Выпускная квалификационная работа (ВКР) на тему "Изучение частот мутаций гена egfr в 4 экзонах у больных раком лёгких г Ханой (Вьетнам)"
1
Дипломная работа (ВКР) Тюмгу (Тюменский Государственный Университет). Готовая дипломная работа на тему "Изучение частот мутаций гена egfr в 4 экзонах у больных раком лёгких г Ханой (вьетнам)"
Демо работы
Описание работы
МИНИСТЕРСТВО НАУКИ И ВЫСШЕГО ОБРАЗОВАНИЯ РОССИЙСКОЙ ФЕДЕРАЦИИФедеральное государственное автономное образовательное учреждение высшего образования
«ТЮМЕНСКИЙ ГОСУДАРСТВЕННЫЙ УНИВЕРСИТЕТ»
ИНСТИТУТ БИОЛОГИИ
Кафедра экологии и генетики
РЕКОМЕНДОВАНО К ЗАЩИТЕ В ГЭК
Заведующий кафедрой д.б.н., профессор
И.В.Пак
2023 г.
ВЫПУСКАЯ КВАЛИФИКАЦИОННАЯ РАБОТА
Специальность
ИЗУЧЕНИЕ ЧАСТОТ МУТАЦИЙ ГЕНА EGFR В 4 ЭКЗОНАХ У БОЛЬНЫХ РАКОМ ЛЁГКИХ Г. ХАНОЙ (ВЬЕТНАМ)
06.05.01 Биоинженерия и биоинформатика Выполнила работу
студентка 5 курса очной формы обучения
Руководитель к.б.н., доцент
Тюмень 2023
РЕФЕРАТ
В группе мужчин с самой низкой частотой аденокарциномы легкого, в возрасте ? 40 лет и ? 71 года этот показатель составляет 4%. У мужчин самая высокая заболеваемость аденокарциномой легкого приходится на группу 61- 70 лет с частотой 30%. В женской группе ? 71 года отмечается самый низкий уровень рака легкого – 1%. У женщин самая высокая заболеваемость аденокарциномой легкого приходится на возрастную группу 51-60 лет с показателем 13%. Мужчины имеют более высокий уровень рака легких, чем женщины, с показателями 70% и 30%, соответственно.
Группа мужчин с самой низкой частотой аденокарциномы легкого в возрасте
? 50 лет имеет показатель 10,1%. У мужчин самая высокая заболеваемость аденокарциномой легкого была в группе 51-60 лет с показателем 21,1%. Женские группы 41-50 лет и ? 71 года имеют самый низкий уровень рака легкого - 3,6%. У женщин самая высокая заболеваемость аденокарциномой легкого приходится на группу ? 40 лет с показателем 11,1%. Мужчины имеют более высокий уровень легочной клеточной карциномы, чем женщины: 70,8% и 29,2%, соответственно.
В разных возрастных группах доля мужчин во Вьетнаме и на Тайване различна. Проявления у пациентов мужского пола во Вьетнаме, как правило, приходится на возраст 61-70 лет. Проявления у пациентов мужского пола на Тайване, как правило, приходится на возраст от 51 до 60 лет. В разных возрастных группах доля женщин во Вьетнаме и на Тайване различна. Симптомы у женщин-пациентов во Вьетнаме, как правило, возникают в возрасте от 51 до 60 лет. Проявления у пациентов мужского пола на Тайване, как правило, возникают в возрасте до 40 лет. Доля пациентов женского и мужского пола во Вьетнаме и на Тайване примерно одинакова. В обеих странах не было существенной разницы в количестве пациентов с процентным соотношением полов. Количество пациентов мужского пола во
Вьетнаме почти такое же, как и на Тайване. Количество женщин-пациентов на Тайване почти равно количеству женщин-пациентов во Вьетнаме.
ОГЛАВЛЕНИЕ
ОГЛАВЛЕНИЕ 4
ВВЕДЕНИЕ 6
ГЛАВА 1. ОБЗОР ЛИТЕРАТУРЫ 7
1.1. РАК ЛЕГКИХ 7
1.1.1. РАСПРОСТРАНЕННОСТЬ РАКА ЛЕГКИХ 7
1.1.2. КЛАССИФИКАЦИЯ РАКА ЛЕГКИХ 9
1.1.3. СТАДИИ РАКА ЛЕГКИХ 11
1.2. АДЕНОКАРЦИНОМА ЛЕГКИХ 14
1.2.1. ХАРАКТЕРИСТИКИ АДЕНОКАРЦИНОМЫ 14
1.2.2. ПАТОЛОГИЧЕСКИЕ ТКАНЕВЫЕ КАЛЫ ПРИ КАРЦИНОМЕ НАДПОЧЕЧНИКОВ 17
1.3. ГЕНЕТИЧЕСКАЯ МОДИФИКАЦИЯ EGFR ПРИ РАКЕ ЛЕГКИХ 19
1.3.1. СТРУКТУРА И ФУНКЦИЯ ГЕНА EGFR 19
1.3.2. МУТАЦИЯ ГЕНА EGFR ПРИ РАКЕ ЛЕГКИХ 22
1.4. ТАРГЕТНОЕ ЛЕЧЕНИЕ РАКА ЛЕГКИХ И РАКА 25
1.4.1. ТАРГЕТНОЕ ЛЕЧЕНИЕ ОНКОЛОГИЧЕСКИХ ЗАБОЛЕВАНИЙ 25
1.4.2. ТАРГЕТНОЕ ЛЕЧЕНИЕ РАКА ЛЕГКИХ 28
1.4.3. МЕТОД АНАЛИЗА ГЕННЫХ МУТАЦИЙ ПРИ РАКЕ ЛЕГКОГО 31
ГЛАВА 2. МЕТОДЫ ИССЛЕДОВАНИЯ 35
2.1. ОБРАЗЕЦ ИССЛЕДОВАНИЯ 35
2.2. ИССЛЕДОВАТЕЛЬСКОЕ ОБОРУДОВАНИЕ 39
2.3. МЕТОДЫ ИССЛЕДОВАНИЯ 40
2.3.1. МЕТОД PCR 40
2.3.2. СПОСОБ ВЫЯВЛЕНИЯ МУТАЦИЙ ГЕНА EGFR 43
2.4. МЕТОД ПЦР ДЛЯ ВЫЯВЛЕНИЯ МУТАЦИЙ ГЕНА EGFR 44
2.5. МЕТОДИКА ОЦЕНКИ ПОРОГА ОБНАРУЖЕНИЯ (ЧУВСТВИТЕЛЬНОСТИ) И
ТЕХНИЧЕСКОЙ СПЕЦИФИКИ. 45
2.6. МЕТОД ОПРЕДЕЛЕНИЯ МУТАЦИЙ ГЕНА EGFR МЕТОДОМ
ЭЛЕКТРОФОРЕЗА 47
ГЛАВА 3. РЕЗУЛЬТАТЫ И ОБСУЖДЕНИЕОшибка! Закладка не определена.
