Pobierz prezentację

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Pobierz prezentację

  1. 1. From GENES to INNOVATIVE ONCOLOGY
  2. 2. Luck!!!Luck!!!  ~38 mln country with high level~38 mln country with high level of genetic homogeneityof genetic homogeneity PolandPoland
  3. 3. BRCA1 FOUNDER MUTATIONSBRCA1 FOUNDER MUTATIONS IN POLANDIN POLAND GÓRSKI B. ET AL.GÓRSKI B. ET AL.  PATENT NO P335917PATENT NO P335917  MULTIPLEX PCR - 50€MULTIPLEX PCR - 50€
  4. 4. BRCA1 – REGISTRYBRCA1 – REGISTRY – SZCZECIN – POLAND– SZCZECIN – POLAND >4739 CARRIERS>4739 CARRIERS THE LARGEST REGISTRYTHE LARGEST REGISTRY IN THE WORLDIN THE WORLD SzczecinSzczecin May 11May 11, 200, 20099
  5. 5. Poland – limited number of founder / recurrentPoland – limited number of founder / recurrent mutations in other cancer susceptibility genesmutations in other cancer susceptibility genes  NBS1,NBS1,  NOD2,NOD2,  CHEK2,CHEK2,  MSH2,MSH2,  MLH1,MLH1,  APCAPC..
  6. 6. PENETRANCEPENETRANCE AND PROPORTION OF CANCERSAND PROPORTION OF CANCERS 0%0% 10%10% 20%20% 30%30% 40%40% 50%50% 60%60% 70%70% 80%80% 90%90% 0%0% 20%20% 40%40% 60%60% 80%80% 100%100% PENETRANCEPENETRANCE PROPORTIONPROPORTION
  7. 7.  Genetic contribution to all cancers:Genetic contribution to all cancers:  the first demonstration usingthe first demonstration using the model of breast cancersthe model of breast cancers from Poland stratifiedfrom Poland stratified by ageby age at diagnosisat diagnosis and tumour pathologyand tumour pathology Lubiński J. et al. Breast Can Res Treat 15 April 2008Lubiński J. et al. Breast Can Res Treat 15 April 2008 Patent US61/069,403 31.03.2009Patent US61/069,403 31.03.2009
  8. 8. ConclusionConclusion  At present, the major significance of theAt present, the major significance of the current findings is the proof of principlecurrent findings is the proof of principle that there isthat there is no cancer without a geneticno cancer without a genetic componentcomponent..  DNA analysis will be the initial startingDNA analysis will be the initial starting pointpoint for prevention, surveillance andfor prevention, surveillance and treatment schemes for all adults.treatment schemes for all adults.
  9. 9. BRCA1 PROPHYLACTICSBRCA1 PROPHYLACTICS  Sodium selenite – clinical trialSodium selenite – clinical trial 11343343 BRCA1 carriersBRCA1 carriers 2.92.9 yrs supplementationyrs supplementation Decoding –Decoding – 07-10.07-10.20020088
  10. 10. New cases of cancer in the studyNew cases of cancer in the study Placebo Selenium Total Breast 29 41 70 Ovary 11 14 25 Fallopian 1 2 3 Peritoneal 0 1 1 Endometrial 3 3 6 Lung 1 0 1 Brain 1 0 1 Total 46 61 107 Two individuals had two cancers Lubiński J. et al. The Lancet Oncology 2009 (under review)Lubiński J. et al. The Lancet Oncology 2009 (under review)
  11. 11. Hazard ratios associated with seleniumHazard ratios associated with selenium supplementation for various cancerssupplementation for various cancers Type of cancer Hazard ratio 95% confidence interval p-value Primary breast cancer 1.35 0.72 - 2.51 0.35 Contralateral breast cancer 1.53 0.73 - 3.21 0.26 Ovarian/fallopian cancer 1.26 0.59 - 2.70 0.55 Any cancer 1.36 0.93 - 2.01 0.12 Lubiński J. et al. The Lancet Oncology 2009 (under review)Lubiński J. et al. The Lancet Oncology 2009 (under review)
