Exon 19 of EGFR mutation in relation to the CA-repeat polymorphism in intron 1

Cancer Science

Volumn 99, Issue 6, 2008, Pages 1180-1187

  Sueoka Aragane, Naoko ^a   Imai, Kazue ^a   Komiya, Kazutoshi ^a   Sato, Akemi ^a   Tomimasu, Rika ^a   Hisatomi, Takashi ^a   Sakuragi, Toru ^b   Mitsuoka, Masahiro ^b   Hayashi, Shinichiro ^a   Nakachi, Kei ^a   Sueoka, Eisaburo ^a  

^a SAGA UNIVERSITY   (Japan)

^b RADIATION EFFECTS RESEARCH FOUNDATION   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR RECEPTOR; MESSENGER RNA;

AGED; ALLELE; ARTICLE; CELL GROWTH; CONTROLLED STUDY; DINUCLEOTIDE REPEAT; EXON; EXON 19; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC TRANSCRIPTION; HEREDITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; INTRON; INTRON 1; LUNG ADENOCARCINOMA; LUNG CANCER; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SQUAMOUS CELL CARCINOMA;

ADENOCARCINOMA; AGED; BLOTTING, WESTERN; BRAIN NEOPLASMS; BRONCHI; CARCINOMA, SQUAMOUS CELL; CELLS, CULTURED; DINUCLEOTIDE REPEATS; DNA, NEOPLASM; EPITHELIAL CELLS; EXONS; FEMALE; HUMANS; INTRONS; LUNG NEOPLASMS; MALE; MUTATION; NEOPLASM STAGING; PLEURAL EFFUSION, MALIGNANT; POLYMORPHISM, GENETIC; RECEPTOR, EPIDERMAL GROWTH FACTOR; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SKIN NEOPLASMS;

EID: 43549113654     PISSN: 13479032     EISSN: 13497006     Source Type: Journal    
DOI: 10.1111/j.1349-7006.2008.00804.x     Document Type: Article

References (40)

