Podcast
Questions and Answers
What is an example of a chromosomal rearrangement?
What is an example of a chromosomal rearrangement?
- Gene deletion of EGFR
- Philadelphia chromosome BCR/ABL (correct)
- Gene amplification of MDM2
- Single nucleotide mutation in P53
Which mutation type involves an increase in the number of DNA copies?
Which mutation type involves an increase in the number of DNA copies?
- Gene amplifications (correct)
- Gene deletions
- Splicing mutations
- Single nucleotide mutations
How does the RB1 gene typically function in cellular regulation?
How does the RB1 gene typically function in cellular regulation?
- It inhibits cell division. (correct)
- It rearranges chromosomes.
- It promotes cell division.
- It amplifies gene expression.
Which of the following mutations are considered splicing mutations?
Which of the following mutations are considered splicing mutations?
Which gene is commonly associated with single nucleotide mutations at critical sites?
Which gene is commonly associated with single nucleotide mutations at critical sites?
What type of mutation involves the removal of a specific amino acid domain?
What type of mutation involves the removal of a specific amino acid domain?
Which of the following is NOT a type of regulation mentioned?
Which of the following is NOT a type of regulation mentioned?
What is the consequence of the RB1 gene no longer being functional?
What is the consequence of the RB1 gene no longer being functional?
What are the main types of mutations that can lead to cancer?
What are the main types of mutations that can lead to cancer?
Which of the following proteins are involved in the regulation of cell cycle progression?
Which of the following proteins are involved in the regulation of cell cycle progression?
What kind of gene is RB1?
What kind of gene is RB1?
Mutations in the RB1 gene can lead to retinoblastoma, a type of eye cancer.
Mutations in the RB1 gene can lead to retinoblastoma, a type of eye cancer.
What is the function of INK4?
What is the function of INK4?
Mutations in the TP53 gene are found in over 70% of human cancers.
Mutations in the TP53 gene are found in over 70% of human cancers.
What are some of the common "hotspot" residues found in TP53 mutations?
What are some of the common "hotspot" residues found in TP53 mutations?
Which of the following are examples of gene dysregulation?
Which of the following are examples of gene dysregulation?
What are the two main types of genes that are commonly dysregulated in cancer?
What are the two main types of genes that are commonly dysregulated in cancer?
Mutations in proto-oncogenes are always loss-of-function mutations.
Mutations in proto-oncogenes are always loss-of-function mutations.
Mutations in tumor suppressor genes are often loss-of-function mutations.
Mutations in tumor suppressor genes are often loss-of-function mutations.
DNA is packaged into chromatin.
DNA is packaged into chromatin.
What is the function of histones?
What is the function of histones?
The Philadelphia chromosome is a reciprocal translocation.
The Philadelphia chromosome is a reciprocal translocation.
Which virus is associated with cervical cancer?
Which virus is associated with cervical cancer?
What type of cancer is primarily linked to asbestos exposure?
What type of cancer is primarily linked to asbestos exposure?
Which natural product is known to potentially cause liver cancer?
Which natural product is known to potentially cause liver cancer?
Which of the following is a medical mutagen that can lead to various cancers?
Which of the following is a medical mutagen that can lead to various cancers?
Which of the following cancers is most likely linked to occupational exposure to benzene?
Which of the following cancers is most likely linked to occupational exposure to benzene?
What is the primary cancer associated with human papillomavirus (HPV)?
What is the primary cancer associated with human papillomavirus (HPV)?
What type of cancer can Aflatoxin exposure increase the risk of?
What type of cancer can Aflatoxin exposure increase the risk of?
Which atmospheric particles are linked to various health risks including cancer?
Which atmospheric particles are linked to various health risks including cancer?
Flashcards
Splicing mutations
Splicing mutations
Changes in how genes are cut and pasted together before they become proteins.
Gene deletions
Gene deletions
Parts of a gene are removed, losing genetic information.
Chromosome rearrangements
Chromosome rearrangements
Pieces of chromosomes switch places, altering their structure and often gene function.
Gene amplifications
Gene amplifications
More copies of a gene are made, often leading to too much of the protein it codes for.
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Single nucleotide mutations
Single nucleotide mutations
A single letter (base) in the DNA sequence is changed.
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RB1
RB1
A gene that suppresses tumors by controlling cell growth. When mutated, cells can grow uncontrollably.
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Virus
Virus
A tiny infectious agent that can only reproduce inside a living cell.
