caarcinogenesis
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Questions and Answers

Which option best describes a version of a gene?

  • Nucleotide
  • Chromosome
  • Gene
  • Allele (correct)

    • What term is used to describe tightly packed DNA?

  • Gene
  • Chromatid
  • Nucleotide
  • Chromosome (correct)

    • What is the basic building block of DNA?

  • Nucleotide (correct)
  • Chromatid
  • Chromosome
  • Gene

    • Which definition best matches the term that contains instructions to make a particular protein?

    <p>Gene</p> Signup and view all the answers

    Which option describes a structure that has two arms?

    <p>Chromosome</p> Signup and view all the answers

    How many chromosomes do most human cells have?

    <p>46</p> Signup and view all the answers

    How many chromatids does a human chromosome usually have following DNA replication?

    <p>2</p> Signup and view all the answers

    Cyclins are proteins that function primarily to regulate which aspect of the cell?

    <p>Cell cycle progression</p> Signup and view all the answers

    What primarily determines the fate of a cell in relation to apoptosis?

    <p>The relative expression of Bcl-2 family proteins</p> Signup and view all the answers

    What is a common cause of chromosomal translocations that can lead to cancer?

    <p>Erroneous repair of DNA double-strand breaks</p> Signup and view all the answers

    What is the significance of the Philadelphia chromosome in cancer?

    <p>It represents the most common translocation associated with chronic myelogenous leukemia</p> Signup and view all the answers

    Which of the following options describes a mechanism of genetic damage that can lead to tumorigenesis?

    <p>Chromosomal translocations</p> Signup and view all the answers

    Which of the following conditions can lead to the overexpression of Bcl-2, thereby evading apoptosis?

    <p>A chromosomal translocation</p> Signup and view all the answers

    What is the primary role of oncogenes in cancer cells?

    <p>To promote autonomous cell growth</p> Signup and view all the answers

    What mutation is most commonly associated with the BRAF gene in neoplasia?

    <p>BRAFV600E</p> Signup and view all the answers

    Which type of mutation involves the replacement of one nucleotide with another?

    <p>Point mutation</p> Signup and view all the answers

    Which of the following best describes the function of telomerase in cancer cells?

    <p>Lengthens telomeres</p> Signup and view all the answers

    What mechanism do RAS mutations most commonly exemplify?

    <p>Oncogene mutations</p> Signup and view all the answers

    How does MYC contribute to cell growth regulation?

    <p>Activates expression of growth-related genes</p> Signup and view all the answers

    What are the characteristics of oncoproteins compared to their normal counterparts?

    <p>They function without external growth signals</p> Signup and view all the answers

    Which statement about the MAPK pathway is correct?

    <p>It is altered in 78-88% of ameloblastomas.</p> Signup and view all the answers

    What is a fundamental role of transmembrane receptors in signal transduction pathways?

    <p>They bind extracellular signaling molecules.</p> Signup and view all the answers

    What characterizes driver mutations in the context of neoplasia?

    <p>They contribute significantly to malignant phenotype development.</p> Signup and view all the answers

    How do somatic mutations differ from germ cell mutations?

    <p>Somatic mutations primarily lead to cancers and congenital malformations.</p> Signup and view all the answers

    Which of the following accurately describes genomic alterations?

    <p>They can be inherited, environmentally induced, or random.</p> Signup and view all the answers

    What is the outcome when mutations occur in a single precursor cell?

    <p>They result in clonal expansion of that cell.</p> Signup and view all the answers

    What cellular functions can be modulated by signal transduction pathways?

    <p>Cell division, gene expression, and cell metabolism.</p> Signup and view all the answers

    What differentiates passenger mutations from driver mutations?

    <p>Passenger mutations do not contribute significantly to malignancy.</p> Signup and view all the answers

    Which of the following best describes the impact of mutations on gene expression?

    <p>Mutations permanently change gene expression patterns.</p> Signup and view all the answers

    What is a consequence of mutations in the TP53 tumor suppressor gene?

    <p>Inability to arrest cell division and initiate apoptosis.</p> Signup and view all the answers

    What type of DNA damage does Xeroderma pigmentosum primarily affect?

    <p>UV-induced cross-linking of pyrimidine bases.</p> Signup and view all the answers

    Which repair mechanism is primarily affected in individuals with Xeroderma pigmentosum?

    <p>Nucleotide excision repair (NER).</p> Signup and view all the answers

    What increases the risk of colorectal cancer in Lynch syndrome?

    <p>Loss of DNA mismatch repair function.</p> Signup and view all the answers

    How much does Xeroderma pigmentosum increase the risk of skin cancers?

    <p>1000-fold increase.</p> Signup and view all the answers

    Which of these genes is NOT associated with Lynch syndrome?