1. 'Cancer Statistics in Japan' Editorial Board. Number of deaths and proportional mortality rates from malignant neoplasms by site in Japan (2005). In: Nomura K, Sobue T, Nakatani H et.al., eds. Cancer Statistics in Japan-2005. Tokyo: Foundation for Promotion Cancer Research, 2005; 36-9.
2. Mountain CF, Dresler CM. Regional lymph node classification for lung cancer staging. Chest 1997; 111: 1718-23.
3. Lynch TJ, Bell DW, Sordella R et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N Engl J Med 2004; 350: 2129-39.
4. Paez JG, Janne PA, Lee JC et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 2004; 304: 1497-500.
5. Mitsudomi T, Kosaka T, Endoh H et al. Mutations of the epidermal growth factor receptor gene predict prolonged survival after gefitinib treatment in patients with non-small-cell lung cancer with postoperative recurrence. J Clin Oncol 2005; 23: 2513-20.
6. Shepherd FA, Rosell R. Weighing tumor biology in treatment decisions for patients with non-small cell lung cancer. J Thorac Oncol 2007; 2: S68-76.
7. Kosaka T, Yatabe Y, Endoh H, Kuwano H, Takahashi T, Mitsudomi T. Mutations of the epidermal growth factor receptor gene in lung cancer: biological and clinical implications. Cancer Res 2004; 64: 8919-23.
8. Tokumo M, Toyooka S, Kiura K et al. The relationship between epidermal growth factor receptor mutations and clinicopathologic features in non-small cell lung cancers. Clin Cancer Res 2005; 11: 1167-73.
9. Tomizawa Y, Iijima H, Sunaga N et al. Clinicopathologic significance of the mutations of the epidermal growth factor receptor gene in patients with non-small cell lung cancer. Clin Cancer Res 2005; 11: 6816-22.
10. Sueoka N, Sato A, Eguchi H et al. Mutation profile of EGFR gene detected by denaturing high-performance liquid chromatography in Japanese lung cancer patients. J Cancer Res Clin Oncol 2007; 133: 93-102.
11. Fukuoka M, Yano S, Giaccone G et al. Multi-institutional randomized phase II trial of gefitinib for previously treated patients with advanced non-small-cell lung cancer (The IDEAL 1 Trial). J Clin Oncol 2003; 21: 2237-46.
12. Politi K, Zakowski MF, Fan PD, Schonfeld EA, Pao W, Varmus HE. Lung adenocarcinomas induced in mice by mutant EGF receptors found in human lung cancers respond to a tyrosine kinase inhibitor or to down-regulation of the receptors. Genes Dev 2006; 20: 1496-510.
13. Ishii S, Xu YH, Stratton RH, Roe BA, Merlino GT, Pastan I. Characterization and sequence of the promoter region of the human epidermal growth factor receptor gene. Proc Natl Acad Sci USA 1985; 82: 4920-4.
14. Johnson AC, Ishii S, Jinno Y, Pastan I, Merlino GT. Epidermal growth factor receptor gene promoter. Deletion analysis and identification of nuclear protein binding sites. J Biol Chem 1988; 263: 5693-9.
15. Kageyama R, Merlino GT, Pastan I. Epidermal growth factor (EGF) receptor gene transcription. Requirement for Sp1 and an EGF receptor-specific factor. J Biol Chem 1988; 263: 6329-36.
16. Maekawa T, Imamoto F, Merlino GT, Pastan I, Ishii S. Cooperative function of two separate enhancers of the human epidermal growth factor receptor proto-oncogene. J Biol Chem 1989; 264: 5488-94.
17. Chi DD, Hing AV, Helms C, Steinbrueck T, Mishra SK, Donis-Keller H. Two chromosome 7 dinucleotide repeat polymorphisms at gene loci epidermal growth factor receptor (EGFR) and pro alpha 2 (I): Collagen (COL1A2). Hum Mol Genet 1992; 1: 135.
18. Gebhardt F, Zanker KS, Brandt B. Modulation of epidermal growth factor receptor gene transcription by a polymorphic dinucleotide repeat in intron 1. J Biol Chem 1999; 274: 13176-80.
19. Zhang W, Weissfeld JL, Romkes M, Land SR, Grandis JR, Siegfried JM. Association of the EGFR intron 1 CA repeat length with lung cancer risk. Mol Carcinog 2007; 46: 372-80.
20. Lee SJ, Kim KM, Chae MH et al. No association between dinucleotide repeat polymorphism in intron 1 of the epidermal growth factor receptor gene EGFR and risk of lung cancer. Cancer Genet Cytogenet 2007; 172: 29-32.
21. Han SW, Jeon YK, Lee KH et al. Intron 1 CA dinucleotide repeat polymorphism and mutations of epidermal growth factor receptor and gefitinib responsiveness in non-small-cell lung cancer. Pharmacogenet Genomics 2007; 17: 313-19.
22. Amador ML, Oppenheimer D, Perea S et al. An epidermal growth factor receptor intron 1 polymorphism mediates response to epidermal growth factor receptor inhibitors. Cancer Res 2004; 64: 9139-43.
23. Liu W, Innocenti F, Chen P, Das S, Cook EH Jr, Ratain MJ. Interethnic difference in the allelic distribution of human epidermal growth factor receptor intron 1 polymorphism. Clin Cancer Res 2003; 9: 1009-12.
24. Buerger H, Gebhardt F, Schmidt H et al. Length and loss of heterozygosity of an intron 1 polymorphic sequence of egfr is related to cytogenetic alterations and epithelial growth factor receptor expression. Cancer Res 2000; 60: 854-7.
25. Nomura M, Shigematsu H, Li L et al. Polymorphisms, mutations, and amplification of the EGFR gene in non-small cell lung cancers. Plos Med 2007; 4: 715-27.
26. Taron M, Ichinose Y, Rosell R et al. Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor are associated with improved survival in gefitinib-treated chemorefractory lung adenocarcinomas. Clin Cancer Res 2005; 11: 5878-85.
27. Xu XC, Lee JJ, Wu TT, Hoque A, Ajani JA, Lippman SM. Increased retinoic acid receptor-beta4 correlates in vivo with reduced retinoic acid receptor-beta2 in esophageal squamous cell carcinoma. Cancer Epidemiol Biomarkers Prev 2005; 14: 826-9.
28. Sueoka N, Lee HY, Walsh GL, Hong WK, Kurie JM. Posttranslational mechanisms contribute to the suppression of specific cyclin: CDK complexes by all-trans retinoic acid in human bronchial epithelial cells. Cancer Res 1999; 59: 3838-44.
29. Brandt B, Meyer-Staeckling S, Schmidt H, Agelopoulos K, Buerger H. Mechanisms of egfr gene transcription modulation: Relationship to cancer risk and therapy response. Clin Cancer Res 2006; 12: 7252-60.
30. Bandyopadhyay D, Mandal M, Adam L, Mendelsohn J, Kumar R. Physical interaction between epidermal growth factor receptor and DNA-dependent protein kinase in mammalian cells. J Biol Chem 1998; 273: 1568-73.
31. Dittmann K, Mayer C, Fehrenbacher B et al. Radiation-induced epidermal growth factor receptor nuclear import is linked to activation of DNA-dependent protein kinase. J Biol Chem 2005; 280: 31182-9.
32. Das AK, Chen BP, Story MD, Sato M, Minna JD, Chen DJ, Nirodi CS. Somatic mutations in the tyrosine kinase domain of epidermal growth factor receptor (EGFR) abrogate EGFR-mediated radioprotection in non-small cell lung carcinoma. Cancer Res 2007; 67: 5267-74.
33. Smith GC, Jackson SP. The DNA-dependent protein kinase. Genes Dev 1999; 13: 916-34.
34. Mondello C, Rebuzzini P, Dolzan M, Edmonson S, Taccioli GE, Giulotto E. Increased gene amplification in immortal rodent cells deficient for the DNA-dependent protein kinase catalytic subunit. Cancer Res 2001; 61: 4520-5.
35. Espejel S, Martin M, Klatt P, Martin-Caballero J, Flores JM, Blasco MA. Shorter telomeres, accelerated ageing and increased lymphoma in DNA-PKcs-deficient mice. EMBO Rep 2004; 5: 503-9.
36. Difilippantonio MJ, Zhu J, Chen HT et al. DNA repair protein Ku80 suppresses chromosomal aberrations and malignant transformation. Nature 2000; 404: 510-14.
37. Yang SH, Mechanic LE, Yang P et al. Mutations in the tyrosine kinase domain of the epidermal growth factor receptor in non-small cell lung cancer. Clin Cancer Res 2005; 11: 2106-10.
38. Marchetti A, Martella C, Felicioni L et al. EGFR mutations in non-small-cell lung cancer: Analysis of a large series of cases and development of a rapid and sensitive method for diagnostic screening with potential implications on pharmacologic treatment. J Clin Oncol 2005; 23: 857-65.
39. Cappuzzo F, Hirsch FR, Rossi E et al. Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer. J Natl Cancer Inst 2005; 97: 643-55.
40. Le Calvez F, Mukeria A, Hunt JD et al. TP53 and KRAS mutation load and types in lung cancers in relation to tobacco smoke: Distinct patterns in never, former, and current smokers. Cancer Res 2005; 65: 5076-83.