DB 1 - Advanced Pathophysiology

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University of Hawaii *

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N461

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Electrical Engineering

Date

Dec 6, 2023

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docx

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DB 1 Genetics and Malignancy: Case Presentation JM is a 44-year-old premenopausal woman who presents for her annual gynecologic examination. She has a history of "cystic" breasts and has never had a mammogram. Today she is concerned about a new lump in her left breast that she first noticed about 8 weeks ago. Her maternal grandmother was diagnosed with breast cancer at age 78. She has one child, born when she was 34. She has never breast-fed. She began menstruation at age 12. She has a 7–8-year history of birth control pills. Use the following questions to provide a framework for the online discussion:  What significance is the history of her maternal grandmother?  What is the significance of "cystic" breasts?  What is the importance of the birth control pill history? Late childbirth? Breast feeding history?  If this is a malignancy, what are the most likely routes of metastasis? Initial Post In 2020, there were an estimated 18.1 million cancer cases worldwide (World Health Organization, 2023). Breast cancer was ranked first worldwide in 2020, contributing to 12.5% of new patients diagnosed (World Cancer Research Fund International, 2021). Roughly half of all breast cancers occur in women with no specific risk factors other than sex and age. Breast cancer occurs when cells grow abnormally in the breast. The breast cells divide more rapidly than healthy cells do and continue to accumulate, forming a lump or mass (Rogers & Brashers, 2023). JM’s family history of breast cancer is significant because she has a second-degree relative with breast cancer, which increases her risk considerably. However, JM is not in the same risk category as those who have a first-degree relative with breast cancer. First-degree relatives with breast cancer who developed breast cancer below the age of 50 should consider some form of breast imaging ten years before their relative’s diagnosis (National Breast Cancer Foundation, 2023). Many breast lumps are discovered to be benign (non-cancerous) alterations in fibrous tissue or cysts, collectively known as fibrocystic abnormalities, which are common findings in many women. Women of childbearing age experience fibrocystic changes more frequently, but they can affect women of all ages. Generally, no treatment is needed for fibrocystic breast changes unless they are causing discomfort, but a healthcare professional should check all breast lumps. Due to JM’s medical and family history, it is good that she came in to have her new lump further evaluated. If JM’s lump is a painful cyst, it may be drained using a hollow needle, which would also help confirm the diagnosis. If removed, the fluid may come back over time. If the cyst does come back and continues to cause discomfort, surgery might be an option to remove the whole cyst sac. JM’s medical history is significant due to a meta-analysis that showed that oral contraceptive use was associated with a significantly increased risk of breast cancer. The meta-analysis also found, relating to JM’s case, that increased risk was associated considerably with non-breastfeeding,

older age at first parity, and family history of breast cancer (Barańska et. al., 2021). If JM’s breast lump was found to be malignant, it most frequently metastasizes to the bone. A mechanism between the bone osteogenic niche and cancer cells is the influx of calcium, which promotes the progression of bone metastasis (Rogers & Brashers, 2023). References Barańska, A., Błaszczuk, A., Kanadys, W., Malm, M., Drop, K., & Polz-Dacewicz, M. (2021). Oral contraceptive use and breast cancer risk assessment: A systematic review and meta- analysis of case-control studies, 2009-2020. Cancers , 13 (22), 5654. https://www.mdpi.com/2072-6694/13/22/5654 National Breast Cancer Foundation. (2023, June). Myth: If you have a family history of breast cancer, you are likely to develop breast cancer, too. https://www.nationalbreastcancer.org/breast-cancer-myths/if-you-have-a-family-history- of-breast-cancer-you-are-likely-to-develop-breast-cancer-too/ Rogers, J. L., & Brashers, V. L. (Eds.). (2023). McCance & Huether’s pathophysiology: the biologic basis for disease in adults and children (9th edition.). Elsevier. World Cancer Research Fund International. (2021). Worldwide cancer data. https://www.wcrf.org/cancer-trends/worldwide-cancer-data/ Links to an external site. World Health Organization. (2023, July 12). Breast cancer. https://www.who.int/news-room/fact- sheets/detail/breast-cancer#:~:text=WHO%20response,globally%20between %202020%20and%202040 Response Post #1 Hello Norma, Thank you for your detailed discussion board post on the genetics and malignancy case presentation. As you stated, it is imperative to be proactive in health care. JM provided the provider with pertinent information to help with her overall assessment, diagnosis, and plan of care plan. JM had a few breast cancer risk factors. Additional breast cancer risk factors include obesity, alcohol consumption, reproductive history, smoking, and postmenopausal hormone therapy (World Health Organization, 2023). Gender (female) and age (over 40) are the most vital risk factors for breast cancer in women, accounting for around half of all cases. Although having a known family history of the disease increases the risk of developing breast cancer, most women who are diagnosed with the disease do not have a family history of breast cancer (World Health Organization, 2023). If public health education was made available to increase awareness among women of the signs and symptoms of breast cancer, more women would seek medical attention when breast cancer is first suspected and before any existing cancer has progressed. It is crucial to help all women and their families understand the importance of early detection and treatment. This is feasible even without a mammography screening, which is impractical in many nations (Behravan et al., 2020).