3.1. РЕЗУЛЬТАТЫ АНАЛИЗА ИЗУЧЕННЫХ ДАННЫХ ПАЦИЕНТА,
СОДЕРЖАЩИХ МУТАЦИЮ ГЕНА EGFR НА EXON18 ДО EXON 21 ХАНОЙ,
ВЬЕТНАМ. Ошибка! Закладка не определена.
3.2. РЕЗУЛЬТАТЫ АНАЛИЗА ИЗУЧЕННЫХ ДАННЫХ ПАЦИЕНТА
СОДЕРЖАЩИХ МУТАЦИЮ ГЕНА EGFR НА EXON18 ДО EXON 21 TAIPEI, TAIWAN Ошибка! Закладка не определена.
3.3. ПРОЦЕНТНОЕ СРАВНЕНИЕ МЕЖДУ ВЬЕТНАМСКИМИ И ТАЙВАНЬСКИМИ ПАЦИЕНТАМИ Ошибка! Закладка не определена.
БИБЛИОГРАФИЧЕСКИЙ СПИСОК 51
ПРИЛОЖЕНИЕ 70
ПРИЛОЖЕНИЕ 1 70
ПРИЛОЖЕНИЕ 2 71
ВВЕДЕНИЕ
Сто тридцать девять (139) от пациентов с аденокарциномой легких были предоставлены Центром анатомии заболеваний и молекулярной биологии больницы K в период с 2015 по 2018 год.
Исследование проводилось на 109 пациентах с аденокарциномой легкого, диагностированных и пролеченных в Тайбэйском медицинском университете с января 2016 по январь 2018 года.
Цель - изучить зависимость частоты мутации гена EGFR у больных раком в г. Ханой (Вьетнам) и г. Тайбэй (Тайвань).
Задачи:
1. Выявить преобладающую возрастную группу среди пациентов
2. Оценить частоту заболеваний аденокарциномой легкого среди общего числа больных
3. Выявить зависимость заболеваемости от пола
4. Сравнить заболеваемость между Вьетнамом и Тайванью.
БИБЛИОГРАФИЧЕСКИЙ СПИСОК
1. Alewine C. Advances in anticancer immunotoxin therapy / C. Alewine,
R. Hassan, I. Pastan // Oncologist, 2015, 20, 176-185.
2. Amin K.S. The cellular functions of RASSF1A and its inactivation in prostate cancer / K.S. Amin, P.P. Banerjee // J Carcinog, 2012, 11, 1477- 3163.
3. Amin M.B. Springer International Publishing / M.B. Amin, S. Edge, F. Greene, D.R. Byrd, R.K. Brookland, et al // AJCC Cancer Staging Manual, 2017.
4. Antonicelli A. EGFR-Targeted Therapy for Non-Small Cell Lung Cancer: Focus on EGFR Oncogenic Mutation / A. Antonicelli, S. Cafarotti, A. Indini, A. Galli, A. Russo, et al. // Int J Med Sci, 2013, 10, 320–330.
5. Arya M. Basic principles of realtime quantitative PCR / M. Arya, I.S. Shergill, M. Williamson, L. Gommersall, N. Arya, et al // Expert Rev Mol Diagn 2005, 5, 209219.
6. Bates J.A. Scorpion ARMS primers for SNP real-time PCR detection and quantification of Pyrenophora teres / J.A. Bates, E.J. Taylor // Mol Plant Pathol, 2001, 2, 275-280.
7. Baudino T.A. Targeted Cancer Therapy: The Next Generation of Cancer Treatment / Curr Drug Discov Technol, 2015, 12, 3-20.
8. Bell D.W. Epidermal growth factor receptor mutations and gene amplification in nonsmall-cell lung cancer: molecular analysis of the IDEAL/INTACT gefitinib trials / D.W. Bell, T.J. Lynch, S.M. Haserlat,
P.L. Harris, R.A. Okimoto, et al // J Clin Oncol, 2005, 23, 8081-8092.
9. Bertotti A. The genomic landscape of response to EGFR blockade in colorectal cancer / A. Bertotti, E. Papp, S. Jones, V. Adleff, V. Anagnostou, et al // Nature, 2015, 526, 263–267.
10. Candiloro I.L. Closed-tube PCR methods for locusspecific DNA methylation analysis / I.L. Candiloro, T. Mikeska, A. Dobrovic // Methods Mol Biol, 2011, 791, 55-71.
11. Cappuzzo F. Epidermal Growth Factor Receptor Gene and Protein and Gefitinib Sensitivity in Non–Small-Cell Lung Cancer / F. Cappuzzo,
F.R. Hirsch, G.L. Ceresoli, A. Sidoni, C. Doglioni, et al., // Journal of the National Cancer Institute, 2005, 97, 643–655.
12. Carpenter G. Receptors for epidermal growth factor and other polypeptide mitogens, / G. Carpenter, //Ann Rev Biochem 1987, 56, 881–914.
13. Chan B.A. Targeted therapy for non-small cell lung cancer:
current standards and the promise of the future,/ B.A. Chan, B.G. Hughes, // Transl Lung Cancer Res 2015, 4, 36–54.
14. Chen C. Prognosis value of MGMT promoter methylation for patients with lung cancer: a meta-analysis,/ C. Chen, H. Hua, C. Han, Y. Cheng,
Y. Cheng, et al., // International journal of clinical and experimental pathology, 2015, 8, 1156011564.
15. Chen Y. Significant associations between driver gene mutations and DNA methylation alterations across many cancer types, / Y. Chen, V. Gotea, G. Margolin, L. Elnitski, // PLoS computational biology, 2017, 13, e1005840-e1005840.
