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.
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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
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Please watch: "WARBURG EFFECT: Hallmark of CANCER. What, Why & How?"
• NEOPLASIA 6: WARBURG E...
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