Genetics – Word Count 275
Over the past 17 years, there have been advances in the genetics with cloning of the genes BRCA 1 and BRCA 2. The pathogenic mutations in these genes have a very high penetrance. These mutations increase the risk of breast cancer up to ten times. BRCA 1 was linked to the chromosome of 17q in the starting of 1990. It was successfully cloned in 1994 (Lalloo and Evans). It is a very large gene. It contains 24 exons. The largest is the exon 11. The majority are found through frameshift mutations along the coding sequence. 10 percent of families with with breast and ovarian cancer are from BRCA 2 mutations. Many forms of breast cancers are found on the RNA sequence of TCGA (Bou-Dargham). This mutation entails a 40-85 percent risk of breast cancer (Lalloo and Evans). These mutations include the highest risk for breast cancer. However, only 5 percent of breast cancers come from inherited mutations. With the inherited genes and the lifetime risk of cancer, the chances of cancer is higher than the rest of the population without the mutations. These genes are a dominant gene in the family. But, when someone does not have a family history of breast cancer, the woman is considered sporadic if she is diagnosed with cancer. Genetic testing is offered to with a 20 percent greater chance of breast cancer by carrying the gene based on their family history (Familia Breast Cancer). Each time a woman with an inherited gene for breast cancer is pregnant, there is a 50 percent chance that the mother will pass down the gene to her child (Familial Breast Cancer).
Organ System Affected and Treatment Options – Word Count 523
Living with breast cancer will effect a woman’s reproductive and lymphatic system. A normal lymphatic system has a collection of immune system cells. It contains a clear liquid, called lymph. Lymph vessels carry the liquid away from the breasts. With cancer, breast cancer cells start to grow in the lymph nodes behind the breast tissue to create a tumor. The cancer can grow and become malignant in lobules and ducts within the breast (What is Breast Cancer?). A normal reproductive system contains both of the two ovaries and a uterus. With breast cancer, this system is affected by sexual hormones and the ovaries will be surgically removed. Having breast cancer can have many symptoms and signs. Skin irritation, swelling of a part of the breast, nipple discharge, and breast pain are common symptoms of breast cancer (What is Breast Cancer?). When diagnosed, there are many treatments to kill familia breast cancer. In other words, a study was done to a group of women on the baseline of breast cancer. When they found out they were exposed, after one year the group of women had at least one or both ovaries removed (Breast Cancer Risk Across the Spectrum). Another treatment option is a risk-reducing surgery. Women carrying the BRCA 1 and 2 genes can get a mastectomy before diagnosed with cancer. A mastectomy is an operation to remove the breast tissue (Familial Breast Cancer). There are many different kinds of mastectomies. From removing some breast tissue to removing the whole breast with the addition of the nipple and areola. Another surgery treatment is an oophorectomy, a removal of the ovary. This surgery is done for unaffected women that have a long family history of breast cancer. Other than surgeries, there are other different treatments. There is radiotherapy, chemotherapy, hormone treatments, biological treatments, and complementary and alternative therapies. Radiotherapy is the use of X-Rays and radiation to kill cancer cells. This treatment is after women who have had breast-conserving surgery. The symptoms are redness of the skin and thickening of the skin. (Department of Heath and Human Services). Another cancer cell killing treatment is chemotherapy. Treating this therapy is given intravenously. It is medicated to the cancer patient after surgery, radiotherapy, or both. Nausea, vomiting, and hair loss are common side effects. Another way to treat breast cancer is hormone treatment. This uses the hormones estrogen and progesterone since some breast cancers are formed from sex hormones. Hormone treatments prevent breast cancer from returning. Also, immunotherapies, or biological treatments is another option. It strengthens the immune system to fight back the cancer. Many of these treatments are through clinical trials and are still being researched (Department of Health and Human Services). Lastly, there are complementary and alternative therapies. While these therapies are not harmful to the body, these treatments help improve the lifestyle and health of the cancer patient. Complementary and alternative take a much different path than other invasive treatments. Managing breast cancer is done with having breast awareness and having breast self-exams. In addition, annual monograms are a way to scan and check for breast cancer (Familial Breast Cancer).