16. Chung K.Y. Cetuximab shows activity in colorectal cancer patients with tumors that do not express the epidermal growth factor receptor by immunohistochemistry, / K.Y. Chung, J. Shia, N.E. Kemeny, M. Shah,
G.K. Schwartz, et al., // J Clin Oncol, 2005, 23, 1803-1810.
17. Ciardiello F. EGFR Antagonists in Cancer Treatment, / F. Ciardiello, G. Tortora, S.F. Magrassi, A. Lanzara, // N Engl J Med, 2008, 358, 1160– 1174.
18. Costello J. Methylation matters, / J. Costello, C. Plass, // J Med Genet, 2001, 38, 285-303.
19. Cu?ng P.N. Nghien c?u s? b?c l? cac d?u ?n mi?n d?ch p63, CK5/6, Ttf-1 va Napsin-A trong ch?n doan ung thu bi?u mo ph?i khong t? bao nh?, / Ph?m Nguyen Cu?ng, Le Dinh Roanh, Nguy?n Van Hung, Tr?n Th? Ng?c Phuong, // T?p chi Y du?c h?c, 2016, 173-178.
20. D’Alessandris Q.G. , Prognostic Impact of MGMT Promoter Methylation in Glioblastoma - ASystematic Review, / Q.G. D’Alessandris, N. Montano, L.M. Larocca, G. Maira, R. Palliniand, // J Cancer Sci Ther 2014, 6, 136-141
21. Fraipont F. An apoptosis methylation prognostic signature for early lung cancer in the IFCT-0002 trial, / F. de Fraipont, G. Levallet, C. Creveuil, E. Bergot, M. Beau-Faller, et al. // Clin Cancer Res, 2012, 18, 2976-2986.
22. Dibble C.C. Regulation of mTORC1 by PI3K signaling, / C.C. Dibble,
L.C. Cantley, // Trends Cell Biol, 2015, 25, 545–555.
23. Do H. A critical reassessment of DNA repair gene promoter methylation in non-small cell lung carcinoma, / H. Do, N.C. Wong, C. Murone, T. John, B. Solomon, et al., // Sci Rep, 2014, 26, 4186.
24. Domingo E. (2005) MLH1 (human mutL homolog 1) / E. Domingo, S.J. Schwartz // Atlas Genet Cytogenet Oncol Haematol. pp. 120-122.
25. Donninger H. The RASSF1A tumor suppressor, / H. Donninger, M.D. Vos, G.J. Clark // Journal of Cell Science, 2007, 120, 3163.
26. Dubois F. RASSF1A Suppresses the Invasion and Metastatic Potential of Human Non-Small Cell Lung Cancer Cells by Inhibiting YAP Activation through the GEF-H1/RhoB Pathway, / F. Dubois, M. Keller,
O. Calvayrac, F. Soncin, L. Hoa, et al., // Cancer Res 2016, 76, 1627- 1640.
27. DUONG T.Q.M. Methylation analysis of the Adenomatous polyposis coli (APC) gene promoter in breast cancer patients, / T.Q.M. Duong,
H.T. Trinh, // VNU, Journal of Science, Natural Sciences and Technology 01, 2011.
28. Erasimus H. DNA repair mechanisms and their clinical impact in glioblastoma, / H. Erasimus, M. Gobin, S. Niclou, E. Van Dyck, // Mutat Res Rev Mutat Res, 2016, 769, 19-35.
29. Esteller M. A gene hypermethylation profile of human cancer, / M. Esteller, P.G. Corn, S.B. Baylin, J.G. Herman, // Cancer Research, 2001, 61, 3225-3229.
30. Esteller M. Generating mutations but providing chemosensitivity:
the role of O6-methylguanine DNA methyltransferase in human cancer,
/ M. Esteller, J.G. Herman, // Oncogene, 2004, 23, 1-8.
31. Esteller M. Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors, / M. Esteller, J.M. Silva, G. Dominguez, F. Bonilla, X. Matias-Guiu, et al., // J Natl Cancer Inst, 2000, 92, 564-569.
32. Feinberg A.P. Phenotypic plasticity and the epigenetics of human disease, / A.P. Feinberg, // Nature, 2007, 447, 433-440.
33. Feinberg A.P. Hypomethylation distinguishes genes of some human cancers from their normal counterparts, / A.P. Feinberg, B. Vogelstein,
// Nature, 1983, 301, 89.
34. Feng Q. DNA methylation in tumor and matched normal tissues from non-small cell lung cancer patients, / Q. Feng, S.E. Hawes, J.E. Stern, L. Wiens, H. Lu, et al., // Cancer Epidemiol Biomarkers Prev 2008, 17, 645-654.
35. Forman D. GLOBOCAN 2012 v1.0, Cancer Incidence and Mortality Worldwide. Lyon, / Forman D., F. Bray // France: International Agency for Research on Cancer (2018).
36. Forozan F. Genome screening by comparative genomic hybridization, /
F. Forozan, R. Karhu, J. Kononen, A. Kallioniemi, O.P. Kallioniemi, // Trends Genet 1997, 13, 405-409.
37. Franca L.T. A review of DNA sequencing techniques, / L.T. Franca, E. Carrilho, T.B. Kist, // Q Rev Biophys, 2002, 35, 169-200.
38. Frommer M. A genomic sequencing protocol that yields a positive display of 5methylcytosine residues in individual DNA strands, / M. Frommer, L.E. McDonald, D.S. Millar, C.M. Collis, F. Watt, et al., // Proc Natl Acad Sci U S A, 1992, 89, 1827-1831.
39. Gabor S. Invasion of blood vessels as significant prognostic factor in radically resected T1-3N0M0 nonsmall-cell lung cancer, / S. Gabor, H. Renner, H. Popper, U. Anegg, O. Sankin, et al., // Eur J Cardiothorac Surg, 2004, 25, 439-442.
40. Gao W. Prognostic significance of BRCA1 and RASSF1A promoter hypermethylation in non-small cell lung cancer patients, / W. Gao, Z. Zhou, Y. Liu, D. Liu, Q. Feng, et al., // Int J Clin Exp Pathol, 2016, 9, 8544-8549.
