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The Catalogue Of Somatic Mutations Essay

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The Catalogue of Somatic Mutations in Cancer (COSMIC) is a comprehensive analysis of known mutational signatures across 40 distinct cancers in humans created by the mass collection of published peer-reviewed scientific journal articles (“Signatures of Mutational Process in Human Cancer”, 2016). Compared to nonsmokers, smokers had higher rates of mutational signatures 2, 4, 5, 13 and 16. Signature 4 is associated with lung, head, neck, and liver cancer and is characterized by C to A mutation substitutions. This signature was found in cancer tissue that had direct CS exposure, except for the liver (which is not directly exposed), however the signature was still elevated in comparison to nonsmokers (Alexandrov, et al., 2016). Signatures 2 and 13 are often associated with cervical and bladder cancers and are usually seen together. These signatures cause C to T and C to G mutations, respectively. Both signatures are also associated with the activation of APOBEC deaminases, likely due in response to inflammation in the presence of tobacco smoke (Alexandrov, et al., 2016). Signature 5 is present in all cancers, even those unrelated to tobacco, and is typically associated with aging and T to C mutations. It is unclear what directly causes the appearance of this signature, however levels were elevated in comparison to nonsmokers (Ehrenberg, 2016). Signature 16 is seen in liver cancer tissues and is characterized by T to C substitutions. Again, there were elevated levels of

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