Mutations of BRAF are associated with extensive hMLH1 promoter methylation in sporadic colorectal carcinomas

International Journal of Cancer

Volumn 108, Issue 2, 2004, Pages 237-242

  Koinuma, Koji ^a   Shitoh, Kazuhisa ^a   Miyakura, Yasuyuki ^a   Furukawa, Taiji ^a   Yamashita, Yoshihiro ^a   Ota, Jun ^a   Ohki, Ruri ^a   Choi, Young Lim ^a   Wada, Tomoaki ^a   Konishi, Fumio ^a   Nagai, Hideo ^a   Mano, Hiroyuki ^a,b  

^a JICHI MEDICAL UNIVERSITY   (Japan)

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

BRAF mutation; hMLH1 hypermethylation; Microsatellite instability; Sporadic colorectal cancer

Indexed keywords

BETA CATENIN; DNA METHYLTRANSFERASE; GENOMIC DNA; PROTEIN MLH1;

ADULT; AGED; ARTICLE; BRAF GENE; COLON CARCINOGENESIS; COLORECTAL CARCINOMA; DNA METHYLATION; FEMALE; GENE MUTATION; HMLH1 GENE; HUMAN; IMMUNOHISTOCHEMISTRY; KRAS GENE; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; PROTO ONCOGENE;

ADENOCARCINOMA; ADENOCARCINOMA, MUCINOUS; ADULT; AGED; AGED, 80 AND OVER; BASE PAIR MISMATCH; BETA CATENIN; CARRIER PROTEINS; COLORECTAL NEOPLASMS; CYTOSKELETAL PROTEINS; DNA METHYLATION; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, RAS; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MUTATION; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NEOPLASM STAGING; NUCLEAR PROTEINS; ONCOGENE PROTEINS; PROMOTER REGIONS (GENETICS); PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; TRANS-ACTIVATORS;

EID: 0347382321     PISSN: 00207136     EISSN: None     Source Type: Journal    
DOI: 10.1002/ijc.11523     Document Type: Article

References (39)

