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33 Cards in this Set
- Front
- Back
Mutations in genes controlling proliferation and death are responsible for ________.
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Cancer
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DNA primase
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synthesizes an RNA primer on a parental strand.
A single primer is needed for the leading (continuous) strand. A primer must be synthesized for each Okazaki fragment (lagging strand). A new primer every 1000-2000 nucleotides for prokaryotes and 130-200 nucleotides for eukaryotes. |
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Originate from normally occuring genes involved in control of normal cell growth and maturation; a gain of function mutation in one of these controller genes results in this:
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Oncogenes
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Ocogenes are activated by which type of mutation?
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Gain of function mutation- they enhance malignant transformations by mechanisms such as stimulating proliferation, increasing blood supply to the tumor and inhibiting apoptosis.
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Ocogenes have a ______ effect at the cellular level. Therefore only a single copy of a mutation is sufficient to change the phenotype of a cell from normal to malignant:
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Dominant Effect
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This autosomal dominant disease is characterized by a high incidence of medullary thyroid carcinoma and frequently pheochromocytoma and/or parathyroid adenomas
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Multiple endocrine neoplasia type 2 (MEN2)
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This disease results from a mutation in the RET oncogene which encodes receptor tyrosine kinase that serves as a ligand receptor
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MEN2
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This disease is associated with a loss of function mutation of RET
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Hirschprung Disease
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This disease is caused by a RET mutation that leads to a gain of function- causes constitutive activation of a tyrosine kinase
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MEN2
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This disease is caused by a translocation that leads to fusion of the protoncogene ABL-BCR
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CML
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This disease is associated with the Philadelphia chromosome:
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CML- 9:22 translocation
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This translocation allows synthesis of a chimeric protein with increases tyrosine kinase activity that leads to cancer:
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9:22 translocation- philadelphia chromosome
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This cancer family syndrome is characterized by different types of cancer including bone and soft tissue sarcoma, breast cancer, brain tumor, leukemia and adrenocortical carcinoma
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Li-Fraumeni Syndrome
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This autosomal dominant mutation in the tumor supressor gene p53 occurs in the germline in the majority of affected families
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Li-Fraumeni Syndrome
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DNA binding protein that is an important component of the cellular response to DNA damage.
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p53
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How does loss of p53 function lead to multiple cancers seen in Li-Fraumeni Syndrome?
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Mutation in p53 allows cells with damaged DNA to survive and divide thereby propogating potentially oncogenic mutations
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Li-Fraumeni Syndrome is caused by a mutation in which tumor supressor gene?
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p53
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Li-Fraumeni Syndrome is associated with which cancers?
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Bone and soft tissue sarcoma, breast cancer, brain tumor, leukemia, and adrenalcortical carcinoma.
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This autosomal dominant disease is caused by a germline p53 mutation that leads to sarcoma:
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Li-Fraumeni Syndrome
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This disease is caused by an autosomal dominant germline mutation that leads to development of hundreds to thousands of colorectal adenomas in early adulthood.
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Familial Adenomatous Polyposis (FAP)
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This disease is caused by a mutation in the APC gene which has several roles including control of cell adhesion and interactions with the cytoskeleton and B-Catenin which is involved in apoptosis in normal cells.
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Familial Adenomatous Polyposis
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This autosomal dominant form of colorectal cancer is not preceded by multiple adenomatous polyps
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Lynch Syndrome (HNPCC)
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This disease is characterized by early onset with an increased risk for tumors occuring simultaneously in more than one location in the colon and second primary tumors at a later time:
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Lynch Syndrome (HNPCC)
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This disease is characterized by increased risk for cancer of the colon, rectum, as well as endometrial cancer, ovarian, gastric, hepatobiliary, small bowel, urinary tract and brain.
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Lynch Syndrome (HNPCC)
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This disease results from mutations in DNA mismatch repair genes that are responsible for identifying and repairing replication errors following DNA synthesis - leading to base pairs in which DNA is not complementary
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Lynch Syndrome (HNPCC)
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HNPCC (Lynch Syndrome) is caused by what?
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Defects in mismatch repair genes - loss of DNA mismatch repair
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These genes encode protein products that recognize and correct errors that arise when DNA is replicated
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Mismatch repair genes
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In this disease, an inactivating germline mutation occurs, loss of the wildtype allele results in a hypermutable cell that is susceptible to an accumulation of mutations at a greatly accelerated rate, which can lead to clonal expansion and development of neoplasms at an excellerated rate
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HNPCC
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High amounts of ______ _____ are found in nearly all colorectal tumors that arise with Lynch Syndrome.
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Microsatellite instability- caused by defective DNA mismatch repair
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Besides breast and ovarian cancer, what cancers are a person with a BRCA1-2 mutation also at risk for?
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Male breast cancer, prostate cancer, pancreatic cancer, and melanoma.
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90% of hereditary ovarian cancers are due to a mutation in what?
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BRCA 1
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This chromosomal instability syndrome causes pancytopenia and AML-
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Fanconi Anemia1
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This autosomal recessive disease causes radial defects, growth retardation, skin hyperpigementation, hearing loss, and bone marrow supression.
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Fanconi Anemia
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