Concomitant mutations and splice variants in KRAS and BRAF demonstrate complex perturbation of the Ras/Raf signalling pathway in advanced colorectal cancer

Gut

Volumn 58, Issue 9, 2009, Pages 1234-1241

  Seth, R ^a   Crook, S ^a   Ibrahem, S ^a   Fadhil, W ^a   Jackson, D ^a   Ilyas, M ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; K RAS PROTEIN;

ADVANCED CANCER; ARTICLE; CANCER CELL CULTURE; CLINICAL ARTICLE; CODON; COLORECTAL CANCER; CPG ISLAND; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; ONCOGENE K RAS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

ANIMALS; BASE SEQUENCE; CELL LINE, TUMOR; COLORECTAL NEOPLASMS; CONSERVED SEQUENCE; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, RAS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN ISOFORMS; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION;

EID: 68849110472     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gut.2008.159137     Document Type: Article

References (36)

1. Dhomen N, Marais R. New insight into BRAF mutations in cancer. Curr Opin Genet Dev 2007;17:31-9.
2. Malumbres M, Barbacid M. RAS oncogenes: the first 30 years. Nat Rev Cancer 2003;3:459-65.
3. Downward J. Targeting RAS signalling pathways in cancer therapy. Nat Rev Cancer 2003;3:11-22.
4. Jass JR. Colorectal cancer: a multipathway disease. Crit Rev Oncog 2006;12:273-87.
5. Bos J. ras oncogenes in human cancer: a review. Cancer Res 1989;49:4682-9.
6. Feng XD, Huang SG, Shou JY, et al. Analysis of pathway activity in primary tumors and NCI60 cell lines using gene expression profiling data. Genomics Proteomics Bioinformatics 2007;5:15-24.
7. Fearon E, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell 1990;61:759-67.
8. Ilyas M, Straub J, Tomlinson IP, et al. Genetic pathways in colorectal and other cancers. Eur J Cancer 1999;35:335-51.
9. Grand R, Owen D. The biochemistry of ras p21. Biochem J 1991;279:609-31.
10. Feig LA, Cooper GM. Relationship among guanine nucleotide exchange, GTP hydrolysis, and transforming potential of mutated ras proteins. Mol Cell Biol 1988;8:2472-8.
11. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002;417:949-54.
12. Emuss V, Garnett M, Mason C, et al. Mutations of C-RAF are rare in human cancer because C-RAF has a low basal kinase activity compared with B-RAF. Cancer Res 2005;65:9719-26.
13. Domingo E, Schwartz S Jr. BRAF. Atlas of Genetics and Cytogenetics in Oncology and Haematology. 2004. Available from: http:// AtlasGeneticsOncology.org/Genes/BRAFID828. (updated 2004; accessed June 2009).
14. Rajagopalan H, Bardelli A, Lengauer C, et al. Tumorigenesis: RAF/RAS oncogenes and mismatch-repair status. Nature 2002;418:934.
15. Wan P, Garnett M, Roe S, et al. Mechanism of activation of the RAF-ERK signalling pathway by oncogenic mutations of B-RAF. Cell 2004;116:855-67.
16. Minoo P, Moyer MP, Jass JR. Role of BRAF-V600E in the serrated pathway of colorectal tumourigenesis. J Pathol 2007;212:124-33.
17. Weisenberger DJ, Siegmund KD, Campan M, et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet 2006;38:787-93.
18. Singer G, III RO, Cohen Y, et al. Mutations in BRAF and KRAS characterize the development of low-grade ovarian serous carcinoma. J Natl Cancer Inst 2003;95:484-6.
19. Oliveira C, Velho S, Moutinho C, et al. KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression. Oncogene 2007;26:158-63.
20. Michaloglou C, Vredeveld LC, Mooi WJ, et al. BRAF(E600) in benign and malignant human tumours. Oncogene 2008;27:877-95.
21. Benvenuti S, Sartore-Bianchi A, Di Nicolantonio F, et al. Oncogenic activation of the RAS/RAF signaling pathway impairs the response of metastatic colorectal cancers to anti-epidermal growth factor receptor antibody therapies. Cancer Res 2007;67:2643-8.
22. Lievre A, Bachet JB, Boige V, et al. KRAS mutations as an independent prognostic factor in patients with advanced colorectal cancer treated with cetuximab. J Clin Oncol 2008;26:374-9.
23. Lievre A, Bachet JB, Le Corre D, et al. KRAS mutation status is predictive of response to cetuximab therapy in colorectal cancer. Cancer Res 2006;66:3992-5.
24. Wittwer CT, Reed GH, Gundry CN, et al. High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 2003;49:853-60.
25. Thompson J, Gibson T, Plewniak F, et al. The CLUSTAL-X windows interface: flexible strategies for multiple sequence alignment aided by quality analysis tools. Nucleic Acids Res 1997;25:4876-82.
26. Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet 200;41:664-8.
27. Edkins S, O'Meara S, Parker A, et al. Recurrent KRAS codon 146 mutations in human colorectal cancer. Cancer Biol Ther 2006;5:928-32.
28. Thomas RK, Baker AC, Debiasi RM, et al. High-throughput oncogene mutation profiling in human cancer. Nat Genet 2007;39:347-51.
29. Woodford-Richens KL, Rowan AJ, Gorman P, et al. SMAD4 mutations in colorectal cancer probably occur before chromosomal instability, but after divergence of the microsatellite instability pathway. Proc Natl Acad Sci USA 2001;98:9719-23.
30. Bos J, Fearon E, Hamilton S, et al. Prevalence of ras gene mutations in human colorectal cancers. Nature 1987;327:293-7.
31. Wong C, Fan Y, Chan T, et al. BRAF and NRAS mutations are uncommon in melanomas arising in diverse internal organs. J Clin Pathol 2005;58:640-4.
32. Koopman M, Kortman GA, Mekenkamp L, et al. Deficient mismatch repair system in patients with sporadic advanced colorectal cancer. Br J Cancer 2009;100:266-73.
33. Carvajal-Carmona L, Howarth K, Lockett M, et al. Molecular classification and genetic pathways in hyperplastic polyposis syndrome. J Pathol 2007;212:378-85.
34. Barnier J, Papin C, Eychene A, et al. The mouse B-raf gene encodes multiple protein isoforms with tissue-specific expression. J Biol Chem 1995;270:23381-9.
35. van Krieken JH, Jung A, Kirchner T, et al. KRAS mutation testing for predicting response to anti-EGFR therapy for colorectal carcinoma: proposal for an European quality assurance program. Virchows Arch 2008;453:417-31.
36. Jhawer M, Goel S, Wilson AJ, et al. PIK3CA mutation/PTEN expression status predicts response of colon cancer cells to the epidermal growth factor receptor inhibitor cetuximab. Cancer Res 2008 15;68:1953-61.