  12. 12. Cumulative risk of cancer (all types) among seleniumCumulative risk of cancer (all types) among selenium women randomised to selenium or placebowomen randomised to selenium or placebo Lubiński J. et al. The Lancet Oncology 2009 (under review)Lubiński J. et al. The Lancet Oncology 2009 (under review)
  13. 13. Proportion of BRCA1 mutation carriers affected by breast/ovarianProportion of BRCA1 mutation carriers affected by breast/ovarian cancers depending on selenium concentration in peripheral bloodcancers depending on selenium concentration in peripheral blood Selenium concentration (μg/l) Placebo Selenium supplementation Total Br % Ov % Br % Ov % % <30 57/0 - 57/1 1.8 30/1 3.3 30/0 - 87/2 2.3 31-40 74/3 4.1 74/0 - 39/0 - 39/0 - 113/3 2.7 41-50 97/3 3.1 97/0 - 73/2 2.7 73/0 - 170/5 3.0 51-60 71/1 1.4 71/0 - 58/4 6.9 58/0 - 129/5 3.9 61-70 46/4 8.7 46/0 - 59/3 5.1 59/2 3.4 105/9 8.6 71-80 23/6 26.1 23/1 4.3 41/4 9.8 41/1 2.4 64/12 18.8 81-90 8/3 37.5 8/2 2.5 31/5 16.1 31/0 - 39/10 25.6 91-100 5/1 20.0 5/1 20.0 22/3 13.6 22/1 4.5 27/6 22.2 >100 5/2 40.0 5/1 20.0 30/9 30.0 30/5 16.7 35/17 48.6 Total 386/23 6.0 386/5 1.6 383/31 8.1 383/9 2.3 Lubiński J. et al.Lubiński J. et al. Patent application 2009 (pending)Patent application 2009 (pending)
  14. 14.  Se concentration in the blood is the strongSe concentration in the blood is the strong marker of cancer risk for BRCA1 carriersmarker of cancer risk for BRCA1 carriers PLACEBOPLACEBO <50<50 169/4169/4 ≥≥ 5050 134/18134/18 μμg/lg/l p = 0.0002; OR = 6.4; CI – 2.1 – 19.4p = 0.0002; OR = 6.4; CI – 2.1 – 19.4 Lubiński J. et al.Lubiński J. et al. Patent application 2009 (pending)Patent application 2009 (pending)
  15. 15. Genotypes associatedGenotypes associated with sensitivity to Se?with sensitivity to Se? 6 candidate genes6 candidate genes (13 variants) involved(13 variants) involved in Se metabolismin Se metabolism
  16. 16. Gene XGene X Genotype X1 X2 Se conc. Se Pl Se Pl < 75 μg/l 68/1 97/3 128/7 177/7 ≥ 75 μg/l 26/2* 12/7* 70/16 14/5 Total 94/3** 109/10** 198/23** 191/12** * 26/2 vs 12/7; p=0.0017; OR=16.8; CI=2.65-106.2 ** 10/3 vs. 12/23; p=0.011; OR=6.4; CI=1.47-27.7
  17. 17.  BRCA1 carriers should considerBRCA1 carriers should consider the options of:the options of: a)a) Supplementation with Sel-BRCA1Supplementation with Sel-BRCA1®® if they have X1 genotypeif they have X1 genotype b)b) Lowering of Se level (diet, pharmaceuticals)Lowering of Se level (diet, pharmaceuticals) if they are X2 and Se level is above 50if they are X2 and Se level is above 50 μμg/lg/l CONCLUSIONCONCLUSION
  18. 18. PROSTATE CANCER RISKPROSTATE CANCER RISK DNA testingDNA testing  ≥≥ 1 prostate cancer among relatives1 prostate cancer among relatives ++  CHEK 2, NBS 1 or BRCA 1 (C61G,CHEK 2, NBS 1 or BRCA 1 (C61G, 4153 delA)4153 delA)  ~10× increased risk~10× increased risk  PSA, saturation biopsiesPSA, saturation biopsies
  19. 19. Type of CHTH No of patients CR PR No response BRCA1 – 44 AT 15 0 6 9 Another types 29 4 25 0 Total 44 4 31 9 Non-BRCA1 – 41 AT 12 0 12 0 Another types 29 2 25 2 Total 41 2 37 2 Breast cancers with BRCA1 TreatmentBreast cancers with BRCA1 Treatment – Neo-Adjuvant therapy– Neo-Adjuvant therapy Byrski T et al.: Br Ca Res Treat 2007Byrski T et al.: Br Ca Res Treat 2007
  20. 20.  BRCA1 breast cancer cell linesBRCA1 breast cancer cell lines - resistance to taxansresistance to taxans - sensitivity to cis-platinumsensitivity to cis-platinum TREATMENTTREATMENT
