia ^d   Steinberg, Pablo ^a,e  

^a UNIVERSITY OF POTSDAM   (Germany)

^b Abteilung Innere Medizin Gastroenterologie   (Germany)

^c ASKLEPIOS HOSPITAL BARMBEK   (Germany)

^d BIOTECON Diagnostics GmbH   (Germany)

^e UNIVERSITY OF VETERINARY MEDICINE HANNOVER   (Germany)

Author keywords

Adenomas; APC; B Raf; CTNNB1; Gene mutations; Human colon; K Ras; Primer panel; Serrated lesions

Indexed keywords

BETA CATENIN; WNT PROTEIN;

APC GENE; ARTICLE; B RAF GENE; COLORECTAL CANCER; CONTROLLED STUDY; CTNNB1 GENE; DNA SEQUENCE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN TISSUE; K RAS GENE; MARKER GENE; MUTATIONAL ANALYSIS; PRECANCER; RECTUM CANCER; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STOP CODON;

EID: 79953690541     PISSN: None     EISSN: 20726694     Source Type: Journal    
DOI: 10.3390/cancers3010091     Document Type: Article

References (40)

1. Vogelstein, B.; Kinzler, K.W. The multistep nature of cancer. Trends Genet. 1993, 9, 138-141.
2. Fearon, E.R.; Vogelstein, B. A genetic model for colorectal tumorigenesis. Cell 1990, 61, 759-767.
3. Vogelstein, B.; Fearon, E.R.; Hamilton, S.R.; Kern, S.E.; Preisinger, A.C.; Leppert, M.; Nakamura, Y.; White, R., Smits, A.M.; Bos, J.L. Genetic alterations during colorectal-tumor development. N. Engl. J. Med. 1988, 319, 525-532.
4. Giaretti, W.; Venesio, T.; Prevosto, C.; Lombardo, F.; Ceccarelli, J.; Molinu, S.; Risio, M. Chromosomal instability and APC gene mutations in human sporadic colorectal adenomas. J. Pathol. 2004, 204, 193-199.
5. Smith, A.J.; Stern, H.S.; Penner, M.; Hay, K.; Mitri, A.; Bapat; B.V.; Gallinger, S. Somatic APC and K-ras codon 12 mutations in aberrant crypt foci from human colons. Cancer Res. 1994, 54, 5527-5530.
6. Sparks, A.B.; Morin, P.J.; Vogelstein, B.; Kinzler, K.W. Mutational analysis of the APC/β-catenin/Tcf pathway in colorectal cancer. Cancer Res. 1998, 58, 1130-1134.
7. Mirabelli-Primdahl, L.; Gryfe, R.; Kim, H.; Millar, A.; Luceri, C.; Dale, D.; Holowaty, E.; Bapat, B.; Gallinger, S.; Redston, M. Beta-catenin mutations are specific for colorectal carcinomas with microsatellite instability but occur in endometrial carcinomas irrespective of mutator pathway. Cancer Res. 1999, 59, 3346-3351.
8. Fukushima, H.; Yamamoto, H.; Itoh, F.; Horiuchi, S.; Min, Y.; Iku, S.; Imai, K. Frequent alterations of the beta-catenin and TCF-4 genes, but not of the APC gene, in colon cancers with high-frequency microsatellite instability. J. Exp. Clin. Cancer Res. 2001, 20, 553-559.
9. Løvig, T.; Meling, G.I.; Diep, C.B.; Thorstensen, L.; Norheim Andersen, S.; Lothe, R.A.; Rognum, T.O. APC and CTNNB1 mutations in a large series of sporadic colorectal carcinomas stratified by the microsatellite instability status. Scand. J. Gastroenterol. 2002, 37, 1184-1193.
10. Longacre, T.A.; Fenoglio-Preiser, C.M. Mixed hyperplastic adenomatous polyps/serrated adenomas. A distinct form of colorectal neoplasia. Am. J. Surg. Pathol. 1990, 14, 524-537.
11. Kambara, T.; Simms, L.A.; Whitehall, V.L.J.; Spring, K.J.; Wynter, C.V.; Walsh, M.D.; Barker, M.A.; Arnold, S.; McGivern, A.; Matsubara, N.; Tanaka, N.; Higuchi, T.; Young, J.; Jass, J.R.; Leggett, B.A. B-RAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum. Gut 2004, 53, 1137-1144.