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P53
P53
Gene crucial for preventing tumor formation. Mutations can lead to cancer.
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EGFR
EGFR
A gene that regulates cell growth, involved in some cancers, including lung cancer.
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Hepatitis B virus (HBV)
Hepatitis B virus (HBV)
A virus that infects the liver and can cause chronic liver disease and liver cancer.
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Hepatitis C virus (HCV)
Hepatitis C virus (HCV)
A virus that infects the liver and can cause chronic liver disease and liver cancer.
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Human papillomavirus (HPV)
Human papillomavirus (HPV)
A group of viruses that can cause cervical cancer and other cancers.
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Epstein-Barr virus (EBV)
Epstein-Barr virus (EBV)
A virus that can cause nasopharyngeal cancer, Burkitt lymphoma, and Hodgkin lymphoma.
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Environmental mutagens
Environmental mutagens
Substances in the environment that can damage DNA and increase the risk of cancer.
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Occupational chemicals
Occupational chemicals
Chemicals found in workplaces that can increase the risk of cancer.
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Benzenes
Benzenes
A type of chemical found in some workplaces that can increase the risk of leukemia.
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Aromatic amines
Aromatic amines
Chemicals that can increase the risk of bladder cancer.
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Asbestos, carbon nanotubes
Asbestos, carbon nanotubes
Materials that can increase risk of mesothelioma, a type of cancer that affects the lining of the lungs and chest cavity.
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Natural products
Natural products
Substances found in nature that can increase the risk of cancer.
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Aflatoxin
Aflatoxin
A toxin produced by fungi found in crops, especially maize (corn), that can cause liver cancer.
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Herbal products (e.g., Aristolochia)
Herbal products (e.g., Aristolochia)
Certain herbal products, like Aristolochia, can contain chemicals that increase the risk of cancer in the upper urinary tract and bladder.
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Medical mutagens
Medical mutagens
Substances used in medical treatments that can damage DNA and increase the risk of cancer.
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Radiotherapy
Radiotherapy
A type of medical treatment using radiation to destroy cancer cells, but which can also damage healthy cells and increase the risk of other cancers.
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Chemotherapy
Chemotherapy
A type of medical treatment using drugs to kill cancer cells, but which can also damage healthy cells and increase the risk of other cancers.
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Atmospheric particles (PM10)
Atmospheric particles (PM10)
Tiny particles in the air that can be inhaled and increase the risk of lung cancer and other respiratory problems.
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How many types of cancer can HPV cause?
How many types of cancer can HPV cause?
HPV can cause several types of cancer, but cervical cancer is the most common.
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What kind of cancer is related to exposure to asbestos?
What kind of cancer is related to exposure to asbestos?
Exposure to asbestos can increase the risk of mesothelioma.
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What cancer is associated with aflatoxin?
What cancer is associated with aflatoxin?
Aflatoxin, a toxin found in some crops, is linked to liver cancer.
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What type of cancer is linked to exposure to aromatic amines?
What type of cancer is linked to exposure to aromatic amines?
Exposure to aromatic amines can increase the risk of bladder cancer.
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What cancer is linked to excessive use of Aristolochia?
What cancer is linked to excessive use of Aristolochia?
Aristolochia, a plant used in some herbal products, is linked to cancer of the upper urinary tract and bladder.
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What are the main types of medical mutagens?
What are the main types of medical mutagens?
The main medical mutagens are radiotherapy and chemotherapy.
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What are the most common types of cancers caused by viruses?
What are the most common types of cancers caused by viruses?
The most common cancers caused by viruses are liver cancer (HBV and HCV), cervical cancer (HPV), and nasopharyngeal cancer, Burkitt lymphoma, and Hodgkin lymphoma (EBV).
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Hepatitis B Virus
Hepatitis B Virus
A virus that can cause chronic liver disease and liver cancer.
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Hepatitis C Virus
Hepatitis C Virus
A virus that can cause chronic liver disease and liver cancer.
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Human Papillomavirus
Human Papillomavirus
A virus that can cause cervical cancer, among other cancers.
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Epstein-Barr Virus
Epstein-Barr Virus
A virus that can cause nasopharyngeal cancer, Burkitt lymphoma, and Hodgkin lymphoma.
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Asbestos
Asbestos
A material that can increase the risk of mesothelioma, a type of cancer affecting the lining of the lungs and chest cavity.
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Aristolochia
Aristolochia
A plant that can contain chemicals linked to cancer of the upper urinary tract and bladder.