    <p>XPV.</p> Signup and view all the answers

    What is the primary function of mismatch repair (MMR) proteins?

    <p>Recognizing and repairing base pair insertions and deletions.</p> Signup and view all the answers

    Which types of cancer are individuals with Lynch syndrome at increased risk for?

    <p>Multiple types including endometrial and skin cancers.</p> Signup and view all the answers

    Which of the following is NOT a target of gene mutation in carcinogenesis?

    <p>Growth factors</p> Signup and view all the answers

    What role do alleles play in the individual characteristics of a person?

    <p>They contribute to each person’s unique physical features.</p> Signup and view all the answers

    How many pairs of chromosomes do humans typically have?

    <p>23 pairs</p> Signup and view all the answers

    Which statement about DNA structure is accurate?

    <p>DNA is composed of four chemical bases on a phosphate-deoxyribose backbone.</p> Signup and view all the answers

    Which of the following best describes a distinct feature of chromosomes during cell division?

    <p>Chromosomes consist of two identical copies during replication.</p> Signup and view all the answers

    What is the function of genes in human cells?

    <p>To serve as instructions for protein synthesis.</p> Signup and view all the answers

    What is an allele?

    <p>A variation of a single gene.</p> Signup and view all the answers

    Which portion of the chromosome is specifically targeted when discussing the address of a gene?

    <p>Chromosome arms</p> Signup and view all the answers

    What is the consequence of having microsatellite instability-high (MSI-H) in Lynch syndrome colorectal carcinoma?

    <p>Altered gene expression and functional protein shape</p> Signup and view all the answers

    Which process do BRCA1 and BRCA2 proteins primarily facilitate?

    <p>Homologous recombination of DNA breaks</p> Signup and view all the answers

    How is the role of proto-oncogenes best defined in the context of neoplasia?

    <p>Growth-promoting genes that can become oncogenic</p> Signup and view all the answers

    What type of mutation is commonly associated with the presence of microsatellite instability?

    <p>Frameshift mutations</p> Signup and view all the answers

    Which gene mutations account for a significant proportion of hereditary breast cancers?

    <p>BRCA1 and BRCA2</p> Signup and view all the answers

    What is a consequence of mutations in genes involved in DNA repair?

    <p>Accelerated acquisition of driver mutations</p> Signup and view all the answers

    Which DNA repair mechanism is particularly affected in individuals with Xeroderma pigmentosum?

    <p>Nucleotide excision repair</p> Signup and view all the answers

    How does the loss of mismatch repair (MMR) function contribute to cancer development in Lynch syndrome?

    <p>It increases the mutational load from replication errors.</p> Signup and view all the answers

    Which of the following correctly describes the genetic basis of Xeroderma pigmentosum?

    <p>It results from mutations in nucleotide excision repair genes.</p> Signup and view all the answers

    What is the role of TP53 in cellular responses to DNA damage?

    <p>Initiates apoptosis in irreversibly damaged cells.</p> Signup and view all the answers

    What is the median age of tumor development in individuals with Xeroderma pigmentosum?

    <p>8 years</p> Signup and view all the answers

    Which type of cancer is NOT primarily associated with Lynch syndrome?

    <p>Skin cancer</p> Signup and view all the answers

    What environmental factors contribute to the genomic instability observed in many cancers?

    <p>Exposure to sunlight and other mutagens.</p> Signup and view all the answers

    What characterizes a driver mutation in relation to tumor development?

    <p>It actively contributes to the development of a malignant phenotype.</p> Signup and view all the answers

    What is the role of signal transduction pathways in cellular regulation?

    <p>They can modulate various cellular functions including metabolism and gene expression.</p> Signup and view all the answers

    How do somatic mutations differ from germ cell mutations in their implications?

    <p>Somatic mutations are linked to cancer and congenital malformations, whereas germ cell mutations can be inherited.</p> Signup and view all the answers

    What describes the impact of genetic mutations on cellular processes?

    <p>Mutations may disrupt normal gene expression and cellular regulation.</p> Signup and view all the answers

    Which statement accurately describes the hereditary nature of mutations?

    <p>Germ cell mutations can lead to inheritable diseases while somatic mutations cannot.</p> Signup and view all the answers

    What is a consequence of mutations in genes involved in signal transduction pathways?

    <p>They can alter gene expression and induce signaling independent of external stimuli.</p> Signup and view all the answers

    What is the nature of genomic alterations observed during tumor progression?

    <p>They may continue to evolve and accumulate over time.</p> Signup and view all the answers

    What distinguishes passenger mutations from driver mutations in neoplasia?

    <p>Driver mutations are rarer but directly influence malignant characteristics, unlike passenger mutations.</p> Signup and view all the answers

    What is required for tumor development in the context of tumor suppressor genes?