12. Jass, J.R. Classification of colorectal cancer based on correlation of clinical, morphological and molecular features. Histopathology 2007, 50, 113-130.
13. Leggett, B.; Whitehall, V. Role of the serrated pathway in colorectal cancer pathogenesis. Gastroenterology 2010, 138, 2088-2100.
14. Jass, J.R.; Baker, K.; Zlobec, I.; Higuchi, T.; Barker, M.; Buchanan, D.; Young, J. Advanced colorectal polyps with the molecular and morphological features of serrated polyps and adenomas: concept of a μfusion' pathway to colorectal cancer. Histopathology 2006, 49, 121-131.
15. Chan, T.L.; Zhao, W.; Leung, S.Y.; Yuen, S.T. B-RAF and K-RAS mutations in colorectal hyperplastic polyps and serrated adenomas. Cancer Res. 2003, 63, 4878-4881.
16. Yang, S.; Farraye, F.A.; Mack, C.; Posnik, O.; O'Brien, M.J. B-RAF and K-RAS mutations in hyperplastic polyps and serrated adenomas of the colorectum: relationship to histology and CpG island methylation status. Am. J. Surg. Pathol. 2004, 28, 1452-1459.
17. Velho, S.; Moutinho, C.; Cirnes, L.; Albuquerque, C.; Hamelin, R.; Schmitt, F.; Carneiro, F.; Oliveira, C.; Seruca, R. BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis? BMC Cancer 2001, 8, 255-260.
18. Spinney, L. Cancer: Caught in time. Nature 2006, 442, 736-738.
19. Steinberg, P.; Scholtka, B. Method for conducting non-invasive early detection of colon cancer and/or of colon cancer precursor cells. US Patent: 0,172,823 A1, 2007.
20. Scholtka, B.; Schneider, M.; Melcher, R.; Katzenberger, T.; Friedrich, D.; Berghof-Jäger, K.; Scheppach, W.; Steinberg, P. A gene marker panel covering the Wnt and the Ras-Raf-M EKMAPK signaling pathways allows to detect gene mutations in eighty percent of early (U ICC I) colon cancer stages in humans. Cancer Epidemiol. 2009, 33, 123-129.
21. Ikehara, N.; Semba, S.; Sakashita, M.; Aoyama, N.; Kasuga, M.; Yokozaki, H. B-RAF mutation associated with dysregulation of apoptosis in human colorectal neoplasms. Int. J. Cancer 2005, 115, 943-950.
22. Fogt, F.; Brien, T.; Brown, C.A.; Hartmann, C.J.; Zimmerman, R.L.; Odze, R.D. Genetic alterations in serrated adenomas: Comparison to conventional adenomas and hyperplastic polyps. Hum. Pathol. 2002, 33, 87-91.
23. Kann, L.; Han, J.; Ahlquist, D.; Levin, T.; Rex, D.; Whitney, D.; Markowitz, S.; Shuber, A. Improved marker combination for detection of de novo genetic variation and aberrant DNA in colorectal neoplasia. Clin. Chem. 2006, 52, 2299-2302.
24. Cosmic database "Catalogue of Somatic Mutations in Cancer". Available online: http://www.sanger.ac.uk/ (accessed on 29 December 2010).
25. Zauber, P.; Sabbath-Solitare, M.; Marotta, S.; Zauber, A.; Bishop, T. Comparative molecular pathology of sporadic hyperplastic polyps and neoplastic lesions from the same individual. J. Clin. Pathol. 2004, 57, 1084-1088.
26. Lamlum, H.; Papadopoulou, A.; Ilyas, M.; Rowan, A.; Gillet, C.; Hanby, A.; Talbot, I.; Bodmer, W.; Tomlinson, I. APC mutations are sufficient for the growth of early colorectal adenomas. Proc. Natl. Acad. Sci. USA 2000, 97, 2225-2228.
