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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.9c
Chapter 14, Problem C.9c

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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Understand that BRCA1 and BRCA2 are genes where certain mutations can significantly increase the risk of developing breast and other cancers.
Recognize that genetic testing for BRCA mutations involves analyzing a person's DNA to identify specific changes or variants in these genes.
A 'positive result' in this context means that the genetic test has detected a mutation in either the BRCA1 or BRCA2 gene that is known to be associated with a higher risk of cancer.
This positive result indicates that the individual carries a hereditary mutation that may increase their likelihood of developing breast cancer or other related cancers compared to someone without the mutation.
It is important to note that a positive result does not guarantee cancer development but signifies an increased risk, which can guide medical management and preventive strategies.

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Key Concepts

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

BRCA1 and BRCA2 Genes

BRCA1 and BRCA2 are human genes that produce proteins responsible for repairing damaged DNA. Mutations in these genes can impair DNA repair, increasing the risk of developing breast and ovarian cancers. Understanding these genes is essential to grasp why their mutations are significant in cancer risk.
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Genetic Testing and Mutation Detection

Genetic testing analyzes DNA to identify mutations in specific genes like BRCA1 and BRCA2. A 'positive result' means a harmful mutation was found, indicating a higher risk for certain cancers. This testing helps guide prevention and treatment decisions.
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Implications of a Positive BRCA Test Result

A positive BRCA test result indicates the presence of a mutation that increases cancer risk but does not guarantee cancer development. It informs individuals about their elevated risk, enabling proactive measures such as increased screening, lifestyle changes, or preventive surgeries.
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Related Practice
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

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?

Textbook Question

Discuss the advantages (and possible disadvantages) of the different approaches to reverse genetics.

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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. Are there measures a woman with a positive result can take to lessen her chances of developing cancer or to catch a cancer early in its development?

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

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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. 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.