BIOL 1301 DF unit 4

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For the discussion of this week, I will focus on breast cancer as an example of a specific type of cancer. Genetic Mutations in Breast Cancer: Breast cancer can arise due to various genetic mutations, and two of the most well-known genes associated with hereditary breast cancer are BRCA1 and BRCA2 (Mavaddat et al., 2021). Mutations in these genes significantly increase the risk of developing breast and ovarian cancer (Narod & Foulkes, 2015). These genes play a critical role in repairing damaged DNA, and when they are mutated, the DNA repair process becomes faulty, leading to the accumulation of genetic abnormalities and the development of cancer (Mavaddat et al., 2021). Other genetic alterations can also contribute to breast cancer, including mutations in TP53, PTEN, and several genes involved in cell cycle regulation and cell growth signaling pathways (Mavaddat et al., 2021). These genetic changes disrupt the normal checks and balances on cell growth and division, leading to uncontrolled cell proliferation (Mavaddat et al., 2021). Therapeutic Approaches for Breast Cancer: Surgery: Lumpectomy: Removal of the tumor and a small amount of surrounding healthy tissue (National Cancer Institute, 2021). Mastectomy: Removal of the entire breast. This may be necessary in cases of large tumors or certain types of breast cancer (National Cancer Institute, 2021). Sentinel Lymph Node Biopsy: Removal and examination of nearby lymph nodes to determine if cancer has spread (National Cancer Institute, 2021).

Radiation Therapy: Radiation is used to target and kill cancer cells that may remain in the breast area after surgery (National Cancer Institute, 2021). It can also be used to relieve symptoms in advanced breast cancer cases (National Cancer Institute, 2021). Chemotherapy: Chemotherapy drugs are administered orally or intravenously to target rapidly dividing cancer cells throughout the body (National Cancer Institute, 2021). It is used as adjuvant therapy after surgery to reduce the risk of cancer recurrence and as neoadjuvant therapy before surgery to shrink tumors (National Cancer Institute, 2021). Hormone Therapy: Hormone therapy is effective for hormone receptor-positive breast cancers (estrogen receptor- positive or progesterone receptor-positive) (National Cancer Institute, 2021). Medications like tamoxifen and aromatase inhibitors block hormone receptors on cancer cells to inhibit their growth (National Cancer Institute, 2021). Targeted Therapy: HER2-targeted therapies like trastuzumab (Herceptin) and pertuzumab (Perjeta) specifically target HER2-positive breast cancer cells (National Cancer Institute, 2021).

CDK4/6 inhibitors like palbociclib (Ibrance) target the proteins responsible for cell cycle regulation (National Cancer Institute, 2021). Immunotherapy: Immunotherapies like checkpoint inhibitors are being explored for breast cancer treatment (National Cancer Institute, 2021). These drugs aim to boost the patient's immune system to recognize and attack cancer cells (National Cancer Institute, 2021). Genetic Targeted Therapies: While most current therapies focus on managing symptoms and controlling the growth and spread of breast cancer, efforts are underway to develop more precise genetic therapies. These therapies aim to directly address the genetic mutations responsible for cancer. Some promising approaches include: PARP Inhibitors: These drugs target DNA repair mechanisms and are particularly effective in breast cancers with BRCA mutations. They prevent cancer cells from repairing DNA damage, leading to their death (Lord & Ashworth, 2017). Gene Editing Techniques: Emerging technologies like CRISPR-Cas9 offer the potential to directly edit the DNA of cancer cells, correcting or mitigating the genetic mutations responsible for cancer (Lord & Ashworth, 2017). Precision Medicine: This approach involves tailoring treatment plans based on a patient's specific genetic profile and the genetic makeup of their tumor. It aims to identify the most effective therapies for individual patients (Mavaddat et al., 2021). Conclusion,

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Breast cancer is a complex disease driven by genetic mutations that disrupt normal cellular processes. Current therapies primarily target the symptoms and progression of the disease, but ongoing research is exploring genetic treatments that could directly address the underlying genetic abnormalities responsible for breast cancer (Mavaddat et al., 2021). These approaches hold promise for more personalized and effective treatments in the future. References: American Cancer Society. (2021). Breast Cancer . https://www.cancer.org/cancer/breast- cancer.html Lord, C. J., & Ashworth, A. (2017). PARP inhibitors: Synthetic lethality in the clinic. Science, 355(6330), 1152-1158. https://doi.org/10.1126/science.aam7344 Mavaddat, N., Antoniou, A. C., Easton, D. F., & Garcia-Closas, M. (2021). Genetic susceptibility to breast cancer. Molecular Oncology , 15(4), 1000-1013. https://doi.org/10.1002/1878- 0261.12969 Narod, S. A., & Foulkes, W. D. (2015). BRCA1 and BRCA2: 1994 and beyond. Nature Reviews Cancer , 4(9), 665-676. https://doi.org/10.1038/nrc1431 National Breast Cancer Foundation. (2021). Genetic Mutations and Breast Cancer . https://www.nationalbreastcancer.org/genetic-mutations-and-breast-cancer National Cancer Institute. (2021). Hormone Therapy for Breast Cancer. https://www.cancer.gov/types/breast/hp/breast-hormone-therapy-pdq National Cancer Institute. (2021). Genetics of Breast and Gynecologic Cancers (PDQ) - Health Professional Version. https://www.cancer.gov/types/breast/hp/breast-ovarian-genetics-pdq

National Cancer Institute. (2021). Breast Cancer Treatment (PDQ) - Health Professional Version. https://www.cancer.gov/types/breast/hp/breast-treatment-pdq

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