41. Gazdar A.F. Deregulated EGFR signaling during lung cancer progression: mutations, amplicons, and autocrine loops,/ A.F. Gazdar,
J.D. Minna, // Cancer Prev Res, 2008, 1, 156-160.
42. Gerber D.E. Targeted therapies: a new generation of cancer treatments,
/ D.E. Gerber, // Am Fam Physician 2008, 77, 311-319.
43. Grandjean G. Inheritance of an Epigenetic Mark: The CpG DNA Methyltransferase 1 Is Required for De Novo Establishment of a Complex Pattern of Non-CpG Methylation, / V. Grandjean, // 2007, 2.
44. Grawenda A.M. Clinical utility of RASSF1A methylation in human malignancies,/ A.M. Grawenda, E. O'Neill, // Br J Cancer 2015, 113, 372–381.
45. Gupta A. Hypomethylation of the Synuclein ? gene CpG island promoters its aberrant expression in breast carcinoma and ovarian carcinoma, / A. Gupta, A.K. Godwin, L. Vanderveer, A. Liu, // Cancer Research, 2003, 63, 664-673.
46. Le Thu Ha (2017) Danh gia hi?u qu? thu?c erlotinib trong di?u tr? ung thu ph?i bi?u mo tuy?n giai do?n mu?n. Lu?n an ti?n si.
47. Nguy?n Minh Ha, Xac d?nh d?t bi?n gen EGFR ? b?nh nhan ung thu ph?i khong t? bao nh?, Y H?c TP H? Chi Minh, 2013, 17, 34-37.
48. Nguy?n Minh Ha (2014) Xac d?nh d?t bi?n gen EGFR va gen KRAS quy?t d?nh tinh dap ?ng thu?c trong di?u tr? b?nh ung thu ph?i khong t? bao nh?. Lu?n an ti?n si.
49. Haley J. The human EGF receptor gene: structure of the 110 kb locus and identification of sequences regulating its transcription, / J. Haley, N. Whittle, P. Bennett, D. Kinchington, A. Ullrich, et al., // Oncogene Res 1987, 1, 375-396.
50. Hanner M. Purification, molecular cloning, and expression of the mammalian sigma1binding site, / M. Hanner, F.F. Moebius, A. Flandorfer, H.G. Knaus, J. Striessnig, et al., // Proceedings of the National Academy of Sciences, 1996, 93, 8072.
51. Harandi A. Clinical efficacy and toxicit of anti-EGFR therapy in common cancers, / A. Harandi, A.S. Zaidi, A.M. Stocker, D.A. Laber, // J Oncol 2009, 1-15.
52. Harrison A. DNA methylation: a timeline of methods and applications,
/ A. Harrison, A. Parle-McDermott, // Front Genet, 2011, 2.
53. Hata K. Dnmt3L cooperates with the Dnmt3 family of de novo DNA methyltransferases to establish maternal imprints in mice, / K. Hata, M. Okano, H. Lei, E. Li, // Development, 2002, 129, 1983-1993.
54. Hernandez H.G. Optimizing methodologies for PCR-based DNA methylation analysis, / H.G. Hernandez, M.Y. Tse, S.C. Pang, H. Arboleda, D.A. Forero, // Biotechniques, 2013, 55, 181-197.
55. Hirsch F.R. Increased EGFR gene copy number detected by fluorescent in situ hybridization predicts outcome in non-small-cell lung cancer patients treated with cetuximab and chemotherapy, / F.R. Hirsch, R.S. Herbst, C. Olsen, K. Chansky, J. Crowley, et al., // J Clin Oncol, 2008, 26, 3351-3357.
56. Hoque M.O. Genetic and epigenetic analysis of erbB signaling pathway genes in lung cancer, / M.O. Hoque, M. Brait, E. Rosenbaum, M.L. Poeta, P. Pal, et al., //J Thorac Oncol, 2010, 5, 1887–1893.
57. Horn L. Harrison's Principles of Internal Medicine: McGraw-Hill / L. Horn, C.M. Lovly, D.H. Johnson // (2015)
58. Hsieh P. DNA mismatch repair: Molecular mechanism, cancer, and ageing, / P. Hsieh, K. Yamane, // Mech Ageing Dev 2008, 129, 391– 407.
59. Izumchenko E. Targeted sequencing reveals clonal genetic changes in the progression of early lung neoplasms and paired circulating DNA, /
E. Izumchenko, X. Chang, M. Brait, E. Fertig, L.T. Kagohara, et al., // Nat Commun, 2015, 6.
60. Jemal A. Global cancer statistics, / A. Jemal, F. Bray, M.M. Center, J. Ferlay, E. Ward, et al., // CA Cancer J Clin, 2011, 61, 69-90.
61. Jones P.A. The fundamental role of epigenetic events in cancer, / P.A. Jones, S.B. Baylin, // Nat Rev Genet, 2002, 3, 415-428.
62. Jones P.A. Targeting the cancer epigenome for therapy, / P.A. Jones, J.J. Issa, S. Baylin, //Nature Reviews Genetics, 2016, 17, 630–641.
63. Jothikumar P. Design of FRET-TaqMan probes for multiplex real-time PCR using an internal positive control, / P. Jothikumar, V. Hill, J. Narayanan, // Biotechniques, 2009, 46, 519-524.
64. Kakavas V.K. PCR SSCP:A method for the molecular analysis of genetic diseases, / V.K. Kakavas, P. Plageras, T.A. Vlachos, A. Papaioannou, V.A. Noulas, // Mol Biotechnol, 2008, 38, 155-163.
65. Kenfield S.A. Comparison of aspects of smoking among the four histological types of lung cancer,/ S.A. Kenfield, E.K. Wei, M.J. Stampfer, B.A. Rosner, G.A. Colditz, // Tob Control, 2008, 17, 198-204.
66. Kennedy R.D. The role of BRCA1 in the cellular response to chemotherapy, / R.D. Kennedy, J.E. Quinn, P.B. Mullan, P.G. Johnston,
D.P. Harkin, // J Natl Cancer Inst, 2004, 96, 1659-1668.