1. Kinzler KW, Vogelstein B. Lessons from hereditary colorectal cancer. Cell 1996;87:159-70.
2. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, Powell SM, Jen J, Hamilton SR, Petersen GM, Kinzler KW, et al. Clues to the pathogenesis of familial colorectal cancer. Science 1993;260:812-6.
3. Bos JL, Fearon ER, Hamilton SR, Verlaan-de Vries M, van Boom JH, van der Eb AJ, Vogelstein B. Prevalence of ras gene mutations in human colorectal cancers. Nature 1987;327:293-7.
4. 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.
5. Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417:949-54.
6. Pollock PM, Meltzer PS. A genome-based strategy uncovers frequent BRAF mutations in melanoma. Cancer Cell 2002;2:5-7.
7. Brose MS, Volpe P, Feldman M, Kumar M, Rishi I, Gerrero R, Einhorn E, Herlyn M, Minna J, Nicholson A, Roth JA, Albelda SM, et al. BRAF and RAS mutations in human lung cancer and melanoma. Cancer Res 2002;62:6997-7000.
8. Vojtek AB, Der CJ. Increasing complexity of the Ras signaling pathway. J Biol Chem 1998;273:19925-8.
9. Magee T, Marshall C. New insights into the interaction of Ras with the plasma membrane. Cell 1999;98:9-12.
10. Rajagopalan H, Bardelli A, Lengauer C, Kinzler KW, Vogelstein B, Velculescu VE. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002;418:934.
11. Aaltonen LA, Peltomaki P, Mecklin JP, Jarvinen H, Jass JR, Green JS, Lynch HT, Watson P, Tallqvist G, Juhola M. Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res 1994;54:1645-8.
12. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, Kane M, Kolodner R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993;75:1027-38.
13. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergard P, Bollag RJ, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994;368:258-61.
14. Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, Jessup JM, Kolodner R. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997;57:808-11.
15. Cunningham JM, Christensen ER, Tester DJ, Kim CY, Roche PC, Burgart LJ, Thibodeau SN. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res 1998;58:3455-60.
16. Veigl ML, Kasturi L, Olechnowicz J, Ma AH, Lutterbaugh JD, Periyasamy S, Li GM, Drummond J, Modrich PL, Sedwick WD, Markowitz SD. Biallelic inactivation of hMLH1 by epigenetic gene silencing, a novel mechanism causing human MSI cancers. Proc Natl Acad Sci USA 1998;95:8698-702.
17. Kuismanen SA, Holmberg MT, Salovaara R, Schweizer P, Aaltonen LA, de La Chapelle A, Nystrom-Lahti M, Peltomaki P. Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers. Proc Natl Acad Sci USA 1999;96:12661-6.
18. Malkhosyan SR, Yamamoto H, Piao Z, Perucho M. Late onset and high incidence of colon cancer of the mutator phenotype with hypermethylated hMLH1 gene in women. Gastroenterology 2000;119:598.
19. Young J, Simms LA, Biden KG, Wynter C, Whitehall V, Karamatic R, George J, Goldblatt J, Walpole I, Robin SA, Borten MM, Stitz R, et al. Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. Am J Pathol 2001;159:2107-16.
20. Hawkins N, Norrie M, Cheong K, Mokany E, Ku SL, Meagher A, O'Connor T, Ward R. CpG island methylation in sporadic colorectal cancers and its relationship to microsatellite instability. Gastroenterology 2002;122:1376-87.
21. Miyakura Y, Sugano K, Konishi F, Ichikawa A, Maekawa M, Shitoh K, Igarashi S, Kotake K, Koyama Y, Nagai H. Extensive methylation of hMLH1 promoter region predominates in proximal colon cancer with microsatellite instability. Gastroenterology 2001;121:1300-9.
22. Miyakura Y, Sugano K, Konishi F, Fukayama N, Igarashi S, Kotake K, Matsui T, Koyama Y, Maekawa M, Nagai H. Methylation profile of the MLH1 promoter region and their relationship to colorectal carcinogenesis. Genes Chromosomes Cancer 2003;36:17-25.
23. Sparks AB, Morin PJ, Vogelstein B, Kinzler KW. Mutational analysis of the APC/beta-catenin/Tcf pathway in colorectal cancer. Cancer Res 1998;58:1130-4.
24. Shitoh K, Furukawa T, Kojima M, Konishi F, Miyaki M, Tsukamoto T, Nagai H. Frequent activation of the beta-catenin-Tcf signaling pathway in nonfamilial colorectal carcinomas with microsatellite instability. Genes Chromosomes Cancer 2001;30:32-7.
25. 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;59:3346-51.
26. Furukawa T, Konishi F, Masubuchi S, Shitoh K, Nagai H, Tsukamoto T. Densely methylated MLH1 promoter correlates with decreased mRNA expression in sporadic colorectal cancers. Genes Chromosomes Cancer 2002;35:1-10.
27. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S. 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 1998;58:5248-57.
28. Konishi M, Kikuchi-Yanoshita R, Tanaka K, Muraoka M, Onda A, Okumura Y, Kishi N, Iwama T, Mori T, Koike M, Ushio K, Chiba M, et al. Molecular nature of colon tumors in hereditary nonpolyposis colon cancer, familial polyposis, and sporadic colon cancer. Gastroenterology 1996;111:307-17.
29. Jass JR, Biden KG, Cummings MC, Simms LA, Walsh M, Schoch E, Meltzer SJ, Wright C, Searle J, Young J, Leggett BA. Characterisation of a subtype of colorectal cancer combining features of the suppressor and mild mutator pathways. J Clin Pathol 1999;52:455-60.
30. Suraweera N, Duval A, Reperant M, Vaury C, Furlan D, Leroy K, Seruca R, Iacopetta B, Hamelin R. Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002;123:1804-11.
31. Kolch W. Meaningful relationships: the regulation of the Ras/Raf/MEK/ERK pathway by protein interactions. Biochem J 2000;351(Pt 2):289-305.
32. Peyssonnaux C, Eychene A. The Raf/MEK/ERK pathway: new concepts of activation. Biol Cell 2001;93:53-62.
33. Barnier JV, Papin C, Eychene A, Lecoq O, Calothy G. The mouse B-raf gene encodes multiple protein isoforms with tissue-specific expression. J Biol Chem 1995;270:23381-9.
34. Yuen ST, Davies H, Chan TL, Ho JW, Bignell GR, Cox C, Stephens P, Edkins S, Tsui WW, Chan AS, Futreal PA, Stratton MR, et al. Similarity of the phenotypic patterns associated with BRAF and KRAS mutations in colorectal neoplasia. Cancer Res 2002;62:6451-5.
35. Herman JG, Umar A, Polyak K, Graff JR, Ahuja N, Issa JP, Markowitz S, Willson JK, Hamilton SR, Kinzler KW, Kane MF, Kolodner RD, et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci USA 1998;95:6870-5.
36. Esteller M, Toyota M, Sanchez-Cespedes M, Capella G, Peinado MA, Watkins DN, Issa JP, Sidransky D, Baylin SB, Herman JG. Inactivation of the DNA repair gene O6-methylguanine-DNA methyltransferase by promoter hypermethylation is associated with G to A mutations in K-ras in colorectal tumorigenesis. Cancer Res 2000;60:2368-71.
37. Esteller M, Risques RA, Toyota M, Capella G, Moreno V, Peinado MA, Baylin SB, Herman JG. Promoter hypermethylation of the DNA repair gene O(6)-methylguanine-DNA methyltransferase is associated with the presence of G:C to A:T transition mutations in p53 in human colorectal tumorigenesis. Cancer Res 2001;61:4689-92.
38. Lee JT Jr, McCubrey JA. The Raf/MEK/ERK signal transduction cascade as a target for chemotherapeutic intervention in leukemia. Leukemia 2002;16:486-507.
39. Sebolt-Leopold JS. Development of anticancer drugs targeting the MAP kinase pathway. Oncogene 2000;19:6594-9.