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Ch. 14 - Analysis of Gene Function via Forward Genetics and Reverse Genetics
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
All textbooksSanders 3rd EditionCh. 14 - Analysis of Gene Function via Forward Genetics and Reverse GeneticsProblem C.11b
Chapter 14, Problem C.11b

Go to the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the Search box at the top of the page. From the list of options given, select '#120435—Lynch Syndrome.' Use the information you retrieve to answer the following questions. What genes are most commonly mutated in Lynch syndrome?

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1
Understand that Lynch syndrome is a hereditary condition associated with a higher risk of certain types of cancer, particularly colorectal cancer, caused by mutations in specific genes involved in DNA mismatch repair.
Go to the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the search box to access detailed genetic information about the syndrome.
From the search results, select the entry labeled '#120435—Lynch Syndrome' to view the curated genetic data related to this condition.
Review the gene section in the entry, which lists the genes most commonly mutated in Lynch syndrome. These genes typically include those involved in the DNA mismatch repair pathway.
Note the names of the key genes, such as MLH1, MSH2, MSH6, and PMS2, which are frequently reported as mutated in individuals with Lynch syndrome.

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Key Concepts

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

Lynch Syndrome

Lynch syndrome is an inherited disorder that increases the risk of colorectal cancer and other cancers. It is caused by mutations in genes responsible for DNA mismatch repair, leading to genetic instability. Understanding this syndrome helps in identifying at-risk individuals and guiding genetic testing.
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DNA Mismatch Repair Genes

DNA mismatch repair (MMR) genes encode proteins that correct errors during DNA replication. Mutations in these genes impair repair mechanisms, causing accumulation of mutations and cancer development. Key MMR genes include MLH1, MSH2, MSH6, and PMS2, which are commonly mutated in Lynch syndrome.
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Genetic Mutation and Cancer Risk

Mutations in specific genes can disrupt normal cellular functions and increase cancer susceptibility. In Lynch syndrome, inherited mutations in MMR genes lead to microsatellite instability and tumor formation. Recognizing these mutations is crucial for diagnosis, risk assessment, and preventive strategies.
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Related Practice
Textbook Question

Go to the website http://www.cancer.gov and select 'Cancer Types' on the top menu bar. Scroll down to 'Breast Cancer' and click. Select 'Cases & Prevention' from the options. Click 'More information' and select 'BRCA Mutations: Cancer Risk and Genetic Testing'. Use the information on this page to answer the following questions. As a special project, instead of selecting 'Breast Cancer' from the list of types of cancer, select another cancer you would like to know more about and produce a short summary of what you find.

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Textbook Question

What kind of information will be made available by The Cancer Genome Atlas (TCGA)? What sort of role do you think TCGA information will play in cancer diagnosis and cancer treatment in the future?

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Textbook Question

Go to the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the Search box at the top of the page. From the list of options given, select '#120435—Lynch Syndrome.' Use the information you retrieve to answer the following questions. There are two types of Lynch syndrome. What are they?

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Textbook Question

Go to the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the Search box at the top of the page. From the list of options given, select '#120435—Lynch Syndrome.' Use the information you retrieve to answer the following questions. Provide a brief summary of the normal functions of the protein products of these genes.

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Textbook Question

Go to the website http://www.ncbi.nlm.nih.gov/omim and enter 'Lynch syndrome' in the Search box at the top of the page. From the list of options given, select '#120435—Lynch Syndrome.' Use the information you retrieve to answer the following questions. What are the approximate rates of cancer that develop in people carrying a mutation of one of these genes?

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Textbook Question

Explain the following processes involving chromosome mutations and cancer development.

How the chromosome mutation producing Burkitt lymphoma generates the disease.

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