67. Mai Tr?ng Khoa, Tr?n Dinh Ha, Ph?m C?m Phuong, Nguy?n Ti?n Lung, Nguy?n Tu?n Anh, Nguy?n Thu?n L?i, Nguy?n Van Kinh, Nguy?n Qu?c Tu?n, Nguy?n Huy Binh, Ngo Th? Thu Hi?n, Xac d?nh d?t bi?n gen EGFR tren b?nh nhan ung thu ph?i khong t? bao nh? t?i b?nh vi?n B?ch Mai, T?p chi ung thu h?c Vi?t Nam, 2016, 2, 235-242.
68. Kim E.S. Gefitinib versus docetaxel in previously treated non-small-cell lung cancer (INTEREST): a randomised phase III trial, / E.S. Kim, V. Hirsh, T. Mok, M.A. Socinski, R. Gervais, et al., // Lancet, 2008, 372, 1809-1818.
69. Kim Y.T. Prognostic implication of aberrant promoter hypermethylation of CpG islands in adenocarcinoma of the lung,/ Y.T. Kim, S.J. Park, S.H. Lee, H.J. Kang, S. Hahn, et al., // The Journal of Thoracic and Cardiovascular Surgery, 2005, 130, 1371-1378.
70. Kris M.G. Efficacy of gefitinib, an inhibitor of the epidermal growth factor receptor tyrosine kinase, in symptomatic patients with non-small cell lung cancer: a randomized trial, / M.G. Kris, R.B. Natale, R.S. Herbst, T.J. Lynch, D. Prager, et al., // Jama, 2003, 290, 2149-2158.
71. Kristensen L.S. Epigenetics and cancer treatment, / L.S. Kristensen,
H.M. Nielsen, L.L. Hansen, // Eur J Pharmacol, 2009, 625, 131-142.
72. Kumar V. Robbins Basic Pathology: Elsevier Saunders/ V. Kumar, A.K. Abbas, J.C. Aster // 2013.
73. Lee M.N. Epigenetic inactivation of the chromosomal stability control genes BRCA1, BRCA2, and XRCC5 in non-small cell lung cancer, /
M.N. Lee, R.C. Tseng, H.S. Hsu, J.Y. Chen, C. Tzao, et al., // Clin Cancer Res, 2007, 13, 832-838.
74. Lee S.M. Quantitative promoter hypermethylation analysis of RASSF1A in lung cancer: comparison with methylation-specific PCR technique and clinical significance,/ S.M. Lee, W.K. Lee, D.S. Kim, J.Y. Park, // Mol Med Rep, 2012, 5, 239-244.
75. Leone G. DNA methylation and demethylating drugs in myelodysplastic syndromes and secondary leukemias,/ G. Leone, L. Teofili, M.T. Voso,
M. Lubbert, // Haematologica, 2002, 87, 1324-1341.
76. Li D. Effect of BRCA1 on epidermal growth factor receptor in ovarian cancer, / D. Li, F. Bi, J. Cao, C. Cao, C. Li, et al., // Journal of experimental & clinical cancer research : CR, 2013, 32, 102-102.
77. Li J. Relationship of EGFR DNA methylation with the severity of non- small cell lung cancer, / J. Li, X.F. Jia, J. Liu, J.J. Liu, H.B. Zhao, // Genet Mol Res, 2015, 14, 11915-11923.
78. Li X. Correlation of MLH1 and MGMT methylation levels between peripheral blood leukocytes and colorectal tissue DNA samples in colorectal cancer patients, / X. Li, Y. Wang, Z. Zhang, X. Yao, J. Ge, et al., // Oncol Lett, 2013, 6, 1370-1376.
79. Li X. Blockade of DNA methylation enhances the therapeutic effect of gefitinib in non-small cell lung cancer cells, / X. Li, J. Wu, H. Cao, R. Ma, J. Wu, et al., // Oncology Reports, 2013, 29, 1975-1982.
80. Liang Z. Relationship between EGFR expression, copy number and mutation in lung adenocarcinomas, / Z. Liang, J. Zhang, X. Zeng, J. Gao, S. Wu, et al., // BMC Cancer, 2010, 10, 1471-2407.
81. Vuong Di?u Linh, Nguy?n Phi Hung, T? Van T?, Nguy?n Thanh Hoa, Ngo Th? Ha, Vo Th? Thuong Lan, Nghien c?u hi?n tu?ng methyl hoa tren gen BRCA1 ? b?nh nhan ung thu vu va ung thu bu?ng tr?ng t?i b?nh vi?n K, T?p chi ung thu h?c Vi?t Nam, 2011, 3, 476-481.
82. Liu L. Frequent hypermethylation of the RASSF1A gene in prostate cancer, / L. Liu, J.H. Yoon, R. Dammann, G.P. Pfeifer, // Oncogene, 2002, 21, 6835-6840.
83. Liu Y. Aberrant promoter methylation of p16 and MGMT genes in lung tumors from smoking and never-smoking lung cancer patients, / Y. Liu,
Q. Lan, J.M. SiEGFRied, J.D. Luketich, P. Keohavong, // Neoplasia, 2006, 8, 46-51.
84. Lu C. Chapter 78: Cancer of the Lung: Holland-Frei Cancer Medicine, People's Medical Publishing House/ C. Lu, A. Onn, A.A. Vaporciyan,
J.Y. Chang, B.S. Glisson, et al.// (2010).
85. Lynch T.J. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib, /
T.J. Lynch, D.W. Bell, R. Sordella, S. Gurubhagavatula, R.A. Okimoto, et al., // N Engl J Med, 2004, 350, 2129-2139.
86. Mahdieh N. An overview of mutation detection methods in genetic disorders, / N. Mahdieh, B. Rabbani, // Iran J Pediatr, 2013, 23, 375-388.
87. Malpeli G. Methylation Dynamics of RASSF1A and Its Impact on Cancer, / G. Malpeli, G. Innamorati, I. Decimo, M. Bencivenga, A. Nwabo Kamdje, et al., // Cancers, 2019, 11, 959.
88. Marchetti A. 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, / A. Marchetti, C. Martella, L. Felicioni, F. Barassi, S. Salvatore, et al., // J Clin Oncol, 2005, 23, 857-865.