  21. 21. Response to treatmentResponse to treatment Response No. % Clinical response Complete response 9 90 Partial response 1 10 No change 0 0 Progressive disease 0 0 Pathologic response Complete pathologic response 9 90 Partial reseponse 1 10 No response 0 0 Residual disease in breast None 10 100 <1 cm 0 0 1–3 cm 0 0 4–9 cm 0 0 >9 cm 0 0 Number of lymph nodes positive 0 9 90 1–3 1 10 4–9 0 0 >9 0 0
  22. 22. Numbers of patients treated with,Numbers of patients treated with, and responding to different chemotherapyand responding to different chemotherapy regimensregimens Regimen Number treated Number of PCR %PCR CMF 14 1 7% AC 23 5 22% FAC 28 6 21% AT 25 2 8% Cis-platinum 12 10 83% C: cyclophosphamide M: methotrexate F: 5-flourouracil A: adriamycin (doxorubicin) T: docetaxel CMF: category includes four patients with CMFP and two patients with CMFVP Byrski T. et al. J Clin Oncol 2009 (accepted)Byrski T. et al. J Clin Oncol 2009 (accepted)
  23. 23.  Prophylactic adnexectomyProphylactic adnexectomy  TamoxifenTamoxifen  ChemotherapyChemotherapy DIFFERENCES IN TREATMENTDIFFERENCES IN TREATMENT OF BRCA1 BREAST CANCERSOF BRCA1 BREAST CANCERS
  24. 24. FURTHER INVESTIGATIONSFURTHER INVESTIGATIONS  Monotherapy with cis-platinumMonotherapy with cis-platinum of BRCA-1 dependant:of BRCA-1 dependant: 1. Disseminated breast cancers1. Disseminated breast cancers 2. Cancers of other sites2. Cancers of other sites
  25. 25. CHEMOTHERAPYCHEMOTHERAPY  Known drugs but selectedKnown drugs but selected for sub-groups of patients !!!for sub-groups of patients !!!  New drugs created againstNew drugs created against constitutional changes !!!constitutional changes !!!
  26. 26. ADVANTAGESADVANTAGES  Cancer bio-bank probably the largestCancer bio-bank probably the largest in the world with biological samplesin the world with biological samples and clinical data from > 200 000 cancerand clinical data from > 200 000 cancer patients, relatives and controls.patients, relatives and controls.  Exclusive access basing on agreementExclusive access basing on agreement with its owner – IHCC, PMU, Szczecinwith its owner – IHCC, PMU, Szczecin PolandPoland
  27. 27. ADVANTAGESADVANTAGES  Very unique system for scientificVery unique system for scientific progress at IHCC on elaboration of new:progress at IHCC on elaboration of new: diagnostic genetic tests, supplementsdiagnostic genetic tests, supplements for cancer prevention, treatmentfor cancer prevention, treatment protocols, drugsprotocols, drugs  Homogenous Polish populationHomogenous Polish population – very low cost of genetic studies– very low cost of genetic studies  Infrastructure of IHCCInfrastructure of IHCC
  28. 28. LATESTS ACHIEVEMENTSLATESTS ACHIEVEMENTS  5 signed agreements on clinical trials5 signed agreements on clinical trials  5 approved international patents5 approved international patents  realisation of research project financed byrealisation of research project financed by Polish Ministry of Science (60%) – fromPolish Ministry of Science (60%) – from October 2008October 2008  large investments in R&D structure –large investments in R&D structure – European projectsEuropean projects  selling of counselling/DNA tests via Internetselling of counselling/DNA tests via Internet
  29. 29. READ GENEREAD GENE  Stock exchange WarszawaStock exchange Warszawa – New Connect:– New Connect:  12.02.200912.02.2009  2.70 PLN2.70 PLN  11.05.200911.05.2009  4,35 PLN4,35 PLN 61%61%
  30. 30. PLANS FOR 2009PLANS FOR 2009  Income: ~ 1 500 000 PLNIncome: ~ 1 500 000 PLN  Profit: ~ 500 000 PLNProfit: ~ 500 000 PLN
