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People with a genetic condition known as Li-Fraumeni syndromeinherit one mutant copy of p53 gene. These people haverisk ofdevloping cancerssuch as breast cancer, leukemias, bone cancers,adrenocorticalrelated gene can give rise to such a diverse range oftumors. Explain how mutations in one cancer related gene can giverise to such a divere range of tumors

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Casey Durgan
Casey DurganLv2
28 Sep 2019
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Related questions

Problem 7. A patient with Li-Fraumeni syndrome has a tumor with a mutation on only one allele of p53. Explain why this is not an example of loss of heterozygosity.(8pts)

Problem 8. A tumor virus produces a protein which inhibits p53. Is this viral protein an oncogene or a tumor suppressor? Why? (10pts)

Problem 9. Why might a tumor with mutations in p53 be resistant to radiation therapy? (8pts)

2

Problem 10. Create a molecular diagram using this information: Double stranded DNA breaks activate ATM. ATM phosphorylates p53. When p53 is phosphorylated, it can travel to the nucleus and act as a transcription factor-to increase the expression of a protein called BAX. BAX is a protein that turns on apoptosis. Your answer should contain the components of this pathway (e.g. double stranded breaks, ATM, p53, BAX, Apoptosis, Cancer) and activate or inhibit signs (you can use words if you dont want to draw symbols). (16pts)

Jeff (age 38) and John (Jeff's 18 year old son) are seeking theadvice of a genetic counselor after a family member was recentlydiagnosed with Huntington disease, a progressive and fatal nervoussystem disorder that manifests itself when individuals aregenerally between age 30 and age 50. If Jeff has inherited the genefor Huntington disease, then there is a 50% probability that he haspassed along the gene to Jason. Jeff shows no symptoms of thedisease and he prefers not to know whether or not he has the gene.However, John, who recently became engaged to his girlfriend wantsto know whether or not he possesses the gene for Huntingtondisease. If John is found to carry the gene, it means that Jeffalso has the gene. Jeff and John are very close, and John knowsthat he would be unable to conceal his test results from hisfather.

Discussion Questions:

1. Do you believe that John has a right to know whether or nothe carries the Huntington's disease gene despite Jeff's wishes toremain uninformed about his own status? Instead of just stating'yes' or 'no,' be sure to explain your answer.
2. Does Jeff have the right not to know his status?
3. Would you want to know or not know? Why or why not?
4. What are the signs/symptoms and complications of Huntington'sdisease?

As always, post a minimum of three times. Answer the questionsin your first posting and respond to your classmates in your otherpostings.

Related Information: The process of testing for suspectedgenetic defects before administering treatment is called geneticdiagnosis by genetic testing. In some cases in which a geneticdisease is present in an individual’s family, family members may beadvised to undergo genetic testing. For example, mutations in theBRCA genes may increase the likelihood of developing breast andovarian cancers in women and some other cancers in women and men. Awoman with breast cancer can be screened for these mutations. Ifone of the highrisk mutations is found, her female relatives mayalso wish to be screened for that particular mutation, or simply bemore vigilant for the occurrence of cancers. Genetic testing isalso offered for fetuses (or embryos with in vitro fertilization)to determine the presence or absence of disease-causing genes infamilies with specific debilitating diseases

B__1) Driver mutations provide a growth advantage to a tumor cell. Which type of mutation is known to accumulate in cancer cells but has no direct contribution to the cancer phenotype?

A) alteration mutations B) passenger mutations C) carrier mutations

D) indirect mutations E) insignificant mutations

_A__2) Which of the following general mechanisms appear to be involved in the formation of cancer cells?

A) genomic instability, DNA repair failure, chromatin modifications

B) inversions, operon formation, methylation

C) RNA failure, DNA phosphorylation, phosphorylation of adenyl cyclase

D) transdetermination, mutation, allosteric interactions

E) suppression, tabulation, projection

_A__3) What is the name of the protein that combines with cyclins to exert local control of the cell cycle?

A) cyclin-dependent kinase B) phosphatase C) ATPase D) integrase E) hexokinase

_D__4) A protein functions as a cell-cycle regulator that causes cell death (apoptosis) to a damaged cell. What is the symbol given to this protein?

A) p34 B) p102 C) cyclin D) p53 E) phosphokinase

_A__5) The retinoblastoma protein (pRB), like p53, serves as a(n) ________ in regulating the cell cycle.

A) tumor suppressor B) tumor enhancer C) up regulator D) oncogene E) pseudooncogene

_C__6) Mutant versions of genes that are normally involved in promoting the cell cycle are known as ________.

A) tumor suppressors B) proto-oncogenes C) oncogenes D) malignant genes E) attenuators

_B__7) In sporadic cases of retinoblastoma, how many gene mutations are thought to be necessary in the same cell for a tumor to develop?

A) one B) two C) four D) six

__D_8) What is the name of the protein that appears to regulate the entry of cells into an S phase? This protein is also known as the "guardian of the genome."

A) p34 B) p102 C) cyclin D) p53 E) phosphokinase

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