89. Marsit C.J. Inactivation of the Fanconi anemia/BRCA pathway in lung and oral cancers: implications for treatment and survival, / C.J. Marsit,
M. Liu, H.H. Nelson, M. Posner, M. Suzuki, et al., // Oncogene, 2004, 23, 1000-1004.
90. Martin S.A. Therapeutic targeting of the DNA mismatch repair pathway,
/ S.A. Martin, C.J. Lord, A. Ashworth, // Clin Cancer Res, 2010, 16, 5107-5113.
91. Meiers I. Glutathione S-transferase pi (GSTP1) hypermethylation in prostate cancer: review 2007, / I. Meiers, J.H. Shanks, D.G. Bostwick, // Pathology, 2007, 39, 299304.
92. Midha A. EGFR mutation incidence in non-smallcell lung cancer of adenocarcinoma histology: a systematic review and global map by ethnicity (mutMapII), / A. Midha, S. Dearden, R. McCormack, // Am J Cancer Res, 2015, 5, 2892–2911.
93. Miki Y. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1, / Y. Miki, J. Swensen, D. Shattuck-Eidens,
P.A. Futreal, K. Harshman, et al., // Science, 1994, 266, 66.
94. Modjtahedi H. Epidermal growth factor receptor inhibitors in cancer treatment: Advances, challenges and opportunities, / H. Modjtahedi, S. Essapen, // Anticancer Drugs 2009, 20, 851–855.
95. Montero M. Epigenetic inactivation of EGFR by CpG island hypermethylation in cancer, / A.J. Montero, C.M. Diaz-Montero, L. Mao, E.M. Youssef, M. Estecio, et al., // Cancer Biol Ther, 2006, 5, 1494-1501.
96. D.K. Morrison, MAP Kinase Pathways. Cold Spring Harb,/ D.K. Morrison, // Perspect Biol, 2012, 4, a011254.
97. Regulation of BRCA1 expression and its relationship to sporadic breast cancer,/ C.R. Mueller, C.D. Roskelley, // Breast Cancer Res, 2003, 5, 45-52.
98. Mullis K.B. Specific synthesis of DNA in vitro via a polymerasecatalyzed chain reaction,/ K.B. Mullis, F.A. Faloona, // Methods Enzymol, 1987, 155, 335-350.
99. Nakayama M. Hypermethylation of the human glutathione S- transferase-pi gene (GSTP1) CpG island is present in a subset of proliferative inflammatory atrophy lesions but not in normal or hyperplastic epithelium of the prostate: a detailed study using laser- capture microdissection, / M. Nakayama, C.J. Bennett, J.L. Hicks, J.I. Epstein, E.A. Platz, et al., // Am J Pathol, 2003, 163, 923-933.
100. Nay S.L. Chapter 5: Direct Repair in Mammalian Cells, IntechOpen Limitted / S.L. Nay, T.R. O'coner/ (2013).
101. Nindrea R.D. Association of BRCA1 Promoter Methylation with Breast Cancer in Asia: A Meta- Analysis, / R.D. Nindrea, W.A. Harahap, T. Aryandono, L. Lazuardi, // Asian Pac J Cancer Prev, 2018, 19, 885–889.
102. Noone A.M. SEER Cancer Statistics Review (CSR) 1975-2015, / A.M. Noone, N. Howlader, M. Krapcho, D. Miller, A. Brest, et al., // National Cancer Institute, 2017.
103. Ohsaki Y. Epidermal growth factor receptor expression correlates with poor prognosis in nonsmall cell lung cancer patients with p53 overexpression, / Y. Ohsaki, S. Tanno, Y. Fujita, E. Toyoshima, S. Fujiuchi, et al., // Oncol Rep, 2000, 7, 603-607.
CDKN2 gene silencing in lung cancer by DNA hypermethylation and kinetics of p16INK4 protein induction by 5-aza 2'deoxycytidine, / G.A. Otterson, S.N. Khleif, W. Chen, A.B. Coxon, F.J. Kaye, // Oncogene, 1995, 11, 1211-1216.
104. Pan-Chyr. Molecular epidemiological prospective study of EGFR mutations from Asian patients with advanced lung adenocarcinoma, / Pan-Chyr, S. Yuankal, J. Sankar, C. M., T.K. Mai, // J Cin Oncol, 2012, 846-858.
105. Pan Z.Y. Study of the methylation patterns of the EGFR gene promoter in non-small cell lung cancer,/ Z.Y. Pan, Z.S. Jiang, H.Q. Ouyang, // Genetics and Molecular Research, 2015, 14, 9813-9820.
106. Pao W. Epidermal growth factor receptor mutations, smallmolecule kinase inhibitors, and non-small-cell lung cancer: current knowledge and future directions, / W. Pao, V.A. Miller, // J Clin Oncol, 2005, 23, 2556- 2568.
107. Pegg A.E. Human variants of O6-alkylguanineDNA alkyltransferase, /
A.E. Pegg, Q. Fang, N.A. Loktionova, // DNA Repair (Amst), 2007, 6, 1071–1078.
108. Pereira M.A. Modulation by budesonide of DNA methylation and mRNA expression in mouse lung tumors, / M.A. Pereira, L. Tao, Y. Liu, L. Li, V.E. Steele, et al., // Int J Cancer, 2007, 120, 1150-1153.
109. Pfeifer G.P. Tobacco smoke carcinogens, DNA damage and p53 mutations in smokingassociated cancers, / G.P. Pfeifer, M.F. Denissenko, M. Olivier, N. Tretyakova, S.S. Hecht, et al., // Oncogene, 2002, 21, 7435-7451.
110. Probst A.V. Epigenetic inheritance during the cell cycle, / A.V. Probst,
E. Dunleavy, G. Almouzni, // Nat Rev Mol Cell Biol, 2009, 10, 192-206.
111. Raz D.J. ,Bronchioloalveolar carcinoma: a review, / D.J. Raz, B. He, R. Rosell, D.M. Jablons, // Clinical Lung Cancer, 2006, 7, 313–322.
112. Reguart N. BRCA1: A New Genomic Marker for Non–Small-Cell Lung Cancer, / N. Reguart, A.F. Cardona, E. Carrasco, P. Gomez, M. Taron, et al., // Clinical Lung Cancer, 2008, 9, 331-339.