    <p>Both alleles must be mutated</p> Signup and view all the answers

    Which tumor suppressor gene is associated with familial retinoblastoma syndrome?

    <p>RB</p> Signup and view all the answers

    In which syndrome do germline mutations in PTCH1 lead to a significant risk for basal cell carcinoma?

    <p>Nevoid basal cell carcinoma syndrome</p> Signup and view all the answers

    Which mechanism does APC primarily downregulate in relation to colorectal neoplasia?

    <p>Wnt/β-catenin signaling pathway</p> Signup and view all the answers

    How do germline mutations differ from somatic mutations?

    <p>Germline mutations can be passed to future generations.</p> Signup and view all the answers

    What role does the p53 protein encoded by the TP53 gene play in cellular processes?

    <p>Induces apoptosis if DNA repair fails</p> Signup and view all the answers

    What type of mutation is characterized by the deletion of a portion of the genome, often linked to meningiomas?

    <p>Gene deletion</p> Signup and view all the answers

    MDM2 acts as a negative regulator of which protein, potentially mimicking the effects of its mutation?

    <p>p53</p> Signup and view all the answers

    Which specific type of mutation in tumor suppressor genes can lead to familial adenomatous polyposis (FAP)?

    <p>Germline mutation in APC</p> Signup and view all the answers

    What is the typical developmental risk associated with having a germline mutation for tumor suppressor genes?

    <p>Markedly elevated risk for tumor development</p> Signup and view all the answers

    Which mechanism results in the amplification of DNA sequences, commonly noted in liposarcoma?

    <p>Gene amplification</p> Signup and view all the answers

    What genetic condition is characterized by a mutation in the 5q21-22 region, leading to multiple skin lesions and osteomas?

    <p>Gardner syndrome</p> Signup and view all the answers

    What is the main consequence of losing function in tumor suppressor genes?

    <p>Insensitivity to growth inhibition</p> Signup and view all the answers

    Study Notes

    Chromosomes, Genes, and Alleles

    • APC gene is located at 5q21 on a chromosome
    • Allele is a version of a gene
    • Chromosome is tightly packed DNA
    • Nucleotide is the building block of DNA
    • Gene contains instructions to make a protein
    • Chromosome has two arms
    • Most human cells have 46 chromosomes
    • A human chromosome usually has two chromatids

    Cell Cycle

    • The cell cycle is a series of events that take place in a cell as it prepares for division (grows) and then divides into two daughter cells.
    • G0 is the resting phase where the cell spends most of its time
    • Cyclins are proteins that turn on kinases
    • Kinases are enzymes called cyclin-dependent kinases (CDKs) that increase in activity in response to elevated cyclin levels
    • CDK inhibitors, which are chemicals, inhibit CDK function

    Signal Transduction Pathways

    • Proteins encoded by genes participate in signaling pathways
    • Chemical or physical signals are transmitted through a cell as a series of molecular events
    • Many genes that are mutated in neoplasia encode proteins that are part of signal transduction pathways
    • Transmembrane receptors bind extracellular signaling molecules
    • Signal transduction pathways modulate many different cellular functions

    From Gene to Signaling Pathway...to Gene

    • Mutations in genes that encode proteins participating in signal transduction pathways can change gene expression or activate cell signaling/division independent of external stimuli

    Neoplasia is Genetic

    • Carcinogenesis is a result of non-lethal genetic damage
    • Tumors are formed by clonal expansion of a single precursor cell that experienced genetic damage
    • Tumors are clonal
    • Genomic alterations may be inherited, arise from environmental influences, or occur stochastically
    • Driver alterations contribute to the development of a malignant phenotype
    • Passenger alterations are much more frequent than driver alterations but are not relevant to the development of a malignant phenotype
    • Carcinogenesis results from the step-wise accumulation of complementary driver mutations over time
    • Tumors continue to evolve genomically during outgrowth and progression

    Genetic Mutations

    • Genetic mutations are permanent changes in the DNA sequence
    • Mutations that arise in germ cells (egg, sperm) are transmitted to offspring and can give rise to inherited diseases
    • Mutations that arise in somatic cells are important in giving rise to cancers and some congenital malformations
    • Mutations interfere with gene expression

    Germ and Somatic Cells

    • Germ cells have 23 chromosomes

    Regulatory Genes and Cancer Causing Mutations

    • There are four classes of normal regulatory genes that are the main targets of cancer-causing mutations: proto-oncogenes, tumor suppressor genes, genes that regulate programmed cell death/apoptosis, and genes involved in DNA repair.

