Биобанки в онкологии: мировой опыт и российская действительность
Биобанки в онкологии: мировой опыт и российская действительность
Каприн А.Д., Иванов С.А., Петров В.А. и др. Биобанки в онкологии: мировой опыт и российская действительность. Современная Онкология. 2020; 22 (2): 82–88.
DOI: 10.26442/18151434.2020.2.200103
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Kaprin A.D., Ivanov S.A., Petrov V.A. et al. Biobanks in oncology: global experience and Russian reality. Journal of Modern Oncology. 2020; 22 (2): 82–88. DOI: 10.26442/18151434.2020.2.200103
Биобанки в онкологии: мировой опыт и российская действительность
Каприн А.Д., Иванов С.А., Петров В.А. и др. Биобанки в онкологии: мировой опыт и российская действительность. Современная Онкология. 2020; 22 (2): 82–88.
DOI: 10.26442/18151434.2020.2.200103
________________________________________________
Kaprin A.D., Ivanov S.A., Petrov V.A. et al. Biobanks in oncology: global experience and Russian reality. Journal of Modern Oncology. 2020; 22 (2): 82–88. DOI: 10.26442/18151434.2020.2.200103
Одним из неотъемлемых компонентов современных масштабных исследовательских проектов в области медицины являются биобанки. Основная задача данной инфраструктуры – это профессиональный сбор биологических образцов, которые могут быть изучены в отношении широкого спектра молекулярно-биологических параметров и не потеряют своей информативности в течение длительного срока хранения. Информативными данные образцы делает не только правильно проведенная преаналитическая подготовка на этапе забора проб и их размещения в хранилища, но подробное информационное сопровождение (так называемое аннотированние образцов). Аннотация образца – это максимально полно собранные персональные, клинические и лабораторные данные о пациенте. Важным моментом инфраструктуры биобанка является соблюдение нормативно-правовых актов и этических норм, в том числе – процедуры подписания информированного согласия пациентом о добровольной дотации биологических образцов и использовании персональных данных. Все это обеспечивает осуществление основной цели создания биобанков – широкую и бесперебойную доступность коллекций биологического материала для исследователей и разработчиков и соответствие конкретным научным задачам. Данный обзор посвящен проблематике биобанкирования, а также описанию и анализу существующей на данный момент инфраструктуры биобанков онкологической направленности как на мировом уровне, так и в Российской Федерации. Ключевые слова: биобанки, инфраструктура, биорепозитарии, биологический материал, исследовательский проект, образцы замороженной ткани, парафиновые блоки, биобанкирование.
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One of the integral components of modern large-scale research projects in the field of medicine are biobanks. The main objective of this infrastructure is the professional collection of biological samples that can be studied with respect to a wide range of molecular biological parameters and will not lose their information value over a long storage period. These samples are made informative not only by correctly conducted preanalytical preparation at the stage of taking samples and placing them in storage, but also by detailed information support (the so-called annotated samples). The sample annotation is the fully collected personal, clinical and laboratory data about a patient. An important point of the biobank infrastructure is compliance with regulatory legal acts and ethical standards, including the procedure for signing an informed consent by a patient about voluntary donation of biological samples and the use of personal data. All this ensures the implementation of the main objective of creating biobanks – the wide and uninterrupted availability of collections of biological material for researchers and developers and compliance with specific scientific tasks. This review is devoted to biobanking issues, as well as to the description and analysis of the currently existing oncological biobank infrastructure, both globally and within the Russian Federation. Key words: biobanks, infrastructure, biorepositories, biological material, research project, frozen tissue samples, paraffin blocks, biobanking.
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10. Asslaber M, Zatloukal K. Biobanks: transnational, European and global networks. Brief Funct Genom Proteomics 2007;6 (3): 193–201. DOI: 10.1093/bfgp/elm023.
11. Swede H, Stone CL, Norwood AR. National population-based biobanks for genetic research. Genet Med 2007; 9 (3): 141–9. DOI: 10.1097/gim.0b013e3180330039
12. Mohamadkhani A, Poustchi H. Repository of Human Blood Derivative Biospecimens in Biobank: Technical Implications. Middle East J Dig Dis 2015; 7 (2): 61–8.
