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Hereditary Cancer Syndromes

Hereditary Cancer Syndromes. Marek Svoboda Masaryk Memorial Cancer Institute & Faculty of Medicine, Masaryk University. Hereditary Cancer Syndromes. Human Genome Milestones from the perspective of cancer genetics. 1866 – Gregor Mendel, Brno, Mendelian inheritance

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Hereditary Cancer Syndromes

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  1. Hereditary Cancer Syndromes Marek Svoboda Masaryk Memorial Cancer Institute & Faculty of Medicine, Masaryk University

  2. Hereditary Cancer Syndromes Human Genome Milestonesfrom the perspective of cancer genetics 1866 – Gregor Mendel, Brno, Mendelian inheritance 1953 – DNA structure (Nature, Watson, J.D., Crick, F.H ) 1974 – Knudson AG, study of retinoblastomas: “two-hit hypothesis“ 1982 – identification of the first human oncogenes „H-ras“ a „K-ras“ 1987 – identification of the Rb1 tumor supresor gene 1999 – Fearon-Vogelstein´s evolutionary model of carcinogenesis 2000 –„the next generation sequencing“ (DNA sequencers on the market) 2001 –„the draft“ of the human genome (Nature and Science) 2003 – the Human Genome Project finished the human genome sequence (ca 30 000 genes)

  3. Hereditary Cancer Syndromes Basic Dogmas of Oncology I) Cancer is a genetic disease Aberrant gene expression is a key step in the initiation, promotion and progression of the tumor II) Carcinogenesis is a multistep process Carcinogenesis is a multistep process involving alterations in at least two distinct classes of genes III) Biological correlates of gene expression are identifiable Genetic information DNA  RNA Molecular structure of protein Biochemical function of protein Symptoms (Phenotype)

  4. Hereditary Cancer Syndromes Hereditary Cancer Syndroms Rb1, p53, p21

  5. Hereditary Cancer Syndromes Hereditary Cancer Syndroms

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  11. Hereditary Cancer Syndromes Hereditary Cancer Syndroms IDENTIFYING AT-RISK PATIENTS

  12. Hereditary Cancer Syndromes Hereditary Cancer Syndroms ovarian ca 53 yo prostate ca 45 yo breast ca 45 yo breast ca 34 yo ovarian ca 45 yo

  13. Hereditary Cancer Syndromes Hereditary Cancer Syndroms SELECT AND OFFER TEST

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