113. Reiter J.L. Comparative genomic sequence analysis and isolation of human and mouse alternative EGFR transcripts encoding truncated receptor isoforms,/ J.L. Reiter, D.W. Threadgill, G.D. Eley, K.E. Strunk,
A.J. Danielsen, et al., // Genomics, 2001, 71, 1-20.
114. Rhee I. DNMT1 and DNMT3b cooperate to silence genes in human cancer cells, / I. Rhee, K.E. Bachman, B.H. Park, K.W. Jair, R.W. Yen, et al., // Nature, 2002, 416, 552-556.
115. Rice J.C. Methylation of the BRCA1 promoter is associated with decreased BRCA1 mRNA levels in clinical breast cancer specimens, /
J.C. Rice, H. Ozcelik, P. Maxeiner, I. Andrulis, B.W. Futscher, // Carcinogenesis, 2000, 21, 1761-1765.
116. Robertson K.D. DNA methylation, methyltransferases, and cancer,/
K.D. Robertson, // Oncogene, 2001, 20, 3139-3155.
117. Rosti G. Small cell lung cancer, / G. Rosti, G. Bevilacqua, P. Bidoli, L. Portalone, A. Santo, et al., // Ann Oncol, 2006, 17.
118. Salazar F. First-line therapy and methylation status of CHFR in serum influence outcome to chemotherapy versus EGFR tyrosine kinase inhibitors as secondline therapy in stage IV non-small-cell lung cancer patients,/ F. Salazar, M.A. Molina, M. Sanchez-Ronco, T. Moran, J.L. Ramirez, et al., // Lung Cancer, 2011, 72, 84-91.
119. Scartozzi M. Epidermal growth factor receptor (EGFR) gene promoter methylation and cetuximab treatment in colorectal cancer patients, / M. Scartozzi, I. Bearzi, A. Mandolesi, R. Giampieri, L. Faloppi, et al., // British Journal of Cancer, 2011, 104, 1786 – 1790.
120. Schuster S.C. Next-generation sequencing transforms today's biology,/
S.C. Schuster, // Nat Methods 2008, 5, 16-18.
121. Selvaggi G. Epidermal growth factor receptor overexpression correlates with a poor prognosis in completely resected non-small-cell lung cancer,
/ G. Selvaggi, S. Novello, V. Torri, E. Leonardo, P. De Giuli, et al., // Ann Oncol, 2004, 15, 28-32.
122. Seng T.J. DLEC1 and MLH1 promoter methylation are associated with poor prognosis in nonsmall cell lung carcinoma, / T.J. Seng, N. Currey,
W.A. Cooper, C.S. Lee, C. Chan, et al., //Br J Cancer, 2008, 99, 375- 382.
123. Shao C. Integrated, genomewide screening for hypomethylated oncogenes in salivary gland adenoid cystic carcinoma, / C. Shao, W. Sun, M. Tan, C.A. Glazer, S. Bhan, et al., // Clinical Cancer Research, 2011, 17, 4320-4330.
124. Sharma B. BRCA1 mutation spectrum, functions, and therapeutic strategies: The story so far, / B. Sharma, R. Preet Kaur, S. Raut, A. Munshi, // Curr Probl Cancer, 2018, 42, 189-207.
125. Sharma S. Role of MGMT in tumor development, progression, diagnosis, treatment and prognosis, / S. Sharma, F. Salehi, B.W. Scheithauer, F. Rotondo, L.V. Syro, et al., // Anticancer Res, 2009, 29, 3759-3768.
126. Sharma S.V. Epidermal growth factor receptor mutations in lung cancer,
/ S.V. Sharma, D.W. Bell, J. Settleman, D.A. Haber, // Nat Rev Cancer, 2007, 7, 169-181.
127. Sharp A.J. DNA methylation profiles of human active and inactive X chromosomes, / A.J. Sharp, E. Stathaki, E. Migliavacca, M. Brahmachary, S.B. Montgomery, et al., // Genome Res, 2011, 21, 1592- 1600.
128. Shen L. Methods of DNA methylation analysis, / L. Shen, R.A. Waterland, // Curr Opin Clin Nutr Metab Care, 2007, 10, 576-581.
129. Shi Y. Molecular Epidemiology of EGFR Mutations in Asian Patients with Advanced Non-Small-Cell Lung Cancer of Adenocarcinoma
Histology – Mainland China Subset Analysis of the PIONEER study, /
Y. Shi, J. Li, S. Zhang, M. Wang, S. Yang, et al., // PLoS One, 2015, 10, e0143515.
130. Shukuya T. Efficacy of gefitinib for non-adenocarcinoma non-small-cell lung cancer patients harboring epidermal growth factor receptor mutations: A pooled analysis of published reports, / T. Shukuya, T. Takahashi, R. Kaira, A. Ono, Y. Nakamura, et al., // Cancer Sci, 2011, 102, 1032–1037.
131. Song M.S. The tumour suppressor RASSF1A regulates mitosis by inhibiting the APC-Cdc20 complex, / M.S. Song, S.J. Song, N.G. Ayad,
J.S. Chang, J.H. Lee, et al., // Nat Cell Biol 2004, 6, 129-137.
132. Starita L.M. The multiple nuclear functions of BRCA1:
transcription, ubiquitination and DNA repair, / L.M. Starita, J.D. Parvin,
// Curr Opin Cell Biol, 2003, 15, 345-350.
133. Strachan T. Human Molecular Genetics; / T. Strachan, A. and Read (2004) //edition, editor: Garland Science.
134. Subramanian J. Lung cancer in never smokers: a review, / J. Subramanian, R. Govindan, // American Society of Clinical Oncology 2007, 25, 561–570.
135. Takeshima H. Accumulation of genetic and epigenetic alterations in normal cells and cancer risk, /H. Takeshima, T. Ushijima, // Precision Oncology, 2019, 3, 1-7.
136. Tang M. Wnt signaling promoter hypermethylation distinguishes lung primary adenocarcinomas from colorectal metastasis to the lung, / M. Tang, J. Torres-Lanzas, F. Lopez-Rios, M. Esteller, M. Sanchez- Cespedes, // International Journal of Cancer, 2006, 119, 2603-2606.
