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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
Chapter 14, Problem C.9b

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. What features of family history increase the likelihood that a woman will have a harmful mutation of BRCA1 or BRCA2?

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1
Understand that BRCA1 and BRCA2 are genes where harmful mutations significantly increase the risk of breast and ovarian cancers.
Recognize that family history is a key factor in assessing the likelihood of carrying these mutations because these mutations are inherited in an autosomal dominant pattern.
Identify specific features in a family history that raise suspicion for BRCA mutations, such as multiple relatives with breast cancer, especially if diagnosed at a young age (before 50 years).
Look for occurrences of ovarian cancer in the family, as BRCA mutations also increase the risk for this cancer type.
Note if there are male relatives with breast cancer or if there is a pattern of related cancers (like pancreatic or prostate cancer) in the family, as these can also suggest a higher chance of BRCA mutations.

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Key Concepts

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

BRCA1 and BRCA2 Gene Mutations

BRCA1 and BRCA2 are genes that produce proteins responsible for repairing DNA damage. Harmful mutations in these genes impair DNA repair, increasing the risk of breast and ovarian cancers. Understanding these mutations helps identify individuals at higher genetic risk.
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Family History and Hereditary Cancer Risk

A family history of breast or ovarian cancer, especially at a young age or in multiple relatives, suggests a higher chance of inheriting BRCA mutations. Patterns such as multiple affected family members or cancers in both maternal and paternal lines increase suspicion of hereditary risk.
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Genetic Testing Criteria Based on Family History

Genetic testing for BRCA mutations is often recommended when family history shows early-onset breast cancer, multiple related cancers, or male breast cancer. These criteria help identify individuals who may benefit from testing and preventive measures.
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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. With regard to the results of genetic testing for BRCA1 and BRCA2 mutations, what is meant by a 'positive result'?

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Textbook Question

The inheritance of certain mutations of BRCA1 can make it much more likely that a woman will develop breast or ovarian cancer in her lifetime. Can you say with certainty that a woman inheriting a mutation of BRCA1 will definitely develop breast or ovarian cancer in her lifetime? Why or why not?

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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. What are the approximate percentage increases in risk of having breast cancer and of having ovarian cancer for women inheriting harmful mutations of BRCA1 and BRCA2 compared with the risks in the general population?

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Textbook Question

The inheritance of certain mutations of BRCA1 can make it much more likely that a woman will develop breast or ovarian cancer in her lifetime. In addition to inheriting a BRCA1 mutation, what else must happen for a woman to develop breast or ovarian cancer?

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Textbook Question

What are the advantages and disadvantages of using GFP versus lacZ as a reporter gene in mice, C. elegans, and Drosophila?

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Textbook Question

You conduct a study in which the transcriptional fusion of regulatory sequences of a particular gene with a reporter gene results in relatively uniform expression of the reporter gene in all cells of an organism. A translational fusion with the same gene shows reporter gene expression only in the nucleus of a specific cell type. Discuss some biological causes for the difference in expression patterns of the two transgenes.

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