Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients

International Journal of Biological Markers

Volumn 27, Issue 4, 2012, Pages

  Bozzao, Cristina ^a   Varvara, Dora ^a   Piglionica, Marilidia ^a   Bagnulo, Rosanna ^a   Forte, Giovanna ^a   Patruno, Margherita ^a   Russo, Silvana ^a   Piscitelli, Domenico ^a   Stella, Alessandro ^a   Resta, Nicoletta ^a  

^a UNIVERSITY OF BARI   (Italy)

Author keywords

Anti EGFR therapy; BRAF; Colorectal cancer; KRAS; PIK3CA

Indexed keywords

B RAF KINASE; GENOMIC DNA; K RAS PROTEIN; PHOSPHATIDYLINOSITOL 3 KINASE;

ADULT; AGED; ARTICLE; COLORECTAL CANCER; DNA EXTRACTION; FEMALE; GENE MUTATION; GENE SEQUENCE; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; METASTASIS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PREVALENCE;

ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RAS; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; NEOPLASM METASTASIS; PHOSPHATIDYLINOSITOL 3-KINASES; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS B-RAF; RAS PROTEINS; TUMOR MARKERS, BIOLOGICAL;

EID: 84872846788     PISSN: 03936155     EISSN: 17246008     Source Type: Journal    
DOI: 10.5301/JBM.2012.9765     Document Type: Article

References (44)

