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Questions and Answers
What is the function of BRCA1 in relation to DNA repair?
Which of the following is a consequence of Wnt signaling pathway upregulation in FAP?
What is the function of TP53 in regulating cell cycle checkpoints?
What is the consequence of Rb phosphorylation by CCND1/CDK?
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What is the function of WT1 in embryonic development?
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What is the normal function of VHL in normoxia?
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What is the consequence of HIF1a protein upregulation in hypoxia?
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Which of the following is NOT a tumor associated with VHL disease?
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What is the function of APC in regulating the Wnt signaling pathway?
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Which of the following tumor suppressor genes is most commonly associated with ovarian cancer?
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What is the consequence of β-catenin accumulation in FAP due to APC mutations?
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Which of the following tumor suppressor genes is responsible for inducing apoptosis by increasing BAK/BAX?
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What is the consequence of Rb dephosphorylation in the regulation of cell cycle?
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Which of the following tumor suppressor genes is involved in urogenital development?
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What is the consequence of HIF1a protein upregulation in VHL disease?
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Which of the following tumor suppressor genes is associated with Li-Fraumeni syndrome?
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Which of the following is NOT a tumor associated with FAP due to APC mutations?
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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.