13. Andersson K, Bray F, Arbyn M et al. The interface of population-based cancer registries and biobanks in etiological and clinical research–current and future perspectives. Acta Oncol 2010; 49 (8): 1227–34. DOI: 10.3109/0284186X.2010.496792
14. Elliott P, Peakman TC. The UK Biobank sample handlingand storage protocol for the collection, processing and archivingof human blood and urine. Int J Epidemiol 2008; 37 (2): 234–44. DOI: 10.1093/ije/dym276
15. Paskal W, Paskal АM, Dębski Т et al. Aspects of Modern Biobank Activity – Comprehensive Review. Pathol Oncol Res 2018; 24: 771–85.
16. Kofanova OA, Mommaerts K, Betsou F. Tube Polypropylene: A Neglected Critical Parameter for Protein Adsorption During Biospecimen Storage. Biopreserv Biobank 2015; 13 (4): 296–8. DOI: 10.1089/bio.2014.0082
17. ISO 20387:2018. https://www.iso.org/standard/67888.html
18. Guerin JS, Murray DW, McGrath MM et al. Molecular medicine ireland guidelines for standardized biobanking. Biopreserv Biobank 2010; 8 (1): 3–63. DOI: 10.1089/bio.2010.8101
19. Leitsalu L, Haller T, Esko T et al. Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu. Int J Epidemiol 2015; 44 (4): 1137–47. DOI: 10.1093/ije/dyt268
20. Zawati M, Borry P, Howard H et al. Closure of populationbiobanks and direct-to-consumer genetic testing companies. Hum Genet 2011; 130 (3): 425–32. DOI: 10.1007/s00439-011-1019-4
21. Awadalla P, Boileau C, Payette Y et al. Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics. Int J Epidemiol 2013; 42 (5): 1285–99. DOI: 10.1093/ije/dys160
22. Bonnelykke K, Sleiman P, Nielsen K et al. Agenome-wideas sociation study identifies CDHR3 asasus ceptibility locus for early childhoodasthm a with sever exacerbations. Nat Genet 2014; 46 (1): 51–5.
23. Haukkala A, Kujala E, Alha P et al. The return of unexpected research results in a biobankstudy and referral to health care for heritable long QT syndrome. Public Health Genomics 2013; 16 (5): 241–50. DOI: 10.1159/000354105
24. Wood AR, Esko T, Yang J et al. Defining the role of common variation in the genomicand biological architecture of adult human height. Nat Genet 2014; 46 (11): 1173–86. DOI: 10.1038/ng.3097
25. Reza M, Cox D, Phillips L et al. MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscul Disord 2017; 27 (11): 1054–64. DOI: 10.1016/j.nmd.2017.07.001
26. De Souza YG, Greenspan JS Biobanking past, present and future: responsibilitie sand benefits. AIDS (London) 2013; 27 (3): 303–12. DOI: 10.1097/QAD.0b013e32835c1244
27. Check Hayden E. Proposed Ebola biobank would strengthen African science. Nature 2015; 524 (7564): 146–7. DOI: 10.1038/524146a
28. Riegman PH, Morente MM, Betsou F et al. Biobanking for better healthcare. Mol Oncol 2008; 2 (3): 213–22. DOI: 10.1016/j.molonc.2008.07.004
29. Goebell PJ, Morente MM. New concepts of biobanks – strategic chance for uro-oncology. Urol Oncol 2010; 28 (4): 449–57. DOI: 10.1016/j.molonc.2008.07.004
30. Ose J, Fortner RT, Schock H et al. Bueno-de-Mesquita HBetal Insulin-like growth factor-I and risk of epithelial invasive ovarian cancer by tumour characteristics: results from the EPIC cohort. Br J Cancer 2015; 112 (1): 162–6. DOI: 10.1038/bjc.2014.566
31. McKenzie F, Ferrari P, Freisling H et al. Healthy life style and risk of breast cancer among postmenopausal women in the European Prospective Investigation into Cancerand Nutrition cohort study. Int J Cancer 2015; 136 (11): 2640–8. DOI: 10.1002/ijc.29315
32. Engeset D, Braaten T, Teucher B et al. Fish consumption and mortality in the European Prospective Investigation into Cancer and Nutrition cohort. Eur J Epidemiol 2015; 30 (1): 57–70. DOI: 10.1007/s10654-014-9966-4
33. Shui IM, Lindstrom S, Kibel AS et al. Prostate Cancer (PCa) Risk Variants and Risk of Fatal PCa in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. Eur Urol 2014; 65 (6): 1069–75. DOI: 10.1016