1. Jemal A, Siegel R, Ward E, Hao Y, Xu J, Thun MJ. Cancer statistics, 2009. CA Cancer J Clin 2009; 59: 225-49.
2. Center MM, Jemal A, Smith RA, Ward E. Worldwide variations in colorectal cancer. CA Cancer J Clin 2009; 59: 366-78.
3. Waldner MJ, Neurath MF. The molecular therapy of colorectal cancer. Mol Aspects Med 2010; 31: 171-8.
4. Siena S, Sartore-Bianchi A, Di Nicolantonio F, Balfour J, Bardelli A. Biomarkers predicting clinical outcome of epidermal growth factor receptor-targeted therapy in metastatic colorectal cancer. J Natl Cancer Inst 2009; 101: 1308-24.
5. Meyerhardt JA, Mayer RJ. Systemic therapy for colorectal cancer. N Engl J Med 2005; 352: 476-87.
6. Normanno N, Tejpar S, Morgillo F, De Luca A, Van Cutsem E, Ciardiello F. Implications for KRAS status and EGFRtargeted therapies in metastatic CRC. Nat Rev Clin Oncol 2009; 6: 519-27.
7. Symvoulakis EK, Zaravinos A, Panutsopulos D, Zoras O, Papalambros E, Sigala F, Spandidos DA. Highly conserved sequence of exon 15 BRAF gene and KRAS codon 12 mutation among Greek patients with colorectal cancer. Int J Biol Markers 2007; 22: 12-8.
8. Lièvre 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.
9. 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.
10. Bardelli A, Siena S. Molecular mechanisms of resistance to cetuximab and panitumumab in colorectal cancer. J Clin Oncol 2010; 28: 1254-61.
11. Amado RG, Wolf M, Peeters M, et al. Wild-type KRAS is required for panitumumab efficacy in patients with metastatic colorectal cancer. J Clin Oncol 2008; 26: 1626-34.
12. Mao C, Liao RY, Qiu LX, Wang XW, Ding H, Chen. QBRAF V600E mutation and resistance to anti-EGFR monoclonal antibodies in patients with metastatic colorectal cancer: a meta-analysis. Mol Biol Rep 2011; 38: 2219-23.
13. Li WQ, Kawakami K, Ruszkiewicz A, Bennett G, Moore J, Iacopetta B. BRAF mutations are associated with distinctive clinical, pathological and molecular features of colorectal cancer independently of microsatellite instability status. Mol Cancer 2006; 5: 2.
14. Sartore-Bianchi A, Martini M, Molinari F, et al. PIK3CA mutations in colorectal cancer are associated with clinical resistance to EGFR-targeted monoclonal antibodies. Cancer Res 2009; 69: 1851-7.
15. Samuels Y, Waldman T. Oncogenic mutations of PIK3CA in human cancers. Curr Top Microbiol Immunol 2010; 347: 21-41.
16. Zhao L, Vogt PK. Helical domain and kinase domain mutations in p110alpha of phosphatidylinositol 3-kinase induce gain of function by different mechanisms. Proc Natl Acad Sci U S A 2008; 105: 2652-7.
17. De Roock W, Claes B, Bernasconi D, et al. Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. Lancet Oncol 2010; 11: 753-62.
18. 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; 68: 1953-61.
19. Janku F, Lee JJ, Tsimberidou AM, et al. PIK3CA mutations frequently coexist with RAS and BRAF mutations in patients with advanced cancers. PloS One 2011; 6: e22769.
20. Li HT, Lu YY, An YX, Wang X, Zhao QC. KRAS, BRAF and PIK3CA mutations in human colorectal cancer: relationship with metastatic colorectal cancer. Oncol Rep 2011; 25: 1691-7.
21. Prenen H, De Schutter J, Jacobs B, et al. PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer. Clin Cancer Res 2009; 15: 3184-8.
22. Baldus SE, Schaefer KL, Engers R, Hartleb D, Stoecklein NH, Gabbert HE. Prevalence and heterogeneity of KRAS, BRAF, and PIK3CA mutations in primary colorectal adenocarcinomas and their corresponding metastases. Clin Cancer Res 2010; 16: 790-9.
23. Deng G, Bell I, Crawley S, et al. BRAF mutation is frequently present in sporadic colorectal cancer with methylated hMLH1, but not in hereditary nonpolyposis colorectal cancer. Clin Cancer Res 2004; 10: 191-5.
24. Simi L, Pratesi N, Vignoli M, et al. High-resolution melting analysis for rapid detection of KRAS, BRAF, and PIK3CA gene mutations in colorectal cancer. Am J Clin Pathol 2008; 130: 247-53.
25. Herreros-Villanueva M, Rodrigo M, Claver M, et al. KRAS, BRAF, EGFR and HER2 gene status in a Spanish population of colorectal cancer. Mol Biol Rep 2011; 38: 1315-20.
26. Ličar A, Cerkovnik P, Novaković S. Distribution of some activating KRAS and BRAF mutations in Slovene patients with colorectal cancer. Med Oncol 2011; 28: 1048-53.
27. Sartore-Bianchi A, Bencardino K, Di Nicolantonio F, et al. Integrated molecular dissection of the epidermal growth factor receptor (EFGR) oncogenic pathway to predict response to EGFR-targeted monoclonal antibodies in metastatic colorectal cancer. Target Oncol 2010; 5: 19-28.
28. Sartore-Bianchi A, Bencardino K, Cassingena A, et al. Therapeutic implications of resistance to molecular therapies in metastatic colorectal cancer. Cancer Treat Rev 2010; 36: S1-5.
29. Tol J, Dijkstra JR, Klomp M, et al. Markers for EGFR pathway activation as predictor of outcome in metastatic colorectal cancer patients treated with or without cetuximab. Eur J Cancer 2010; 46: 1997-2009.
30. Kato S, Iida S, Higuchi T, et al. PIK3CA mutation is predictive of poor survival in patients with colorectal cancer. Int J Cancer 2007; 121: 1771-8.
31. Whitehall V, Rickman C, Bond C, et al. Oncogenic PIK3CA mutations in colorectal cancers and polyps. Int J Cancer 2012; 131: 813-20.
32. Benvenuti S, Frattini M, Arena S, et al. PIK3CA cancer mutations display gender and tissue specificity patterns. Hum Mutat 2008; 29: 284-8.
33. Tie J, Gibbs P, Lipton L, et al. Optimizing targeted therapeutic development: analysis of a colorectal cancer patient population with the BRAF(V600E) mutation. Int J Cancer 2011; 128: 2075-84.
34. Berg M, Danielsen SA, Ahlquist T, et al. DNA sequence profiles of the colorectal cancer critical gene set KRASBRAF- PIK3CA-PTEN-TP53 related to age at disease onset. PLoS One 2010; 5: e13978.
35. Symvoulakis EK, Zaravinos A, Zoras O, Spandidos DA. KRAS and BRAF mutation status in patients with sporadic colorectal cancer: data from two different Mediterranean countries. Int J Biol Markers 2011; 26: 276-7.
36. Symvoulakis EK, Zaravinos A, Panutsopulos D, et al. Highly conserved sequence of exon 15 BRAF gene and KRAS codon 12 mutation among Greek patients with colorectal cancer. Int J Biol Markers 2007; 22: 12-8.
37. Nosho K, Kawasaki T, Ohnishi M, et al. PIK3CA mutation in colorectal cancer: relationship with genetic and epigenetic alterations. Neoplasia 2008; 10: 534-51.
38. Gonzalez EC, Roetzheim RG, Ferrante JM, Campbell R. Predictors of proximal vs. distal colorectal cancers. Dis Colon Rectum 2001; 44: 251-8.
39. Bruin SC, He Y, Mikolajewska-Hanclich I, et al. Molecular alterations associated with liver metastases development in colorectal cancer patients. Br J Cancer 2011; 105: 281-7.
40. Baas JM, Krens LL, Guchelaar HJ, Morreau H, Gelderblom H. Concordance of Predictive markers for EGFR inhibitors in primary tumors and metastases in colorectal cancer: a review. Oncologist 2011; 16: 1239-49.
41. Artale S, Sartore-Bianchi A, Veronese SM, et al. Mutations of KRAS and BRAF in primary and matched metastatic sites of colorectal cancer. J Clin Oncol 2008; 26: 4217-9.
42. Santini D, Loupakis F, Vincenzi B, et al. High concordance of KRAS status between primary colorectal tumors and related metastatic sites: implications for clinical practice. Oncologist 2008; 13: 1270-5.
43. Velho S, Moutinho C, Cirnes L, et al. BRAF, KRAS and PIK3CA mutations in colorectal serrated polyps and cancer: primary or secondary genetic events in colorectal carcinogenesis? BMC Cancer 2008; 8: 255.
44. Bouchahda M, Karaboué A, Saffroy R, et al. Acquired KRAS mutations during progression of colorectal cancer metastases: possible implications for therapy and prognosis. Cancer Chemother Pharmacol 2010; 66: 605-9.