NURS 530 Week 1 Discussion 2

NURS 530 Week 1 Discussion 2

1. Discuss the inherited mutation genes BRCA and BRA2, their prevalence, risks for different cancers, and recommended surveillance for those with a confirmed genetically inherited mutation. What are your thoughts on genetic testing?

BRCA 1 (Breast Cancer Gene 1) and BRCA 2 are genes that play a significant role in repairing the damaged DNA by producing proteins. According to National Cancer Institute [NCI] (2020), everyone has two copies of genes, inherited from each parent. However, changes in these genes, especially pathogenic variations can result in an increased risk of various types of cancer, including breast, ovarian, fallopian tube, prostate, and peritoneal cancer. In terms of prevalence, inherited mutation genes BRCA 1 and BRCA 2 and associated types of cancer are burdensome. Nelson et al. (2019) contend that 1 in 300 to 500 individuals grapple with BRCA1/2 in the general population, accounting for about 5% to 10% of breast and approximately 15% of ovarian cancer. Age and ethnicity are among non-modifiable risk factors for BRCA1/2 inherited mutation, with people aged ≥70 years demonstrating a significant vulnerability to these conditions.

The recommended surveillance strategies for screening inherited mutation genes BRCA 1 and BRCA 2 are vital for early detection. According to Warner (2018), mammography and magnetic resonance imaging (MRI) are the gold standards for breast cancer screening. Although these interventions are vital in the early detection of breast cancer, they exhibit various shortcomings. For example, BRCA 1-related tumors are less detachable by mammography since they are typically cellular and fleshy (Warner, 2018). Equally, MRIs are expensive and often unavailable in middle-income and developing countries. From a personal perspective, early genetic testing is essential in detecting the risk of BRCA 1/2-related cancers. However, healthcare professionals should educate communities on the importance of genetic surveillance and enhance people’s literacy on risk factors for breast cancer.

References

National Cancer Institute. (2020, November 25). BRCA gene mutations: Cancer risk and genetic testing fact sheet. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet#what-other-cancers-are-linked-to-harmful-variants-in-brca1-and-brca2

Nelson, H. D., Pappas, M., Cantor, A., Haney, E., & Holmes, R. (2019). Risk assessment, genetic counseling, and genetic testing for BRCA-Related cancer in women. JAMA, 322(7), 666. https://doi.org/10.1001/jama.2019.8430

Warner, E. (2018). Screening BRCA1 and BRCA2 mutation carriers for breast cancer. Cancers, 10(12), 477. https://doi.org/10.3390/cancers10120477

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Week 1 Discussion Forum Prompt 2
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Select one of the following discussion prompts to address:

Discuss the inherited mutation genes BRCA and BRCA 2, their prevalence, risks for different cancers, and recommended surveillance screenings for those with a confirmed genetically inherited mutation. What are your thoughts on genetic testing?
Discuss the inherited disorders familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer, their prevalence, responsible genes, and screening recommendations for those confirmed with the inherited gene.
Analyze the evidence regarding the contribution of genetics and/or environment for obesity, Alzheimer’s disease, alcoholism, and schizophrenia. In the case of obesity, what impact does it have in our society today?
Use at least one scholarly source other than your textbook to connect your response to national guidelines and evidence-based research in support of your ideas.