FamilialCa733421

FamilialCa733421 - FAMILIAL CANCER CANCER IS A GENETIC...

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IBGP Cell Proliferation 1 3/5/02 1 FAMILIAL CANCER April 21, 2004 Jas C Lang PhD lang.8@osu.edu CANCER IS A GENETIC DISEASE Is Cancer a Hereditary Disease? What Causes Cancer? NORMAL CELL CANCER CELL ? Carcinogenic Chemicals UV Radiation Viruses NORMAL CELL CANCER CELL ? Cancer is the abnormal accumulation of cells caused by altering: - proliferation rate (deregulated) - death rate (altered apoptosis) - differentiation capacity (differentiation blocked) - DNA repair efficiency (DNA repair defective) Cancer: Definition Altered Cell Proliferation and Cancer Each human cell contains approximately 30-40,000 genes Some genes are responsible for control of cell proliferation If these genes are altered, cell proliferation becomes abnormal Abnormal cell proliferation is a hallmark of cancer
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IBGP Cell Proliferation 1 3/5/02 2 UV Carcinogenic Chemicals Radiation NORMAL CELL CANCER CELL DNA Damage Point Mutations Rearrangements Alters DNA of genes controlling cell proliferation. Proliferation becomes abnormal (translocation, deletions, amplification) Replication Errors Viruses How is Normal Cell Proliferation Controlled? Progression through the cell cycle and ultimately cell division is controlled by the regulated expression of genes Involves equilibrium between expression of genes responsible for positive regulation of cell proliferation and expression of genes responsible for negative regulation of cell proliferation What Causes Abnormal Cell Proliferation? (1) Abnormal expression of a gene which produces a positive stimulus for cell proliferation (a) Increased expression (b) Temporal deregulation (c) Production of an abnormal gene product (d) Combination of above Genes which produce a positive stimulus for cell proliferation and whose abnormal expression is involved in the conversion of cells to a transformed phenotype are called ONCOGENES What Causes Abnormal Cell Proliferation? (2) Abnormal expression of a gene which produces a negative stimulus for cell proliferation (a) Loss of gene product (b) Mutation of gene product Genes which produce a negative stimulus for cell proliferation and whose function must be inactivated for cell transformation to occur are called TUMOR SUPPRESSOR GENES NORMAL CELL CANCER CELL Loss of function of one or more tumor suppressor genes Abnormal expression of one or more oncogenes + UV Carcinogenic Chemicals Radiation NORMAL CELL CANCER CELL DNA Damage Point Mutations Rearrangements Alters DNA of genes controlling cell proliferation (oncogenes and tumor suppressor genes). Proliferation becomes deregulated (translocation, deletions, amplification) Replication Errors Viruses
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IBGP Cell Proliferation 1 3/5/02 3 Is Cancer A Hereditary Disease? -Overall, approximately 15% of cases of cancer have a hereditary component Familial (Hereditary) Cancer The inheritance of a predisposing mutation in a tumor suppressor gene The inheritance of a predisposing mutation in an oncogene: - RET in cancer syndromes - Familial Medullary Thyroid Carcinoma
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FamilialCa733421 - FAMILIAL CANCER CANCER IS A GENETIC...

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