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?
Table of contents
- 1. Introduction to Genetics51m
- 2. Mendel's Laws of Inheritance3h 37m
- 3. Extensions to Mendelian Inheritance2h 41m
- 4. Genetic Mapping and Linkage2h 28m
- 5. Genetics of Bacteria and Viruses1h 21m
- 6. Chromosomal Variation1h 48m
- 7. DNA and Chromosome Structure56m
- 8. DNA Replication1h 10m
- 9. Mitosis and Meiosis1h 34m
- 10. Transcription1h 0m
- 11. Translation58m
- 12. Gene Regulation in Prokaryotes1h 19m
- 13. Gene Regulation in Eukaryotes44m
- 14. Genetic Control of Development44m
- 15. Genomes and Genomics1h 50m
- 16. Transposable Elements47m
- 17. Mutation, Repair, and Recombination1h 6m
- 18. Molecular Genetic Tools19m
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
19. Cancer Genetics
Cancer Mutations
Problem C.9c
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'?

1
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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Mutations and Phenotypes
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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