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Types of cancer caused by HPV?
Types of cancer caused by HPV?
HPV can cause several types of cancer, but cervical cancer is the most common.
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What cancer is linked to asbestos?
What cancer is linked to asbestos?
Exposure to asbestos can increase the risk of mesothelioma.
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Cancer linked to aflatoxin?
Cancer linked to aflatoxin?
Aflatoxin, a toxin found in some crops, is linked to liver cancer.
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Cancer associated with aromatic amines?
Cancer associated with aromatic amines?
Exposure to aromatic amines can increase the risk of bladder cancer.
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Cancer linked to Aristolochia?
Cancer linked to Aristolochia?
Aristolochia, a plant used in some herbal products, is linked to cancer of the upper urinary tract and bladder.
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Main types of medical mutagens?
Main types of medical mutagens?
The main medical mutagens are radiotherapy and chemotherapy.
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Most common cancers caused by viruses?
Most common cancers caused by viruses?
The most common cancers caused by viruses are liver cancer (HBV and HCV), cervical cancer (HPV), and nasopharyngeal cancer, Burkitt lymphoma, and Hodgkin lymphoma (EBV).
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What cancers are associated with HBV and HCV?
What cancers are associated with HBV and HCV?
Both viruses can cause liver cancer due to chronic infection and inflammation.
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What type of cancer is linked to HPV?
What type of cancer is linked to HPV?
Cervical cancer is the most common type associated with HPV. However, it may also cause other cancers.
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Cancer as Acquired Genetic Diseases
- Cancers are genetic diseases arising from dysregulation of genes.
- Oncogenes and tumor suppressor genes play crucial roles in cancer development.
- Mutations in these genes can lead to cancer.
DNA Translation into Protein
- Genes encode proteins.
- Transcription converts DNA to pre-mRNA.
- Pre-mRNA is processed into mRNA, removing introns.
- mRNA is translated into a protein sequence in the cytoplasm.
Steps from DNA to Active Protein
- DNA is packaged with histone proteins into chromatin.
- Chromatin structure modifications affect gene accessibility.
- Histone modifications control gene expression.
- Transcription factors bind to DNA and initiate transcription.
- RNA processing, transport, and localization are crucial steps.
- Proteins are modified and activated.
RB1 Gene
- RB1 is a tumor suppressor gene.
- RB1 is involved in cell cycle regulation.
- RB1 mutations can lead to uncontrolled cell division.
- RB1 mutations can cause retinoblastoma.
- RB1 is a large gene with multiple exons that influence mRNA size.
- Specific mutations can disrupt splicing, reducing or eliminating RB1 protein function.
INK4 Tumor Suppressors
- INK4 is a family of cyclin-dependent kinase inhibitors.
- INK4 inhibits CDK4/6 and Cyclin D activity.
- INK4 prevents RB1 phosphorylation.
- RB1 regulates the G1 to S phase transition.
- INK4 deletions remove the tumor suppressor effect of INK4.
ARF Tumor Suppressor
- ARF is a GTP-binding protein of the RAS superfamily.
- ARF inhibits MDM2 activity.
- MDM2 enhances p53 ubiquitination and degradation.
- p53 regulates cell cycle checkpoints and apoptosis.
- ARF deletion removes the tumor suppressor effect of p53.
Philadelphia Chromosome
- A reciprocal translocation between chromosomes 9 and 22.
- Fusion of BCR and ABL genes.
- Creates a constitutively active BCR-ABL1 tyrosine kinase.
- BCR-ABL1 is a hallmark of chronic myeloid leukemia (CML).
- Tyrosine kinase inhibitors, such as imatinib (Gleevec), target BCR-ABL1.
MDM2 Amplification
- MDM2 is a negative regulator of p53.
- MDM2 ubiquitinates and degrades p53.
- MDM2 amplification leads to more MDM2 protein.
- MDM2 amplification reduces p53 levels, which can contribute to cancer.
- MDM2 mutations can cause MDM2 to be over-active
RAS
- RAS mutations can lead to constantly active RAS protein.
- Increased activity of RAS results in uncontrolled cellular growth.
- RAS mutations are commonly found in various types of cancer.
- RAS mutations disproportionately affect the regulation of cell proliferation, differentiation and survival.
TP53 Gene
- TP53 is a critical tumor suppressor gene.
- TP53 is frequently mutated in many cancers.
- TP53 regulates cell cycle control and apoptosis.
- TP53 mutations can compromise cell function and survival.
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