Cancer Cytogenetics Overview

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Questions and Answers

What role do tumor suppressor genes play in cell division?

  • They initiate cell repair without apoptosis.
  • They ensure cells become oncogenes.
  • They promote uncontrolled cell division.
  • They act as checkpoints during the cell cycle. (correct)

Which of the following statements is true about mutated tumor suppressor genes?

  • They speed up the cell cycle process.
  • They cause cells to undergo apoptosis.
  • They can lead to tumor formation. (correct)
  • They enhance DNA repair mechanisms.

Which proto-oncogene type is involved in generating cellular oncogenes?

  • Tumor Suppressor Oncogenes (t-oncogenes)
  • Cellular Oncogenes (c-oncogenes) (correct)
  • Mitochondrial Oncogenes (m-oncogenes)
  • Normal Oncogenes (n-oncogenes)

Which of the following is a function of the TP53 tumor suppressor gene?

<p>It maintains genomic stability. (D)</p> Signup and view all the answers

What happens when tumor suppressor genes detect damage during cell division?

<p>They initiate cell apoptosis. (A)</p> Signup and view all the answers

In the context of tumor suppressor genes, what is the consequence of cells evading apoptosis?

<p>Tumor formation may occur. (B)</p> Signup and view all the answers

Which of the following best describes proto-oncogenes?

<p>They promote normal cell division. (B)</p> Signup and view all the answers

Which event does NOT occur as a result of mutated tumor suppressor genes?

<p>Initiation of apoptosis. (B)</p> Signup and view all the answers

Which chromosomal abnormality is associated with Burkitt Lymphoma?

<p>t(8;14) (C)</p> Signup and view all the answers

What is the role of the RB gene in cell cycle regulation?

<p>Inhibits the cell cycle at the G1 phase (B)</p> Signup and view all the answers

Which oncogene is commonly amplified in Acute Myeloid Leukemia (AML)?

<p>MYC (D)</p> Signup and view all the answers

The Philadelphia chromosome is a specific translocation associated with which cancer?

<p>Chronic Myeloid Leukemia (B)</p> Signup and view all the answers

Which gene is referred to as the 'Guardian of the Genome'?

<p>TP53 (C)</p> Signup and view all the answers

Which condition is directly related to mutations in the TP53 gene?

<p>Li-Fraumeni Syndrome (B)</p> Signup and view all the answers

What type of chromosomal abnormalities are t(15;17), t(8;21), and inv(16) associated with?

<p>Acute Myeloid Leukemia (C)</p> Signup and view all the answers

What is the main consequence of homozygous loss of function in the p53 gene?

<p>Uncontrolled cell proliferation (C)</p> Signup and view all the answers

What is the role of tumor suppressor genes in regulating cell growth?

<p>They promote apoptosis when necessary. (A), They produce proteins that inhibit cell growth. (D)</p> Signup and view all the answers

Which of the following chromosomal abnormalities is associated with Burkitt's Lymphoma?

<p>Translocation between chromosomes 8 and 14 (C)</p> Signup and view all the answers

What effect does the fusion of BCR-ABL genes have on cell function?

<p>It decreases the rate of apoptosis. (A), It leads to malignant transformation. (B)</p> Signup and view all the answers

How do proto-oncogenes differ from tumor suppressor genes?

<p>Proto-oncogenes may lead to cancer when mutated, while tumor suppressor genes prevent it. (A)</p> Signup and view all the answers

What is the primary consequence of the overexpression of the MYC gene?

<p>Promotion of malignant transformation (C)</p> Signup and view all the answers

What type of therapy targets specific molecular abnormalities in cancer?

<p>Targeted therapy (D)</p> Signup and view all the answers

Which statement correctly describes the action of tumor suppressor genes?

<p>They act to prevent the formation of tumors. (A)</p> Signup and view all the answers

What happens when the function of both alleles of tumor suppressor genes is lost?

<p>Malignancy can occur. (A)</p> Signup and view all the answers

Flashcards

Tumor Suppressor Genes

Genes that act as brakes on cell division and growth.

Cell Cycle Checkpoints

Steps in the cell cycle that ensure accuracy.

Apoptosis

Programmed cell death.

TP53

A key tumor suppressor gene, often called the 'guardian of the genome'.

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Mutation/Deletion of Tumor Suppressor Genes

Changes that disable tumor suppressor genes, allowing cells to grow uncontrollably.

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Cancer Formation

Uncontrolled cell growth and evasion of apoptosis.

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Cell Division

Process by which a cell divides into two new cells.

