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Genetics and Genomics in Cancer 2013: How Genomics is Changing Cancer Care, Dr. Lea Velsher

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Dr. Lea Velsher's presentation from the 2013 Regional Oncology Conference

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Genetics and Genomics in Cancer 2013: How Genomics is Changing Cancer Care, Dr. Lea Velsher

  1. 1. Genomics and Cancer 2013 How Genomics is Changing Cancer Care
  2. 2. Faculty/Presenter Disclosure Faculty: Dr. Lea Velsher Advisor for Thunder Bay Genetics, NRGP Physician at North York General Hospital, Genetics Consultant in Genetics for Medcan Clinic No conflicts of interest to declare
  3. 3. Learning • Explain how the genetics of sporadic and hereditary cancers differ • Review features that suggest an inherited cancer risk • Discuss how genomics is being integrated into cancer diagnosis and treatment
  4. 4. • Somatic Cells • Germ Cells
  5. 5. Epigenomics • Method for turning genes ‘off’ or ‘on’ • Reversible changes to chromosomes • No mutations in the DNA code itself • Environment may alter epigenomics in cells 5
  6. 6. Epigenomics: regulating expression of genes
  7. 7. Cancer is a genetic disease: accumulation of mutations and epigenomic changes in somatic cells 7
  8. 8. What patterns make us think of a hereditary risk? • Family history • Personal history • Pathology • Unusual features
  9. 9. Family History • 3 or more close relatives with cancer • Cancer < 50 years old • Clusters of certain cancer types • Person has >1 primary cancer
  10. 10. 52 y.o. woman Ductal Breast Cancer Breast 60 Breast 75 Breast 38 3 2
  11. 11. Personal history Colon cancer 29 years old
  12. 12. Pathology of the tumour • Medullary Breast Cancer: – Triple negative in premenopausal woman – Consider BRCA1 testing • Right sided mucinous undifferentiated colon cancer – Consider doing Immunohistochemistry for Lynch (HNPCC) • Medullary thyroid cancer – Consider genetic testing for MEN2
  13. 13. Unusual findings Multiple polyps on colonoscopy
  14. 14. Sebaceous Adenoma • A benign neoplasm of sebaceous tissue, with a predominance of mature secretory sebaceous cells.
  15. 15. Most cancer is sporadic
  16. 16. We can use the genomic changes unique to the cancer for: •Prognosis •Therapy •Screening
  17. 17. Genomic analysis of the tumour cells 19
  18. 18. For ER +, Node - tumours
  19. 19. Screening for cancer using cancer biomarkers
  20. 20. Genetic biomarkers as a screen • Methylated Septin 9 test – Blood test – Looks at a gene that is methylated in colon cancer – Sensitivity and specificity maybe 60 - 85%
  21. 21. Targeted Therapy Altered genome leads to altered protein products Target the cancer cells based on their altered genotype and phenotype
  22. 22. Pharmacogenomics • Germ line polymorphisms • Alter pharmacokinetics/dynamics of chemotherapy agents • UGT1A1 – homozygous SNP reduces activity – Increases toxicity of Irinotecan 24
  23. 23. E.G. CYP2D6 and Tamoxifen
  24. 24. What will the future hold? • Cheaper, simpler, faster testing • Incorporation of genomic markers into risk algorithms • Targeted ‘personalized’ treatment based on genomic information • Pharmacogenomic testing at point of care
  25. 25. Summary Points • All cancer is ‘genetic’ but only a small number of cases are ‘hereditary’ • Genomic and epigenomic changes within the cancer (somatic mutations) can be used in screening and treatment • A person’s genomic (germ line variations) make up may influence treatment
  26. 26. Thank You

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