Sarah has always lived what many consider an active and healthy lifestyle. She makes a conscious effort to eat well and exercise daily, never smoked, and drinks moderately. Many of Sarah's female relatives (including her mother and grandmother) have had breast cancer. Sarah has decided to have her genome sequenced. She is specifically interested in whether she shows mutations in BRCA1 and BRCA2 that are linked to breast cancer. What information can be drawn from the sequence data Sarah will receive? Justify your answer. • Sarah will know if she will develop breast cancer. Sarah will know if and when she will develop breast cancer. Sarah will know the severity of her breast cancer based on the number of mutations; that is, the more mutations in those genes, the greater the severity of the disease. Sarah will know whether she is predisposed to breast cancer. Sarah will know that she will not develop breast cancer if there are no mutations in those genes.

Phlebotomy Essentials
6th Edition
ISBN:9781451194524
Author:Ruth McCall, Cathee M. Tankersley MT(ASCP)
Publisher:Ruth McCall, Cathee M. Tankersley MT(ASCP)
Chapter1: Phlebotomy: Past And Present And The Healthcare Setting
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### Genetic Sequencing and Breast Cancer Risks

**Scenario:**

Sarah has always lived what many consider an active and healthy lifestyle. She makes a conscious effort to eat well and exercise daily, never smoked, and drinks moderately. Many of Sarah’s female relatives (including her mother and grandmother) have had breast cancer. Sarah has decided to have her genome sequenced. She is specifically interested in whether she shows mutations in BRCA1 and BRCA2 that are linked to breast cancer. 

---

**Question:**

What information can be drawn from the sequence data Sarah will receive? Justify your answer.

---

**Possible Information from Genetic Sequencing:**

- **Sarah will know if she will develop breast cancer.**
- **Sarah will know if and when she will develop breast cancer.**
- **Sarah will know the severity of her breast cancer based on the number of mutations; that is, the more mutations in those genes, the greater the severity of the disease.**
- **Sarah will know whether she is predisposed to breast cancer.**
- **Sarah will know that she will not develop breast cancer if there are no mutations in those genes.**

---

**Detailed Analysis:**

- **Predisposition vs. Certainty:**
  - Genetic sequencing can reveal **predisposition** to breast cancer by identifying mutations in BRCA1 and BRCA2 genes. However, it does not provide a definite answer if an individual **will** develop breast cancer or the exact timing. 

- **Mutation Severity Assessment:**
  - The number and type of mutations in the BRCA1 and BRCA2 genes can indicate an increased risk and potential severity but do not guarantee disease manifestation. 

- **No Mutations – No Risk?**
  - Even in the absence of detectable mutations in these genes, it does not guarantee absolute immunity from breast cancer due to other genetic or environmental factors that might contribute to the disease.

Understanding these genetic insights helps individuals like Sarah manage their health proactively, but it’s essential to consult with healthcare professionals for tailored advice and interpretation of genetic data.
Transcribed Image Text:### Genetic Sequencing and Breast Cancer Risks **Scenario:** Sarah has always lived what many consider an active and healthy lifestyle. She makes a conscious effort to eat well and exercise daily, never smoked, and drinks moderately. Many of Sarah’s female relatives (including her mother and grandmother) have had breast cancer. Sarah has decided to have her genome sequenced. She is specifically interested in whether she shows mutations in BRCA1 and BRCA2 that are linked to breast cancer. --- **Question:** What information can be drawn from the sequence data Sarah will receive? Justify your answer. --- **Possible Information from Genetic Sequencing:** - **Sarah will know if she will develop breast cancer.** - **Sarah will know if and when she will develop breast cancer.** - **Sarah will know the severity of her breast cancer based on the number of mutations; that is, the more mutations in those genes, the greater the severity of the disease.** - **Sarah will know whether she is predisposed to breast cancer.** - **Sarah will know that she will not develop breast cancer if there are no mutations in those genes.** --- **Detailed Analysis:** - **Predisposition vs. Certainty:** - Genetic sequencing can reveal **predisposition** to breast cancer by identifying mutations in BRCA1 and BRCA2 genes. However, it does not provide a definite answer if an individual **will** develop breast cancer or the exact timing. - **Mutation Severity Assessment:** - The number and type of mutations in the BRCA1 and BRCA2 genes can indicate an increased risk and potential severity but do not guarantee disease manifestation. - **No Mutations – No Risk?** - Even in the absence of detectable mutations in these genes, it does not guarantee absolute immunity from breast cancer due to other genetic or environmental factors that might contribute to the disease. Understanding these genetic insights helps individuals like Sarah manage their health proactively, but it’s essential to consult with healthcare professionals for tailored advice and interpretation of genetic data.
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