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Uncontrolled Cell Growth

Rapid and unregulated multiplication of cells, a hallmark of cancer.

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Targeted Therapy

A cancer treatment that attacks only cancer cells, unlike broader treatments.

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MYC oncogene

A gene that, when overexpressed, leads to uncontrolled cell growth, potentially causing cancer.

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Burkitt's Lymphoma

A type of cancer linked to the MYC oncogene's overexpression.

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Chromosome Translocation

The movement of a piece of one chromosome to another.

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BCR-ABL Gene Fusion

A hybrid gene formed when two separate genes, BCR and ABL, merge, often causing uncontrolled cell growth.

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Inhibition of Apoptosis

Stopping programmed cell death, allowing cancerous cells to survive.

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Tumor Suppressor Gene Function

Normally block abnormal growth and malignant transformation.

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Mutation and Disregulation of WT1

Causes uncontrolled cell growth, leading to leukemia and lymphoma development.

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MYC Amplification

An increase in MYC oncogene copies, observed in various cancers, including breast cancer and lymphoma.

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Philadelphia Chromosome

Translocation t(9;22) found in chronic myeloid leukemia (CML), leading to a fusion gene.

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Acute Myeloid Leukemia (AML)

A type of leukemia with chromosomal abnormalities like t(15;17), t(8;21), and inv(16).

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p53 Gene (TP53)

Known as the 'Guardian of the Genome,' located on 17p13.1, and often mutated in cancers.

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RB Gene

Located on 13q14; its inactivation by deletion or mutation leads to uncontrolled cell division.

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Li-Fraumeni Syndrome

Rare genetic condition due to a p53 gene mutation, increasing cancer risk.

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Study Notes

Cancer Cytogenetics

  • Cancer is a genetic disease, caused by DNA mutations affecting normal cellular processes.
  • Genetic changes can be oncogenes (mutated proto-oncogenes) or tumor suppressor genes.
  • Oncogenes promote uncontrolled cell growth and division.
  • Tumor suppressor genes regulate cell growth and cell division preventing uncontrolled proliferation.
  • Cancer develops through the accumulation of genetic mutations in somatic cells.
  • Tumors are clonal expansions of cells with genetic damage.
  • Tumors can be benign (non-cancerous) or malignant (cancerous).
  • Benign tumors are localized, regular in shape, and enclosed within a capsule.
  • Malignant tumors are cancerous, invade surrounding tissues, metastasize (spread), and evade apoptosis (programmed cell death).
  • Cancer cells can spread using the bloodstream and lymphatic system.

Genes and Cancer

  • Proto-oncogenes are normal genes that regulate cell growth and division.
  • If proto-oncogenes are mutated, they become oncogenes that promote uncontrolled cell growth.
  • Tumor suppressor genes normally prevent uncontrolled cell growth.
  • Loss of function in tumor suppressor genes leads to uncontrolled cell growth.
  • Examples of proto-oncogenes include MYC, which normally promotes cell proliferation.
  • Mutated Myc causes uncontrolled cell growth.
  • TP53 (Tumor Protein 53) is a crucial tumor suppressor gene that regulates cell cycle, genomic stability, and apoptosis.

Chromosomal Abnormalities in Cancer

  • Structural abnormalities involve alterations in chromosomal architecture, affecting gene expression.
  • Translocations, inversions, insertions, duplications, and deletions are examples of structural abnormalities.
  • Numerical abnormalities involve abnormal numbers of chromosomes (aneuploidy).
  • Aneuploidy can increase genetic instability/instability and cause cancer.
  • Examples of chromosomal abnormalities in cancer include Philadelphia chromosome (BCR-ABL), and t(8;14) translocation.

Cytogenetic Tests in Cancer

  • Karyotyping visually examines chromosomes.
  • FISH (Fluorescence In-Situ Hybridization) identifies specific genes or chromosomal regions.
  • CMA (Chromosomal Microarray Analysis) detects chromosomal anomalies.
  • These tests help diagnose cancer, determine disease stage, predict treatment response, and assess recurrence risk.

Diagnosis and Prognosis of Cancer

  • Understanding the specific cancer type is crucial.
  • Determining the disease stage (extent of the cancer) is important.
  • Predicting treatment response and estimating recurrence risk are essential for prognosis.

Genetic Counseling in Cancer

  • Gathering family history helps assess genetic risk.
  • Evaluating genetic testing options, supporting decisions about testing, and providing emotional support are essential.

Gene therapy

  • Gene therapy involves manipulating genes.
  • Approaches to correct faulty genes, enhance the activity of useful genes, and disable harmful genes.

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