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Ch. 11 - Gene Mutation, DNA Repair, and Homologous Recombination
Chapter 11, Problem 1

Identify the normal functions of the following genes whose mutations are associated with the development of cancer.

APC (familial adenomatous polyposis)

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1
Understand that the APC gene is a tumor suppressor gene, which means its normal function is to regulate cell growth and ensure that cells do not divide uncontrollably.
Recognize that the APC gene is involved in the Wnt signaling pathway, which is crucial for controlling the cell cycle and ensuring proper cell differentiation.
Note that the APC protein helps in the degradation of β-catenin, a protein that, when accumulated, can lead to increased cell proliferation and tumor formation.
Realize that mutations in the APC gene can lead to a loss of its tumor-suppressing function, resulting in the accumulation of β-catenin and the promotion of cancerous growths, particularly in the colon.
Understand that familial adenomatous polyposis (FAP) is a hereditary condition caused by mutations in the APC gene, leading to the development of numerous polyps in the colon and an increased risk of colorectal cancer.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Tumor Suppressor Genes

Tumor suppressor genes are crucial for regulating cell growth and preventing uncontrolled cell division. They produce proteins that help repair DNA, control the cell cycle, and promote apoptosis (programmed cell death). When these genes are mutated, their function is lost, leading to increased risk of cancer due to unchecked cellular proliferation.
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APC Gene Function

The APC (Adenomatous Polyposis Coli) gene is a key tumor suppressor involved in the regulation of cell adhesion and the Wnt signaling pathway. It helps control the degradation of β-catenin, a protein that, when accumulated, can lead to excessive cell growth and tumor formation. Mutations in the APC gene are primarily associated with familial adenomatous polyposis, a condition that significantly increases the risk of colorectal cancer.
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Cancer Development Mechanisms

Cancer development often involves a series of genetic mutations that disrupt normal cellular functions. These mutations can affect oncogenes, which promote cell division, and tumor suppressor genes, which inhibit it. The interplay between these genetic changes leads to the transformation of normal cells into cancerous ones, highlighting the importance of understanding specific gene functions in cancer biology.
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