PPT-Cancer Sequencing What is Cancer?

Definitions A class of diseases characterized by malignant growth of a group of cells Growth is uncontrolled Invasive and Damaging Often able to metastasize An instance of such a disease a malignant tumor. Each year more people die of lung cancer than of colon breast and prostate canc ers combined Most lung cancers could be prevented because they are related to smoking or secondhand smoke or less often to exposure to radon or other environmental facto DNA pol error rate . ~. 10. -9. per base . copied. How many errors in a . “typical” . somatic cell?. Most errors don’t have detectable effects. But some errors do: . . oncogenes. N. . – dominant. Andrew Gentles. CCSB NGS workshop. September 2012. You’ve slogged through QC, trimming, alignment, realignment, variant calling. What next ?. Mutational processes molding the genomes of 21 breast cancers/The life history of 21 breast cancers. Credits for slides: Dan . Newburger. What is Cancer?. Definitions. A class of diseases characterized by malignant growth of a group of cells. Growth is uncontrolled. Invasive and Damaging. Often able to metastasize. Ready for Prime Time?. DANA-FARBER . CANCER INSTITUTE. Nikhil C. Munshi, MD . Professor of Medicine . Harvard Medical School. Boston VA Healthcare System. Director . Basic and Correlative Sciences. Dana-Farber Cancer . What is Cancer?. Definitions. A class of diseases characterized by malignant growth of a group of cells. Growth is uncontrolled. Invasive and Damaging. Often able to metastasize. An instance of such a disease (a malignant tumor). Next Generation Sequencing. Hanlee Ji, M.D. . ã . Stanford University. Overview. Principles of next generation . DNA sequencing. Analysis of genetic variation and research applications. for Colorectal . Cancer. Ulrike (. Riki. ) Peters. Fred Hutchinson Cancer Research Center. University of Washington. Overview. Significance and rationale. . Current efforts on rare and less frequent variants. in Advanced Solid Tumors. EDRN Biomarker Development Lab. Arul M. Chinnaiyan, M.D., Ph.D.. American Cancer Society Research Professor. Howard Hughes Medical Institute. Sequencing. Buccal swab . or. Blood. Clinical Implementation in CLIA/CAP facility. Shashikant Kulkarni, M.S (Medicine)., Ph.D., FACMG. Associate Professor of Pediatrics, Genetics, Pathology and Immunology. Medical Director of Genomics and Pathology Services. Tim Graubert, MD. Division of Oncology, Stem Cell Biology Section. Washington University School of Medicine. Siteman Cancer Center. Genome Center at Washington University. Genome Center Leadership. Rick Wilson. for suspected cancer Information for patients and family members Genomic Medicine Service NHS What is your genome? Your genome is the information needed to build the human body and keep it health Newburger. What is Cancer?. Definitions. A class of diseases characterized by malignant growth of a group of cells. Growth is uncontrolled. Invasive and Damaging. Often able to metastasize. An instance of such a disease (a malignant tumor). cyto. )genetics in a diagnostic setting. Basic technical aspects such as conventional karyotyping, methods and principles in fluorescence . in situ . hybridization (FISH), micro-array genomic profiling, QPCR, gene sequencing and new technologies such as Optical Genome Mapping and Whole Genome sequencing will be presented. In addition to the various laboratory techniques, there will be presentations on quality assessment, ISCN nomenclature and genetic aberrations in different types of leukemia. The program includes two panel discussions (for live audience only) in which participants will have the opportunity to ask questions and present their own patient cases..