34. Schumacher FR, Olama AA, Berndt SI et al. Association analyses of more than 140,000 men identify 63 new prostate сancer susceptibility loci. Nat Genet 2018; 50 (7): 928–36. DOI: 10.1038/s41588-018-0142-8
35. Erbas В, Provenzano Е, Armes J et al. The natural history of ductal carcinoma in situ of the breast: a review. Breast Cancer Res Treat 2006; 97 (2): 135–44. DOI: 10.1007/s10549-005-9101-z
36. Peila R, Arthur R, Rohan TE. Risk factors for ductal carcinoma in situ of the breast in the UK Biobank cohort study. Cancer Epidemiol 2020; 64 (101648). doi.org/10.1016/j.canep.2019.101648
37. Knuiman MW, Jamrozik K, Welborn TA et al. Age and secular trends in risk factors for cardiovascular disease in Busselton. Australian J Public Health 1995; 19 (4): 375–82. DOI: 10.1111/j.1753-6405.1995.tb00389.x
38. Knuiman MW, Hung J, Divitini ML et al. Utility of the metabolic syndrome and its components in the prediction of incident cardiovascular disease: a prospective cohort study. Eur J Cardiovasc Prevention Rehabilitation 2009; 16 (2): 235–41. doi.org/10.1097/HJR.0b013e32832955fc
39. Li M, Eastman CJ, Waite KV et al. Are Australian children iodine deficient? Results of the Australian National Iodine Nutrition Study. Med J Australia 2006; 184 (4): 165–9.
40. Chan YX, Matthew W. Knuiman et al. Lower TSH and higher free thyroxine predict incidence of prostate but not breast, colorectal or lung cancer. Eur J Endocrinol 2017; 177: 297–308.
41. Liao X, Lochhead P, Nishihara R et al. Aspirin Use, Тumor PIK3CA Mutation, and Colorectal-Cancer Survival. N Engl J Med 2012; 367 (17): 1596–606. DOI: 10.1056/NEJMoa1207756
42. Betancourt LH, Szasz AM, Kuras M et al. The Hidden Story of Heterogeneous B-raf V600E Mutation Quantitative Protein Expression in Metastatic Melanoma-Association with Clinical Outcome and Tumor Phenotypes. Cancers (Basel) 2019; 11 (12): 2–18. DOI: 10.3390/cancers11121981
43. Lee YM, Grauffel C, Chen T et al. Factors Governing the Different Functions of Zn2+-Sites with Identical Ligands in Proteins. J Chem Inf Model 2019; 59 (9): 3946–54. DOI: 10.1021/acs.jcim.9b00617
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1. Malignant neoplasms in Russia in 2018 (morbidity and mortality). Eds. A.D. Kaprin, V.V. Starinskij, G.V. Petrova. Moscow, 2019 (in Russian).
2. Kaptain S, Tan LK, Chen B. Her-2/neu and breast cancer. Diagn Mol Pathol 2001; 10 (3): 139–52. DOI: 10.1097/00019606-200109000-00001
3. Bazel R. Her-2: the making of Herceptin, a revolutionary treatment for breast cancer. Random House, 1998.
4. Pao W, Miller V, Zakowski M et al. EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc Natl Acad Sci USA. 2004; 101 (36): 13306–11. DOI: 10.1073/pnas.0405220101
5. Kaprin A.D., Galkin V.N., Zhavoronkov L.P. et al. Sintez fundamental'nyh i prikladnyh issledovanij – osnova obespecheniya vysokogo urovnya nauchnyh rezul'tatov i vnedreniya ih v medicinskuyu praktiku. Radiaciya i risk. 2017; 26 (2): 26–37 (in Russian).
6. Riegman PH, Morente MM, Betsou F et al. Biobanking for better healthcare. Mol Oncol 2008; 2 (3): 213–22. DOI: 10.1016/j.molonc.2008.07.004
7. Smirnova Iu. Bankovskoe delo, kak put' k personifitsirovannoi meditsine. Nauka i zhizn'. 2013; 1: 14 (in Russian).
8. Fransson MN, Rial-Sebbag E, Brochhausen M et al. Toward a common language forbiobanking. Eur J Hum Genet 2015; 23 (1): 22–8. DOI: 10.1038/ejhg.2014.45
9. Dawber TR, Kannel WB. The Framingham Study. An epidemiologic approach to coronary heart disease. Circulation 1966; 34 (4): 553–55. DOI: 10.1161/01.cir.34.4.553
10. Asslaber M, Zatloukal K. Biobanks: transnational, European and global networks. Brief Funct Genom Proteomics 2007;6 (3): 193–201. DOI: 10.1093/bfgp/elm023.