I appreciate your comprehensive discussion post, Norma. Thank you for sharing. I look forward to reading your future discussion board posts in this course. Best regards, Carly Piña References Behravan, H., Hartikainen, J. M., Tengström, M., Kosma, V., & Mannermaa, A. (2020). Predicting breast cancer risk using interacting genetic and demographic factors and machine learning. Scientific Reports, 10(1), 1–16. https://doi- org.proxy.westernu.edu/10.1038/s41598-020-66907-9 World Health Organization. (2023, July 12). Breast cancer. https://www.who.int/news-room/fact- sheets/detail/breast-cancer#:~:text=WHO%20response,globally%20between %202020%20and%202040 Response Post #2 Hello Grace, Thank you for your comprehensive discussion board post on the genetics and malignancy case presentation. I agree with you that the management of metastasis has evolved immensely. However, despite recent improvements, metastasis remains the leading reason for death from cancer. More than 90% of cancer deaths are due to metastasis (Ganesh & Massague, 2021). Metastasis is a systemic condition, unlike primary tumors, which can frequently be treated with local surgery or radiation. Therefore, systemic techniques are the cornerstone of metastasis prevention and treatment, including screening, chemotherapy, targeted therapy, and immunotherapy. Recent research has revealed the distinct biology of cells that initiate metastasis, trigger tumor growth in distant organs, evasion of immune surveillance, and co-option of metastatic micro- environments (Nathanson et al., 2022). Effective therapeutic targeting of metastatic cancer must consider both the mechanisms used by dormant and growing metastases to contaminate, appoint their roles, and evade immune surveillance, in addition to the dynamic plasticity of the cancer cells themselves as they advance through the metastatic cascade (Nathanson et al., 2022). It would be beneficial for us to pinpoint precisely how breast cancer spreads to drive the development of medications that concentrate on metastasis processes and may even enable us to forego harmful treatments that are now utilized to treat this condition. We could cure most patients with breast cancer if we had a medication that targeted a gene essential for metastasis. Thank you for sharing, Grace! Best regards,

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Carly Piña References Ganesh, K., & Massague, J. (2021). Targeting metastatic cancer. Nature Medicine , 27 (1), 34–44. https://doi-org.proxy.westernu.edu/10.1038/s41591-020-01195-4 Nathanson, S. D., Detmar, M., Padera, T. P., Yates, L. R., Welch, D. R., Beadnell, T. C., Scheid, A. D., Wrenn, E. D., & Cheung, K. (2022). Mechanisms of breast cancer metastasis. Clinical & Experimental Metastasis , 39 (1), 117–137. https://doi- org.proxy.westernu.edu/10.1007/s10585-021-10090-2 Response Post #3 Hello Kyle, Thank you for your informative discussion board post on the genetics and malignancy case presentation. I agree that JM may have inherited the BRCA1 or BRCA2 gene. A variety of variables influence each woman's risk. By the time women are in their 70s to 80s, 55%–72% inherit a detrimental BRCA1 mutation, and 45%–69% who inherit a hazardous BRCA2 variant will be diagnosed with breast cancer (National Cancer Institute, 2020). Anyone worried that they might be at risk for the BRCA1 or BRCA2 gene variant should talk to their doctor or a genetic counselor to possibly get tested. Tests are available to determine whether a person acquired the BRCA1 or BRCA2 gene. People can take precautions to lower their risk and spot cancer early on if they have a mutation in one of these genes. Additionally, if they have cancer, knowledge about their mutation may be crucial for choosing a course of therapy. Blood or saliva samples can test for inherited BRCA1 and BRCA2 mutations. Like all other cells in the body, blood cells and cells found in saliva possess the BRCA1 and BRCA2 genes. A positive test result means a person has inherited a known detrimental variation in BRCA1 or BRCA2. However, a positive test result cannot predict if or when the tested person will have cancer, which can weigh heavily on one's mind or the minds of their loved ones. On the other hand, a negative result doesn't guarantee that you won't develop cancer. Thank you for sharing, Kyle! Overall, great discussion board post! Best regards, Carly Piña References National Cancer Institute. (2020, November 19). BRCA gene mutations: cancer risk and genetic testing. https://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact- sheet#:~:text=Testing%20for%20inherited%20BRCA1%20and,the%20BRCA1%20and %20BRCA2%20genes