https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP73 using the above linke, Briefly describe the most common mutation found in this gene. Include details about the type of mutation, and the predicted effect. . where does the mutation occur, what bases are changed; does the mutation change the protein sequence, and if so what would the likely biologics consequences be?
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https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP73
using the above linke, Briefly describe the most common mutation found in this gene. Include details about the type of mutation, and the predicted effect. . where does the mutation occur, what bases are changed; does the mutation change the protein sequence, and if so what would the likely biologics consequences be?
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- Glioblastoma multiforme (GBM) is the most commonand aggressive form of brain cancer in humans.Without any treatment, the mean survival rate is aboutthree months. Even with standard treatments such assurgical resection, radiation, and chemotherapy, themean survival rate is between seven and 14 months.GBM tumors differ in their spectrum of geneticchanges, and these changes may influence the effectof particular treatments. Answer the following questions about the relevance of particular mutations toparticular treatments and outcomes.a. Biopsies of about 20% of GBMs show the expression of a certain mutational variant of the EGFR(epidermal growth factor receptor) protein calledEGFRvIII. The same cancerous cells of theseGBMs also show the expression of normal, wildtype EGFR. Is the gene encoding EGFR a tumorsuppressor gene or a proto-oncogene?b. It is very difficult to induce cells expressingEGFRvIII to undergo apoptosis. If you werea radiologist treating a patient with a GBMthat expresses…What is the definition of Driver Mutations & Passenger Mutations? Also describe why each are informative in characterizing tumors.What common mutation occurs in many human cancers? Explain how it can have this effect.
- Define a Point mutation and give an example. What is sickle cell anemia and what causes it. What is nondisjunction? How does nondisjunction cause disorders? NUMER YOUR ANSWERSTwo types of mutations discussed in this chapter are (1) nucleotide changes and (2) unstable genome regions that undergo dynamic changes. Describe each type of mutation.Two genes associated with breast cancer, BRCA1 and BRCA2, were discovered in 1994 and 1995, respectively, and shortly thereafter, were patented by Myriad Genetics, a company based in Utah. Under the patents, testing for mutations in these genes could only be performed by Myriad, at costs from 300 to 3,000. Myriad also patented the process of analyzing the results of such tests, preventing anyone who obtains the sequence of their BRCA genes by other means (which itself would probably be patent infringement) from interpreting the information. The idea that genes can be patented has been a contentious issue from the beginning. Patents are not granted for products of nature, meaning that genes inside the body are not patentable, but biotech companies successfully argued that by removing a gene from the human body, purifying it, and then obtaining its DNA sequence, they created something not found in nature, and which is therefore a patentable invention. The U.S. Patent Office found the argument persuasive, but opponents argue that genes are parts of our bodies and can be identified but not invented. Biotech companies argue that without the protection offered by patents, they would have no incentive for research and development of diagnostic tests. In Europe, patents for BRCA1 and BRCA2 were revoked in 2004 because they did not meet the standards for a patent. After more than a decade of legal disputes, the patents were partially restored in 2008 on a very restricted basis. In the United States, a lawsuit, focused on the patents for the BRCA genes, was filed in May 2009. The suit challenges the basic idea that genes are patentable. In November 2009, the judge ruled that the lawsuit can proceed, and the case is moving forward. In March 2010, a federal court invalidated Myriad Genetics patent on these genes. In August 2011, the U.S. Court of Appeals reversed the lower courts decision and ruled that gene sequences isolated from cells are not a product of nature and are therefore patentable. The case went to the U.S. Supreme Court, which ordered the appeals court to reconsider the case. The Federal Appeals Court did not change its decision, and the case once again, went to the U.S. Supreme Court. A unanimous decision in June 2013 invalidated Myriads patents on the basis that isolating a gene from nature does not make it patentable. This is a landmark decision on gene patenting with widespread ramifications for the biotechnoloogy industry. Will this decision reduce the incentives for companies to invest in new diagnostic tests that would be used by cancer victims or those with serious genetic disorders?
- Silent mutations that occur in DNA are quite common in living cells and usually involve no effects onphenotype. In not more than 2 pages (using 1.5 line space of Arial or Times New Roman fonts) provideanswers for the following questions? Provide one example of a clinical implication of a “silent mutation” that proven to have an effect onthe phenotype and provide a brief description of its molecular characteristics?How to identify all the somatic mutationswithin tumors ?What percentage of cells in an organ or a tissue need toexpress a therapeutic gene to alleviate the effects of agenetic disorder?