Case study 1 NUR640 2025, Papers of Pathophysiology

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Case Study 1 Daniela Crowley Thomas Edison State University NUR–640 Advanced Pathophysiology Dr. Gail Jones November 1, 2024

Analysis of Genetic and Epigenetic Factors in Mrs. Turner’s Breast Cancer Development The development of Mrs. Turner’s breast cancer can be attributed to both genetic and epigenetic factors. Her strong family history of breast cancer, particularly her mother’s diagnosis, suggests an inherited genetic predisposition. Mutations in BRCA1 and BRCA2 genes are commonly associated with an increased risk of breast cancer, with BRCA1 mutations specifically linked to more aggressive forms of the disease (Story, 2022). These mutations disrupt normal DNA repair mechanisms, leading to genomic instability and the accumulation of further mutations that drive carcinogenesis (Harbeck et al., 2019). Epigenetic modifications, such as DNA methylation and histone modifications, can also contribute to the pathophysiologic process by silencing tumor suppressor genes or activating oncogenes. For instance, hypermethylation of promoter regions in genes responsible for cell cycle regulation can facilitate unchecked cell proliferation (Story, 2022). The Role of Inflammation in the Development of Mrs. Turner’s Breast Cancer Inflammation is recognized as a contributing factor to the development and progression of many types of cancer, including breast cancer. Chronic inflammation can create a microenvironment that promotes tumorigenesis through the release of cytokines and growth factors that stimulate cellular proliferation, angiogenesis, and DNA damage (Harbeck et al., 2019). In Mrs. Turner’s case, while there is no direct mention of chronic inflammatory conditions, the presence of benign fibrocystic changes in her breast tissue could have contributed to a pro-inflammatory environment that may facilitate the transition to malignancy. The interaction between inflammatory mediators and estrogen signaling is particularly relevant, as estrogen-dependent tumors like Mrs. Turner’s can be influenced by inflammatory pathways that

References Harbeck, N., Penault-Llorca, F., Cortes, J., Gnant, M., Houssami, N., Poortmans, P., & Cardoso, F. (2019). Breast cancer. Nature Reviews Disease Primers, 5 (1), 66. https://doi.org/10.1038/s41572-019-0111- Story, L. (2022). Pathophysiology: A practical approach (4th ed.). Jones & Bartlett Learning.