27. Sawyer, E.J.; Cerar, A.; Hanby, A.M.; Gorman, P.; Arends, M.; Talbot, I.C.; Tomlinson, I.P. M olecular characteristics of serrated adenomas of the colorectum. Gut 2002, 51, 200-206.
28. Akiyama, Y.; Yagi, O.K.; Ishikawa, T.; Nagasaki, H.; Saitoh, K.; Yuasa, Y. Genetic alterations are frequent in APC but rare in the TGF-E type II receptor gene in cancer in adenomas of the colon. Cancer Lett. 1998, 125, 89-96.
29. Johnson, V.; Volikos, E.; Halford, S.E.; Eftekhar Sadat, E.T.; Popat, S.; Talbot, I.; Truninger, K.; Martin, J.; Jass, J.; Houlston, R.; Atkin, W.; Tomlinson, I.P.; Silver, A.R. Exon 3 β-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome. Gut 2005, 54, 264-267.
30. Kim, I.J.; Kang, H.C.; Park, J.H.; Shin, Y.; Ku, J.L.; Lim, S.B.; Park, S.Y.; Jung, S.Y.; Kim, H.K.; Park, J.G. Development and applications of a beta-catenin oligonucleotide microarray: betacatenin mutations are dominantly found in the proximal colon cancers with microsatellite instability. Clin. Cancer Res. 2003, 9, 2920-2925.
31. Sweeney, C.; Boucher, K.M.; Samowitz, W.S.; Wolff, R.K.; Albertsen, H.; Curtin, K.; Caan, B.J.; Slattery, M.L. Oncogenetic tree model of somatic mutations and DNA methylation in colon tumors. Genes Chromosomes Cancer 2009, 48, 1-9.
32. Tighe, A.; Johnson, V.L.; Taylor, S.S. Truncating APC mutations have dominant effects on proliferation, spindle checkpoint control, survival and chromosome stability. J. Cell Sci. 2004, 17, 6339-6353.
33. Konishi, K.; Yamochi, T.; Makino, R.; Kaneko, K.; Yamamoto, T.; Nozawa, H.; Katagiri, A.; Ito, H.; Nakayama, K.; Ota, H.; Mitamura, K.; Imawari, M. Molecular differences between sporadic serrated and conventional colorectal adenomas. Clin. Cancer Res. 2004, 10, 3082-3090.
34. Rajagopalan, H.; Bardelli, A.; Lengauer, C.; Kinzler, K.W.; Vogelstein, B.; Velculescu, V.E. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002, 418, 934.
35. Samowitz WS, Albertsen H, Sweeney C, Herrick J, Caan BJ, Anderson KE, Wolff RK, Slattery ML: Association of smoking, CpG island methylator phenotype, and V600E BRAF mutations in colon cancer. J. Natl. Cancer Inst. 2006, 98, 1731-1738.
36. Deng, G.; Kakar, S.; Tanaka, H.; Matsuzaki, K.; Miura, S.; Sleisenger, M.H.; Kim, Y.S. Proximal and distal colorectal cancers show distinct gene-specific methylation profiles and clinical and molecular characteristics. Eur. J. Cancer 2008, 44, 1290-1301.
37. Slattery, M.L.; Curtin, K.; Wolff, R.K.; Boucher, K.M.; Sweeney, C.; Edwards, S.; Caan, B.J.; Samowitz, W. A comparison of colon and rectal somatic DNA alterations. Dis. Colon Rectum 2009, 52, 1304-1311.
38. Suraweera, N.; Robinson, J.; Volikos, E.; Guenther, T.; Talbot, I.; Tomlinson, I.; Silver, A. Mutations within Wnt pathway genes in sporadic colorectal cancers and cell lines. Int. J. Cancer 2006, 119, 1837-1842.
39. Soreide, K.; Janssen, E.A.; Soiland, H.; Korner, H.; Baak, J.P. Microsatellite instability in colorectal cancer. Br. J. Surg. 2006, 93, 395-406.
40. Schimanski, C.C.; Linnemann, U.; Berger, M.R. Sensitive detection of K-ras mutations augments diagnosis of colorectal cancer metastases in the liver. Cancer Res. 1999, 59, 5169-5175.