How Neanderthal are you Tracing our genetic ancestry Natural History Museum













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In this short tutorial, i have described how defects in DNA repair results in cancer and various DNA repair genes which are involved in the repair of damaged DNA. • ***Follow me**** • http://ilovepathology.com/ • Twitter :   / vijaypatho   •   / ilovepathology2   • Facebook:   / ilovepathology   • • Defects in DNA repair Cancer • DNA damage is ubiquitous • DNA damage is not the same as mutation though it can lead to mutation • DNA damage is a chemical alteration ( can be corrected) • Mutation is a change in the sequence of base pairs ( cannot be corrected ) • If any kind of DNA damage is likely to lead to a mutation, we call it genotoxic • There are Mechanisms to repair the types of DNA damage • The Effective DNA repair is the backbone of cancer free survival • Genome instability is an Important hallmark of cancer • INSTABILITY: could be point mutations, trinucleotide repeat expansions and contractions, gene duplications, deletions, and inversions, to large-scale chromosome changes including translocations and whole chromosome gains and losses. • DNA repair systems play critical roles in genome stabilization • Defects in DNA repair pathways contribute to specific instabilities • Erroneous DNA repair leads to mutations or chromosomal aberrations • The Genes for DNA repair • Individuals with inherited defects in DNA repair genes are at increased risk of developing cancer. • Base Excision Pathway (BER):MDB4,Colorectal Ovary Multiple myeloma • NER Pathway:XPC, Bladder Skin Cancer • Direct reversal of Damage:MGMT,Colon Gastric Glioblastoma • Mismatch excision repair (MMR):MSH 6Colorectal • Non Homologous End joining: XRCC5, lung • Homologous recombination: BRCA 1,Breast Ovary Gastric • ~-~~-~~~-~~-~ • Please watch: WARBURG EFFECT: Hallmark of CANCER. What, Why How? •    • NEOPLASIA 6: WARBURG EFFECT: Hallmark...   • ~-~~-~~~-~~-~

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