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Tumor Suppressor Genes and Cancer
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Tumor Suppressor Genes and Cancer

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Questions and Answers

What is the function of BRCA1 in relation to DNA repair?

  • Mismatch repair
  • Double-strand DNA break repair by non-homologous end joining
  • Homologous repair of double-strand DNA breaks (correct)
  • Base excision repair
  • Which of the following is a consequence of Wnt signaling pathway upregulation in FAP?

  • Decreased cell cycle progression
  • Induction of apoptosis
  • Cell cycle arrest at G1
  • Increased cell cycle progression (correct)
  • What is the function of TP53 in regulating cell cycle checkpoints?

  • Inducing apoptosis by decreasing BAK/BAX
  • Arresting cell cycle at G2/M
  • Releasing E2F to promote cell cycle progression
  • Inducing apoptosis by increasing BAK/BAX (correct)
  • What is the consequence of Rb phosphorylation by CCND1/CDK?

    <p>Release of E2F to promote cell cycle progression</p> Signup and view all the answers

    What is the function of WT1 in embryonic development?

    <p>Urogenital development</p> Signup and view all the answers

    What is the normal function of VHL in normoxia?

    <p>To degrade Hypoxia-inducible factor 1 protein</p> Signup and view all the answers

    What is the consequence of HIF1a protein upregulation in hypoxia?

    <p>Upregulation of VEGF and GLUT1</p> Signup and view all the answers

    Which of the following is NOT a tumor associated with VHL disease?

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

    What is the function of APC in regulating the Wnt signaling pathway?

    <p>Degradating β-catenin</p> Signup and view all the answers

    Which of the following tumor suppressor genes is most commonly associated with ovarian cancer?

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

    What is the consequence of β-catenin accumulation in FAP due to APC mutations?

    <p>Upregulation of Wnt signaling pathway</p> Signup and view all the answers

    Which of the following tumor suppressor genes is responsible for inducing apoptosis by increasing BAK/BAX?

    <p>TP53</p> Signup and view all the answers

    What is the consequence of Rb dephosphorylation in the regulation of cell cycle?

    <p>Arrest of cell cycle at G1/S</p> Signup and view all the answers

    Which of the following tumor suppressor genes is involved in urogenital development?

    <p>WT1</p> Signup and view all the answers

    What is the consequence of HIF1a protein upregulation in VHL disease?

    <p>Upregulation of glucose intake</p> Signup and view all the answers

    Which of the following tumor suppressor genes is associated with Li-Fraumeni syndrome?

    <p>TP53</p> Signup and view all the answers

    Which of the following is NOT a tumor associated with FAP due to APC mutations?

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

    Study Notes

    Tumor Suppressor Genes

    • BRCA1/2: DNA repair enzymes involved in Homologous repair of double-strand DNA breaks
    • BRCA1: more commonly associated with Ovarian Cancer than BRCA2
    • BRCA2: higher risk of Breast Cancer in males than BRCA1
    • Examples of associated cancers: Breast Cancer, Ovarian Cancer

    APC/β-catenin

    • APC: regulates Wnt signaling pathway by β-catenin degradation
    • β-catenin: increases Wnt signaling pathway, leading to increased cell cycle and proliferation
    • In Familial Adenomatous Polyposis (FAP), both APC alleles are lost, leading to increased β-catenin and subsequent cell cycle progression
    • Examples of associated cancers: FAP, Colorectal Cancer, Pancreatic Cancer

    TP53

    • P53 protein: regulates cell-cycle checkpoint and induces apoptosis by increasing BAK/BAX
    • Apoptosis: induced by increasing BAK/BAX
    • Cell cycle arrest: at G1 phase by increasing p21, which inhibits CCND1/CDK, leading to Rb-E2F and no cell cycle progression
    • Examples of associated cancers: Li-Fraumeni syndrome, many cancers

    RB

    • RB protein: regulates cell-cycle checkpoint and arrests cell cycle at G1/S phase
    • Cell cycle arrest: holding E2F and preventing cell cycle progression
    • Cell cycle progression: released E2F, allowing cell cycle progression when phosphorylated by CCND1/CDK
    • Examples of associated cancers: Familial Retinoblastoma, Sporadic Retinoblastoma, Osteosarcoma

    WT1

    • WT1: transcription factor involved in urogenital development
    • Example of associated cancer: Wilms tumor (Nephroblastoma)

    VHL

    • VHL: ubiquitin ligase component involved in normoxia and hypoxia regulation
    • Normoxia: degrades Hypoxia-inducible factor 1 protein, preventing cell growth
    • Hypoxia: inhibits ubiquitin ligase, leading to increased Hypoxia-inducible factor 1 protein and cell growth
    • HIF1a protein products: include VEGF, GLUT1, TGF-α, and EPO, promoting angiogenesis, glucose intake, cell proliferation, and increased RBCs
    • Examples of associated cancers: VHL disease (chromosome 3), Hemangioblastoma, Renal cell Cancer (bilateral), Pheochromocytoma

    Tumor Suppressor Genes

    • BRCA1/2: DNA repair enzymes involved in Homologous repair of double-strand DNA breaks
    • BRCA1: more commonly associated with Ovarian Cancer than BRCA2
    • BRCA2: higher risk of Breast Cancer in males than BRCA1
    • Examples of associated cancers: Breast Cancer, Ovarian Cancer

    APC/β-catenin

    • APC: regulates Wnt signaling pathway by β-catenin degradation
    • β-catenin: increases Wnt signaling pathway, leading to increased cell cycle and proliferation
    • In Familial Adenomatous Polyposis (FAP), both APC alleles are lost, leading to increased β-catenin and subsequent cell cycle progression
    • Examples of associated cancers: FAP, Colorectal Cancer, Pancreatic Cancer

    TP53

    • P53 protein: regulates cell-cycle checkpoint and induces apoptosis by increasing BAK/BAX
    • Apoptosis: induced by increasing BAK/BAX
    • Cell cycle arrest: at G1 phase by increasing p21, which inhibits CCND1/CDK, leading to Rb-E2F and no cell cycle progression
    • Examples of associated cancers: Li-Fraumeni syndrome, many cancers

    RB

    • RB protein: regulates cell-cycle checkpoint and arrests cell cycle at G1/S phase
    • Cell cycle arrest: holding E2F and preventing cell cycle progression
    • Cell cycle progression: released E2F, allowing cell cycle progression when phosphorylated by CCND1/CDK
    • Examples of associated cancers: Familial Retinoblastoma, Sporadic Retinoblastoma, Osteosarcoma

    WT1

    • WT1: transcription factor involved in urogenital development
    • Example of associated cancer: Wilms tumor (Nephroblastoma)

    VHL

    • VHL: ubiquitin ligase component involved in normoxia and hypoxia regulation
    • Normoxia: degrades Hypoxia-inducible factor 1 protein, preventing cell growth
    • Hypoxia: inhibits ubiquitin ligase, leading to increased Hypoxia-inducible factor 1 protein and cell growth
    • HIF1a protein products: include VEGF, GLUT1, TGF-α, and EPO, promoting angiogenesis, glucose intake, cell proliferation, and increased RBCs
    • Examples of associated cancers: VHL disease (chromosome 3), Hemangioblastoma, Renal cell Cancer (bilateral), Pheochromocytoma

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    Description

    This quiz covers the role of tumor suppressor genes in cancer, specifically BRCA1/2 and APC/β-catenin. It explains their functions, mutations, and associated cancers.

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