    Oncogenes

    • Oncogenes are mutated proto-oncogenes that promote autonomous cell growth in cancer cells.
    • Oncogenes are gain-of-function mutations
    • They encode mutant proteins called oncoproteins
    • Oncoproteins have gained function to promote cell growth independently of normal extracellular growth-promoting signals

    MAPK Pathway Alterations and BRAF Mutations

    • The MAPK (mitogen activated protein kinase) pathway is present in 78-88% of ameloblastomas
    • BRAF mutations are most common
    • BRAFV600E mutations account for 90% of all BRAF mutations seen in neoplasia
    • The BRAFV600E mutation results from BRAF c.1799T>A: Thymine (T) is replaced by adenine (A) at coding DNA sequence (nucleotide) 1799, which is a point mutation and activating mutation
    • The BRAF protein consists of 766 amino acids

    Oncogenic Proteins

    • Growth factors
    • Growth factor receptors
    • Proteins involved in the signaling cascade
    • Nuclear regulatory proteins
    • Cell cycle regulators

    RAS and MYC Mutations

    • RAS is the most commonly mutated oncogene
    • MYC is an oncogene that activates expression of many genes involved in cell growth
    • MYC can reprogram plain somatic cells into pluripotent stem cells
    • MYC upregulates telomerase in some contexts
    • MYC contributes to stem-cell like immortalization of tumor cells

    Telomerase

    • Telomerase is an enzyme that lengthens telomeres, which results in limitless replicative potential and contributes to 'cell immortality'

    Oncogene Description

    • Driver

    Evasion of Programmed Cell Death (Apoptosis)

    • Apoptosis is programmed cell death in response to pathologic conditions such as carcinogenic mutations
    • The Bcl-2 family consists of 25 pro-apoptotic or anti-apoptotic genes
    • Relative expression of Bcl-2 family proteins determines cell fate

    Follicular Lymphoma evades Cell Death

    • Follicular lymphoma has overexpression of Bcl-2 via a chromosomal translocation
    • Two-thirds of chromosomal translocations arise from erroneous repair of DNA double-strand breaks

    Philadelphia Chromosome

    • The Philadelphia chromosome is the most famous translocation, t(9;22), which is characteristic of chronic myelogenous leukemia

    Chromosomal Translocation

    • Chromosomal translocations are a "shortcut" to cancer
    • Mucoepidermoid carcinoma of the hard palate with (11;19) CRTC1-MAML2 translocation is associated with both CRTC1 and MAML2, which are transcription co-activators

    Common Mechanisms of Genetic Damage

    • Point mutations
    • Gene deletions
    • Gene amplifications
    • Chromosomal translocations

    Genomic Instability

    • Defects in genes involved in DNA repair are often the source of genomic instability
    • Genetic aberrations increase mutation rates which contribute to tumor progression
    • TP53 is a tumor suppressor gene that, when mutated, cannot arrest cell division to repair DNA damage or initiate apoptosis in irreversibly damaged cells
    • Humans are surrounded by mutagenic environmental agents like sunlight, radiation, and chemicals
    • Cancer is a rare outcome of these exposures due to:
      • Ability of normal cells to repair DNA damage
      • Apoptosis as a protective response
      • Normal surveillance mechanisms of the immune system

    Xeroderma Pigmentosum

    • Xeroderma pigmentosum is a cancer predisposition syndrome where individuals have an impaired ability to repair UV-induced DNA damage
    • UV radiation frequently causes abnormal cross-linking of pyrimidine bases
    • Normal, error-free DNA replication cannot occur with UV damage
    • UV-induced DNA damage is normally repaired by the nucleotide excision repair (NER) system
    • The NER system does not work properly in individuals with xeroderma pigmentosum
    • Xeroderma pigmentosum is an autosomal recessive syndrome caused by inherited mutations in genes that encode NER proteins
    • Individuals with xeroderma pigmentosum have a 1000-fold increased risk of skin cancers, a median age of tumor development of 8 years old, and an increased risk of squamous cell carcinoma of the lower lip and tip of tongue

    Hereditary Nonpolyposis Colon Cancer Syndrome (Lynch Syndrome)

    • During DNA replication, DNA mismatch repair (MMR) proteins act as "spell-checkers" to detect, excise, and repair defects
    • If the MMR protein's proofreading function is lost, genetic mutations are more likely to accumulate and a greater mutational load contributes to the accumulation of complementary driver mutations
    • MMR proteins are encoded by MSH2, MLH1, MSH6, PMS2, EPCAM genes
    • Germline mutations in these genes:
      • Increase risk of colorectal cancer
      • Increase the risk of other cancers (endometrium, stomach, brain, skin, etc.)

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    Description

    This quiz explores the fundamental concepts of chromosomes, genes, and the cell cycle. You'll learn about the structure of DNA, the role of alleles and genes, and the phases of the cell cycle, including important proteins like cyclins and kinases. Test your understanding of these key biological processes!

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