PPT-Oncogenic   CSF3R  mutations in chronic 

neutrophilic  leukemia and atypical CML N Engl J Med 2013 May 9 3681781 Speaker CR 呂學儒 醫師 Moderator VS 蕭樑材醫師 Definition of CNL and atypical CML Hematology Am Soc . Mutations. Hollywood’s images of . mutation. Mutations. Actual Mutations . in fruit flies. What is a mutation?. A mutation is any change in a cell’s DNA. A mutation can occur in an individual gene. Bases:. A, T, C, G. Codons:. Genes:. Chromosome:. DNA. Words. Chapters. Book. Not passed on to offspring. Can be passed on to offspring. M. ito. sis. M. eio. sis. Mutations. in Cell Division. A single gene. By Karl . Menzel. Is rearrangements or Point Mutations Faster. Synteny. Blocks and Chromosomes. Mouse Human. Chimp Human. Data Reading and Sliding Window. Human vs Chimp. Human vs Mouse. P Ferguson, L . Quek. , M . Metzner. , I Ahmed, C Garnett, S Jeffries, K . Piechocki. , R Danby, M . Raghavan. , A . Peniket. , M Griffiths, A Bacon, J Ward, K Wheatley, P Vyas, C Craddock. Introduction. >2500 cancer genomes: Overall . functional . impact. Slides freely . downloadable . from . Lectures.GersteinLab.org. . & “tweetable” . (via . @. markgerstein. ). . See last slide . for more info.. Changes in the genetic material. Mutations can occur in two different types of Cells:. 1. Somatic (body) cells. 2. Gamete (sex or germ) cells. Mutations in somatic cells. Usually result in killing that body cell only.. Growth Factor Receptor (EGFR) mutants and its Clinical Implications. . Jeonghee Cho. Samsung. . Genome Institute. Samsung Medical Center . Outline. Mechanistic insight of . cetuximab. -based EGFR targeted therapy . Point mutations. single base change . silent mutation. no amino acid change. redundancy in code. missense. change amino acid. Changes the final protien. nonsense. change to stop codon. Stopping prematurely . Given a mutation, identify its type. Predict how a mutation will affect a protein.. Mutations. Changes in genetic material (DNA). 2 main types of mutations. Point mutation- change in one or a few nucleotides (letters). Small-scale mutations. Missense mutations. Nonsense mutations. Silent mutations. Frameshift mutations. Large scale mutations. Causes. Mutagens. The results of mutation. Mutations. Genetic mutations are changes in the DNA sequence, caused by various mechanisms.. Conditional mutations. Point mutations. In . point mutations . the sequence of the DNA has been altered at a single position. Where this change consists of replacing one nucleotide by another, it is known as a . KEY CONCEPT:. . Mutations. are changes in genetic material.. VOCABULARY:. Mutation, point mutation, . frameshift. mutation, polyploidy. Mutations – extension from gene expression. . Changes in genotype. Human Cancer. DNA Oncogenic Viruses. Papillomaviridae/ Polyomaviridae.  . Human papilloma viruses. Cervical . carcinoma. Other . genital tract carcinoma. Anal,. . Vulval. /vaginal,. . Penile,. Esophageal. There are two basic types of mutations:. Gene mutations - mutations that produce changes in a single gene. Chromosomal mutations - mutations that produce changes in whole chromosomes. Gene mutations .