11. Swede H, Stone CL, Norwood AR. National population-based biobanks for genetic research. Genet Med 2007; 9 (3): 141–9. DOI: 10.1097/gim.0b013e3180330039
12. Mohamadkhani A, Poustchi H. Repository of Human Blood Derivative Biospecimens in Biobank: Technical Implications. Middle East J Dig Dis 2015; 7 (2): 61–8.
13. Andersson K, Bray F, Arbyn M et al. The interface of population-based cancer registries and biobanks in etiological and clinical research–current and future perspectives. Acta Oncol 2010; 49 (8): 1227–34. DOI: 10.3109/0284186X.2010.496792
14. Elliott P, Peakman TC. The UK Biobank sample handlingand storage protocol for the collection, processing and archivingof human blood and urine. Int J Epidemiol 2008; 37 (2): 234–44. DOI: 10.1093/ije/dym276
15. Paskal W, Paskal АM, Dębski Т et al. Aspects of Modern Biobank Activity – Comprehensive Review. Pathol Oncol Res 2018; 24: 771–85.
16. Kofanova OA, Mommaerts K, Betsou F. Tube Polypropylene: A Neglected Critical Parameter for Protein Adsorption During Biospecimen Storage. Biopreserv Biobank 2015; 13 (4): 296–8. DOI: 10.1089/bio.2014.0082
17. ISO 20387:2018. https://www.iso.org/standard/67888.html
18. Guerin JS, Murray DW, McGrath MM et al. Molecular medicine ireland guidelines for standardized biobanking. Biopreserv Biobank 2010; 8 (1): 3–63. DOI: 10.1089/bio.2010.8101
19. Leitsalu L, Haller T, Esko T et al. Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu. Int J Epidemiol 2015; 44 (4): 1137–47. DOI: 10.1093/ije/dyt268
20. Zawati M, Borry P, Howard H et al. Closure of populationbiobanks and direct-to-consumer genetic testing companies. Hum Genet 2011; 130 (3): 425–32. DOI: 10.1007/s00439-011-1019-4
21. Awadalla P, Boileau C, Payette Y et al. Cohort profile of the CARTaGENE study: Quebec's population-based biobank for public health and personalized genomics. Int J Epidemiol 2013; 42 (5): 1285–99. DOI: 10.1093/ije/dys160
22. Bonnelykke K, Sleiman P, Nielsen K et al. Agenome-wideas sociation study identifies CDHR3 asasus ceptibility locus for early childhoodasthm a with sever exacerbations. Nat Genet 2014; 46 (1): 51–5.
23. Haukkala A, Kujala E, Alha P et al. The return of unexpected research results in a biobankstudy and referral to health care for heritable long QT syndrome. Public Health Genomics 2013; 16 (5): 241–50. DOI: 10.1159/000354105
24. Wood AR, Esko T, Yang J et al. Defining the role of common variation in the genomicand biological architecture of adult human height. Nat Genet 2014; 46 (11): 1173–86. DOI: 10.1038/ng.3097
25. Reza M, Cox D, Phillips L et al. MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. Neuromuscul Disord 2017; 27 (11): 1054–64. DOI: 10.1016/j.nmd.2017.07.001
26. De Souza YG, Greenspan JS Biobanking past, present and future: responsibilitie sand benefits. AIDS (London) 2013; 27 (3): 303–12. DOI: 10.1097/QAD.0b013e32835c1244
27. Check Hayden E. Proposed Ebola biobank would strengthen African science. Nature 2015; 524 (7564): 146–7. DOI: 10.1038/524146a
28. Riegman PH, Morente MM, Betsou F et al. Biobanking for better healthcare. Mol Oncol 2008; 2 (3): 213–22. DOI: 10.1016/j.molonc.2008.07.004
29. Goebell PJ, Morente MM. New concepts of biobanks – strategic chance for uro-oncology. Urol Oncol 2010; 28 (4): 449–57. DOI: 10.1016/j.molonc.2008.07.004
30. Ose J, Fortner RT, Schock H et al. Bueno-de-Mesquita HBetal Insulin-like growth factor-I and risk of epithelial invasive ovarian cancer by tumour characteristics: results from the EPIC cohort. Br J Cancer 2015; 112 (1): 162–6. DOI: 10.1038/bjc.2014.566