137. Tsao A.S. Scientific Advances in Lung Cancer , // A.S. Tsao, G.V. Scagliotti, P.A. Bunn Jr., D.P. Carbone, G.W. Warren, et al., //Journal of Thoracic Oncology, 2015, 11, 613-638.
138. Tsao M.S. Erlotinib in lung cancer - molecular and clinical predictors of outcome, / M.S. Tsao, A. Sakurada, J.C. Cutz, C.Q. Zhu, S. Kamel-Reid, et al., // N Engl J Med, 2005, 353, 133-144.
139. Uhlen M. Towards a knowledge-based Human Protein Atlas. / M. Uhlen, P. Oksvold, L. Fagerberg, E. Lundberg, K. Jonasson, et al. // Nature Biotechnology (2010). pp. 1248-1250.
140. van der Velden V.H. Detection of minimal residual disease in hematologic malignancies by real-time quantitative PCR: principles, approaches, and laboratory aspects, / V.H. van der Velden, A. Hochhaus,
G. Cazzaniga, T. Szczepanski, J. Gabert, et al., // Leukemia, 2003, 17, 1013-1034.
141. VO L.T. Methylation profile of BRCA1, RASSF1A and ER in Vietnamese women with ovarian cancer, / L.T. Vo, T.B. Thuan, D.M. Thu, N.Q. Uyen, N.T. Ha, et al., // Asian Pac J Cancer Prev, 2013, 14, 7713-7718.
142. VO T.T. Promoter methylation profile of GSTP1 and RASSF1A in prostate cancerand benign hyperplasia in Vietnamese men, / T.T. Vo,
B.T. Ta, V.T. Ta, D.L. Vuong, Q.U. Nguyen, // Turk J Med Sci, 2016, 46, 228-235.
143. VO T.T.L. Methylation profiles of MIR34 gene family in Vietnamese patients suffering from breast and lung cancers, / T.T.L. Vo, S. Ho, T. Vu, T. Nguyen, P. Nguyen, et al., // Molecular Medicine Reports, 2018, 18.
144. Vu H.A. Spectrum of EGFR gene mutations in Vietnamese patients with non-small cell lung cancer, / H.A. Vu, P.T. Xinh, H.T. Ha, N.T. Hanh,
N.D. Bach, et al., // Asia Pac J Clin Oncol, 2016, 12, 86-90.
145. Wang J. The prognostic value of RASSF1A promoter hypermethylation in non-small cell lung carcinoma: a systematic review and meta-analysis,
/ J. Wang, B. Wang, X. Chen, J. Bi, // Carcinogenesis, 2011, 32, 411- 416.
146. Wang Y. Multiple gene methylation of nonsmall cell lung cancers evaluated with 3 dimensional microarray, / Y. Wang, D. Zhang, W. Zheng, J. Luo, Y. Bai, et al., // Cancer, 2008, 112, 1325-1336.
147. Wang Y.C. Inactivation of hMLH1 and hMSH2 by promoter methylation in primary non-small cell lung tumors and matched sputum samples, / Y.C. Wang, Y.P. Lu, R.C. Tseng, R.K. Lin, J.W. Chang, et al., // J Clin Invest, 2003, 111, 887-895.
148. Weinstein I.B. Mechanisms of disease: Oncogene addiction--a rationale for molecular targeting in cancer therapy,/ I.B. Weinstein, A.K. Joe, // Nat Clin Pract Oncol, 2006, 3, 448-457.
149. Weng X. Hypermethylated Epidermal growth factor receptor (EGFR) promoter is associated with gastric cancer, / X. Weng, H. Zhang, J. Ye,
M. Kan, F. Liu, et al., // Sci Rep, 2015, 5.
150. Wu J.Y. Association of O6methylguanine-DNA methyltransferase (MGMT) promoter methylation with p53 mutation occurrence in non- small cell lung cancer with different histology, gender, and smoking status, / J.Y. Wu, J. Wang, J.C. Lai, Y.W. Cheng, K.T. Yeh, et al., // Ann Surg Oncol 2008, 15, 3272-3277.
151. Xiong Z. COBRA: a sensitive and quantitative DNA methylation assay,
/ Z. Xiong, P.W. Laird, // Nucleic Acids Res, 1997, 25, 2532-2534.
152. Yanag N. awa Inverse correlation between EGFR mutation and FHIT, RASSF1A and RUNX3 methylation in lung adenocarcinoma: relation with smoking status, / N. Yanagawa, G. Tamura, H. Oizumi, M. Endoh,
M. Sadahiro, et al., // Anticancer Res, 2011, 31, 1211-1214.
153. Yokoyama T. Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case
report and literature review, / T. Yokoyama, K. Takehara, N. Sugimoto,
K. Kaneko, E. Fujimoto, et al., // BMC Cancer, 2018, 18, 018-4489.
154. Zhang L. Association of BRCA1 promoter methylation with sporadic breast cancers: Evidence from 40 studies, / L. Zhang, X. Long, // Scientific reports, 2015, 5, 1786917869.
155. Zhang Y. DNA methylation analysis on a droplet-in-oil PCR array, / Y. Zhang, V. Bailey, C.M. Puleo, H. Easwaran, E. Griffiths, et al., // Lab Chip, 2009, 9, 1059-1064.
156. Zhang Y. Methylation of multiple genes as a candidate biomarker in non-small cell lung cancer, / Y. Zhang, R. Wang, H. Song, G. Huang, J. Yi, et al., // Cancer Lett, 2011, 303, 21-28.
157. Zhang Z. EGFRmutated lung cancer: A paradigm of molecular oncology, / Z. Zhang, A.L. Stiegler, T.J. Boggon, S. Kobayashi, B. Halmos, // Oncotarget, 2010, 1, 497–514.
158. Boddy. Statistical methods in practice: for scientists and technologists. / Boddy, Richard; Smith, Gordon (2009). // Chichester, U.K.: Wiley. tr. 95–96. ISBN 978-0-470-74664-6.
Похожие работы
Другие работы автора
НЕ НАШЛИ, ЧТО ИСКАЛИ? МОЖЕМ ПОМОЧЬ.
СТАТЬ ЗАКАЗЧИКОМ