DNA sequencing has provided data to indicate that cancer cells may contain tens of thousands of somatic mutations, only some of which confer a growth advantage to a cancer cell. How do scientists describe and categorize these recently discovered populations of mutations in cancer cells?
Ch. 24 - Cancer Genetics

Chapter 24, Problem 15
How do translocations such as the Philadelphia chromosome contribute to cancer?
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Understand that a translocation is a chromosomal abnormality where a segment of one chromosome breaks off and attaches to another chromosome, potentially disrupting normal gene function.
Recognize that the Philadelphia chromosome is a specific translocation between chromosomes 9 and 22, denoted as t(9;22)(q34;q11), which fuses parts of two genes: BCR from chromosome 22 and ABL from chromosome 9.
Learn that this fusion creates a novel BCR-ABL gene that encodes a constitutively active tyrosine kinase enzyme, which means it is always 'on' and continuously signals cells to divide.
Understand that this uncontrolled signaling leads to increased cell proliferation and reduced apoptosis (programmed cell death), contributing to the development of cancer, specifically chronic myelogenous leukemia (CML).
Summarize that translocations like the Philadelphia chromosome contribute to cancer by creating abnormal fusion genes that produce proteins disrupting normal cell cycle regulation and promoting malignant transformation.

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Key Concepts
Here are the essential concepts you must grasp in order to answer the question correctly.
Chromosomal Translocations
Chromosomal translocations occur when segments from two different chromosomes break and reattach to each other. This rearrangement can disrupt normal gene function or create novel gene fusions, which may alter cellular behavior. Translocations are a common genetic abnormality in various cancers.
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Reciprocal Translocation
Philadelphia Chromosome
The Philadelphia chromosome is a specific translocation between chromosomes 9 and 22, producing the BCR-ABL fusion gene. This abnormal gene encodes a constitutively active tyrosine kinase that drives uncontrolled cell division, primarily associated with chronic myeloid leukemia (CML).
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Chromosome Structure
Oncogene Activation and Cancer Development
Oncogenes are mutated or abnormally expressed genes that promote cancer. Translocations can activate oncogenes by creating fusion proteins or misregulating gene expression, leading to increased cell proliferation and survival. This process is a key mechanism by which genetic changes contribute to cancer.
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Cancer Mutations
Related Practice
Textbook Question
Textbook Question
If a cell suffers damage to its DNA while in S phase, how can this damage be repaired before the cell enters mitosis?
Textbook Question
Distinguish between oncogenes and proto-oncogenes. In what ways can proto-oncogenes be converted to oncogenes?
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Textbook Question
Explain why many oncogenic viruses contain genes whose products interact with tumor-suppressor proteins.
Textbook Question
How do normal cells protect themselves from accumulating mutations in genes that could lead to cancer? How do cancer cells differ from normal cells in these processes?
Textbook Question
Of the two classes of genes associated with cancer, tumor-suppressor genes and oncogenes, mutations in which group can be considered gain-of-function mutations? In which group are the loss-of-function mutations? Explain.
