Podcast
Questions and Answers
What is the function of BRCA1 in relation to DNA repair?
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?
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 function of TP53 in regulating cell cycle checkpoints?
What is the consequence of Rb phosphorylation by CCND1/CDK?
What is the consequence of Rb phosphorylation by CCND1/CDK?
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What is the function of WT1 in embryonic development?
What is the function of WT1 in embryonic development?
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What is the normal function of VHL in normoxia?
What is the normal function of VHL in normoxia?
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What is the consequence of HIF1a protein upregulation in hypoxia?
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?
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?
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?
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?
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?
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?
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?
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?
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?
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?
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.
