Understanding SNPs and Cancer：理解单核苷酸多态性与肿瘤.ppt

Note that HPV integration on chromosome 5 would not be detected by PICNIC, while TERT amplification and chromothripsis would be. National Cancer Institute Understanding Cancer and Related Topics Understanding Cancer NCI Web site: /cancertopics/understandingcancer * Very recent paper (July, 2013) from TCGA on Renal Cell Carcinoma (RCC). National Cancer Institute Understanding Cancer and Related Topics Understanding Cancer NCI Web site: /cancertopics/understandingcancer * Cancer Bioinformatics Tom Doman Bioinformatics Scientist Eli Lilly Company Informatics 519 guest lecture IU Bloomington Sept-11-2013 Cancer Facts Figures Leading cause of death among Americans under age 85 (surpassed heart disease in 1999) 200+ different types affecting 60+ different organs Genes and Cancer Chromosomes are DNA molecules Heredity Radiation Chemicals Viruses DNA Mutation Additions Deletions Normal gene Single base change DNA C T A G C G A A C T A C A G G C G C T A A C A C T A G C T A A C T A C A G A A C T A C Oncogenes Mutated/damaged oncogene Oncogenes accelerate cell growth and division Cancer cell Normal cell Normal genes regulate cell growth Tumor Suppressor Genes Normal genes prevent cancer Remove or inactivate tumor suppressor genes Mutated/inactivated tumor suppressor genes Damage to both genes leads to cancer Cancer cell Normal cell Tumor Suppressor Genes Act Like a Brake Pedal Tumor Suppressor Gene Proteins DNA Cell nucleus Signaling enzymes Growth factor Receptor Transcriptionfactors Cell proliferation p53 Tumor Suppressor Protein Triggers Cell Suicide Normal cell Cell suicide (Apoptosis) p53 protein Excessive DNA damage DNA Repair Genes Cancer No cancer No DNA repair Normal DNA repair Base pair mismatch T C A T C A G T C G T C A G C A G T C G A G T G A G T A G T C A T C T C A T C Cancer Tends to Involve Multiple Mutations Malignant cells invade neighboring tissues, enter blood vessels, and metastasize to different site