  31. 31. PLANS FOR 2009PLANS FOR 2009 Major investment:Major investment:  Construction of R&D Read-Gene centreConstruction of R&D Read-Gene centre with laboratories (diagnostics, research)with laboratories (diagnostics, research) outpatient and chemotherapy clinicsoutpatient and chemotherapy clinics  8 000 000 PLN8 000 000 PLN  60% - structural funds – Innovative60% - structural funds – Innovative Economy Operational ProgrammeEconomy Operational Programme
  32. 32. Main task: global leadership in cancerMain task: global leadership in cancer chemopreventionchemoprevention READ GENE SAREAD GENE SA
  33. 33. MAJOR GOALS 5-10 y: PROFITMAJOR GOALS 5-10 y: PROFIT Clinical trials DNA testing Network of outpatient clinics Chemoprevention  main goal TOTAL: > 4 000 000 EUR per/year
  34. 34. Welcome for collaboration…
  35. 35. Welcome for collaborationWelcome for collaboration - 48 602 784 784- 48 602 784 784 - e-mail:- e-mail: office@read-gene.comoffice@read-gene.com -- www.read-gene.comwww.read-gene.com - www.hereditarycancer.net- www.hereditarycancer.net READ-GENEREAD-GENE Read-Gene SA, 2008Read-Gene SA, 2008
  36. 36. Jaki wpływ ma patent na polskąJaki wpływ ma patent na polską innowacyjną gospodarkę?innowacyjną gospodarkę? A jaki ma wpływ innowacyjnośćA jaki ma wpływ innowacyjność w Państwa przedsiębiorstwie ?w Państwa przedsiębiorstwie ?  Fundamentalny — jest to najlepszaFundamentalny — jest to najlepsza forma uwiarygodnienia innowacyjnościforma uwiarygodnienia innowacyjności produktuproduktu
  37. 37. Jaki wpływ ma patent na PaństwaJaki wpływ ma patent na Państwa działalność – rola i znaczeniedziałalność – rola i znaczenie ochrony własności intelektualnejochrony własności intelektualnej w Państwa działalności ?w Państwa działalności ?  Fundamentalny — testy DNA,Fundamentalny — testy DNA, farmaceutyki muszą być zabezpieczonefarmaceutyki muszą być zabezpieczone patentamipatentami
  38. 38. Ocena skuteczności, efektywnościOcena skuteczności, efektywności i zasadności prowadzoneji zasadności prowadzonej polityki innowacyjnejpolityki innowacyjnej w odniesieniu do patentóww odniesieniu do patentów  Programy: Min. Nauki, PARPProgramy: Min. Nauki, PARP  Bardzo duże ograniczeniaBardzo duże ograniczenia  Np. aplikacje 2x w rokuNp. aplikacje 2x w roku  Brak pokrycia kosztów postępowaniaBrak pokrycia kosztów postępowania już rozpoczętegojuż rozpoczętego  Zbyt duży udział własnyZbyt duży udział własny Brak systemuBrak systemu
  39. 39. Ocena skuteczności, efektywnościOcena skuteczności, efektywności i zasadności prowadzoneji zasadności prowadzonej polityki innowacyjnejpolityki innowacyjnej w odniesieniu do patentóww odniesieniu do patentów Brak systemuBrak systemu  Innowacje w fazie patentowania i początkowychInnowacje w fazie patentowania i początkowych prac przed szeroką komercjalizacją muszą byćprac przed szeroką komercjalizacją muszą być realizowane przez badaczy (nie przedsiębiorców)realizowane przez badaczy (nie przedsiębiorców) i dlatego wymagają wsparcia państwai dlatego wymagają wsparcia państwa
  40. 40. Jakie korzyści niesie za sobą patent?Jakie korzyści niesie za sobą patent? Straty, czy korzyści ?Straty, czy korzyści ?  tylko korzyścitylko korzyści  odkryć, których ujawnienie możeodkryć, których ujawnienie może przynieść straty nie patentujemyprzynieść straty nie patentujemy

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