31. McKenzie F, Ferrari P, Freisling H et al. Healthy life style and risk of breast cancer among postmenopausal women in the European Prospective Investigation into Cancerand Nutrition cohort study. Int J Cancer 2015; 136 (11): 2640–8. DOI: 10.1002/ijc.29315
32. Engeset D, Braaten T, Teucher B et al. Fish consumption and mortality in the European Prospective Investigation into Cancer and Nutrition cohort. Eur J Epidemiol 2015; 30 (1): 57–70. DOI: 10.1007/s10654-014-9966-4
33. Shui IM, Lindstrom S, Kibel AS et al. Prostate Cancer (PCa) Risk Variants and Risk of Fatal PCa in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium. Eur Urol 2014; 65 (6): 1069–75. DOI: 10.1016
34. Schumacher FR, Olama AA, Berndt SI et al. Association analyses of more than 140,000 men identify 63 new prostate сancer susceptibility loci. Nat Genet 2018; 50 (7): 928–36. DOI: 10.1038/s41588-018-0142-8
35. Erbas В, Provenzano Е, Armes J et al. The natural history of ductal carcinoma in situ of the breast: a review. Breast Cancer Res Treat 2006; 97 (2): 135–44. DOI: 10.1007/s10549-005-9101-z
36. Peila R, Arthur R, Rohan TE. Risk factors for ductal carcinoma in situ of the breast in the UK Biobank cohort study. Cancer Epidemiol 2020; 64 (101648). doi.org/10.1016/j.canep.2019.101648
37. Knuiman MW, Jamrozik K, Welborn TA et al. Age and secular trends in risk factors for cardiovascular disease in Busselton. Australian J Public Health 1995; 19 (4): 375–82. DOI: 10.1111/j.1753-6405.1995.tb00389.x
38. Knuiman MW, Hung J, Divitini ML et al. Utility of the metabolic syndrome and its components in the prediction of incident cardiovascular disease: a prospective cohort study. Eur J Cardiovasc Prevention Rehabilitation 2009; 16 (2): 235–41. doi.org/10.1097/HJR.0b013e32832955fc
39. Li M, Eastman CJ, Waite KV et al. Are Australian children iodine deficient? Results of the Australian National Iodine Nutrition Study. Med J Australia 2006; 184 (4): 165–9.
40. Chan YX, Matthew W. Knuiman et al. Lower TSH and higher free thyroxine predict incidence of prostate but not breast, colorectal or lung cancer. Eur J Endocrinol 2017; 177: 297–308.
41. Liao X, Lochhead P, Nishihara R et al. Aspirin Use, Тumor PIK3CA Mutation, and Colorectal-Cancer Survival. N Engl J Med 2012; 367 (17): 1596–606. DOI: 10.1056/NEJMoa1207756
42. Betancourt LH, Szasz AM, Kuras M et al. The Hidden Story of Heterogeneous B-raf V600E Mutation Quantitative Protein Expression in Metastatic Melanoma-Association with Clinical Outcome and Tumor Phenotypes. Cancers (Basel) 2019; 11 (12): 2–18. DOI: 10.3390/cancers11121981
43. Lee YM, Grauffel C, Chen T et al. Factors Governing the Different Functions of Zn2+-Sites with Identical Ligands in Proteins. J Chem Inf Model 2019; 59 (9): 3946–54. DOI: 10.1021/acs.jcim.9b00617
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Медицинский радиологический научный центр им. А.Ф. Цыба – филиал ФГБУ «Научный медицинский исследовательский центр радиологии» Минздрава России, Обнинск, Россия
*grivtsova@mail.ru
________________________________________________
Andrei D. Kaprin, Sergei A. Ivanov, Vladimir A. Petrov, Natalia N. Dukhova, Nina Iu. Dvinskikh, Natalia A. Falaleeva, Liudmila Iu. Grivtsova*
Tsyb Medical Radiological Research Centre – branch of the National Medical Research Radiological Centre, Obninsk, Russia
*grivtsova@mail.ru