Breast cancer is one of the most common types of cancer, which is prominently diagnosed in women. For women, it is the main cause of cancer death. However, it can also be diagnosed in men as well. There is no clear reason as to the cause of breast cancer, but doctors hypothesize that a gene mutation can have some links to it. These breast cancer genes are BRCA1 and BRCA2, also known as gene 1 and gene 2. These genes give instructions for the production of proteins and behaves as a tumor suppressor. Symptoms of breast cancer consist of breast lumps, changes in the appearance of the breast, changes in the skin covering the breast, etc. Through extensive research and understanding of breast cancer, there has been an increase of survival rates. These factors consist of early detection and new treatment options.
Inherited breast cancer is linked towards BRCA1 and BRCA2. Someone who has inherited a mutation in these genes has a higher risk of developing breast cancer at a younger age. “Defects in the BRCA1 and BRCA2 genes are responsible for most hereditary forms of breast cancer and account for as many as 10% of all breast cancer cases” (Lou et al., 2014). These genes act as tumor suppressors which helps in averting the rapid reproduction of the cancer cells. They also are helpful in restoring damaged DNA. The DNA breaks and both of these proteins help in mending the breaks, which occurs during chromosomal exchange of genetic information in preparation for cell division. BRCA1 and BRCA2 can be received from either the mother or father. There is fifty percent chance of receiving these mutations if either parent carries this.
BRCA1 and BRCA2 are both located on the cytoplasm. However, new studies have showed “the description of BRCA1 as an exclusively nuclear protein” (Duncan, Reeves, & Cooke, 1998). It is now believed that in normal cells BRCA1 is a nuclear protein and in breast cells with a tumor they are cytoplasmic protein. A study was done between human and mouse genes which concluded that there is a low similarity of structure with other proteins and the mice. The study also suggests that the evolution of the protein and gene is at a fast pace because the “overall homology between human BRCA1 and its murine counterparts is only 58%” (Duncan et al., 1998). Similarly, BRCA2 also has a “59% homology with mouse BRCA2” (Duncan et al., 1998).
Inheriting a BRCA1 and BRCA2 mutation comes with many negative repercussions. Another recent study revealed “about 72% of women who inherit a harmful BRCA1 mutation and about 69% of women who inherit a harmful BRCA2 mutation will develop breast cancer by the age of 80”. (Kunchenbaecker, Hopper, Barnes, et al., 2017). This also leads to these women having an increased chance of developing cancer on the opposite breast. The study revealed forty percent of women with BRCA1 and twenty-six percent of women with BRCA2 will get breast cancer on the contralateral breast.
This figure represents the chances of developing cancer if an individual has a mutate gene of either BRCA1 or BRCA2. Retrieved from Enhancing Breast and Ovarian Cancer: BRCA1 and BRCA.
Within breast cancer, the most common type is invasive ductal carcinoma. “About 80% of all breast cancers are invasive carcinomas” (Invasive Ductal Carcinoma: Diagnosis, Treatment, and More, 2018). Invasive breast cancer is when the cancer has moved towards the breast tissue and has entered through the milk duct. This specific cancer can expand towards the lymph nodes as well. Based on a statistic done by the American Cancer Society, “more than 180, 000 women in the United States find out they have invasive breast cancer each year” (Invasive Ductal Carcinoma: Diagnosis, Treatment, and More, 2018). Symptoms that are a clear indicator of this cancer are a lump in the breast, swelling, sensitivity in the nipple or breast, redness in the breast, etc. The average age of women to develop invasive dual carcinoma is fifty-years of age. This can also occur in men, but is not as common.
Both men and women are prone to breast cancer and because of these negative mutations caused by BRCA1 and BRCA2, they are susceptible to various other cancers too. Women increase their risk of ovarian and fallopian tube cancer, whereas men increase their sick of prostate cancer and pancreatic cancer. No clear data is present as to why but a study to investigate these genes thoroughly researched about negative mutations. “The outcome of this study is the increase in current knowledge of the genetic variations that results in the development and/or progression of inherited breast cancer, aid in the management of individuals with breast cancers by providing a more specific diagnosis of disease risk and provide information required for the development of personalized treatment” (Wong-Brown, 2012).
BRCA1and BRCA2 hold importance with DNA repairment. BRCA1 produces a protein product consisting of 1863 amino acids. The role of BRCA1 in DNA repair is very crucial as no other protein is similar to this gene. Similarly, BRCA2 generates a protein product of 3418 amino acids. BRCA2 also plays a critical role with DNA repair, especially during transcription. However, a controversy is present in BRCA1. There is an uncertainty about the subcellular distribution.
Due to the increased awareness of breast cancer, an effective way of being precautious is doing genetic testing There are specific tests that look only for these damaging gene mutations and others that check for all of the various gene mutations. To complete these tests, DNA is an important component which is retrieved either from blood or saliva. Genetic counselors suggest that it is wise to get these tests done when these cancers and mutations are present in the family. These genetics tests reveal either a positive or negative result.
A positive result concludes that an inheritance of the BRCA1 or BRCA2 is present in that individual and has higher chance of passing this mutation to their offspring. The chance of their offspring also receiving this mutation is fifty percent. A negative result is more strenuous to decipher because it relies on the family history. A true, negative result is when an individual does not have the dangerous mutation that holds the risk to breast cancer. Thus, concluding this mutation will not be passed to the next generation of the individual family. Most cases, these tests come out accurate, but there are cases where an error can be present. Also new discoveries of BRCA1 and BRCA2 mutations are still occurring.
To manage the risk of breast cancer, predominantly women are now doing enhanced screening. Once these women have discovered they carry BRCA1 and BRCA2 mutations meet with their gynecologist to undergo a breast examination. These women vary around the age of twenty-five to thirty-five years. A mammogram can also be conducted, which is an x-ray of the breast. Physicians are also now recommending for patients to have mammograms as they help in receiving more accurate results. These are especially beneficial for young women in order to deduce tumors.
However, mammograms can detect certain types of breast cancers that are unavailable to retrieve by an MRI. There is a detailed calculation on how the stage numbers are determined. These are based on clinical characteristics, known as T, N, and M. T is the cancer size, N is the concern of the spread of cancer towards the lymph nodes, and M is whether cancer it has been expanded to other body parts. This is the general guideline to which there are more specific characteristics.
Breast cancer also varies in how aggressive the tumor has been spread, which is characterized by the level of stages. This is determined by scale of zero to four. Stage four is the when the cancer has expanded from the breast to other body parts and stage zero is when the cancer is within the breast tissue only.
The varying number of breast cancer stage each has a significance. In stage zero, there is an uncertainty if the cancer cells are spreading to the breast tissue. In stage one, the cancer cells have entered the breast tissue and a tumor could be present. This is broken down into two separate categories, stage IA and IB. Similarly, stage two also has these subcategories. In stage IIA, there is no tumor is present and the cancer has spread to the lymph nodes.
However, in stage IIB, the tumor is present and the cancer has not reached to the lymph nodes. Stage three is more descriptive as it has three subcategories, IIIA, IIIB, and IIIC. All subcategories measure the presence of tumor, positivity to estrogen and progesterone, and the spread of the cancer to the lymph nodes. Stage IV, is the advanced and aggressive stage. This is when the cancer has spread to other body parts beyond the breast tissue, such as the lungs, bones, liver, etc.
Further awareness and precautions are now broadcasted by numerous organizations. The well-known and established American Cancer Society suggests that women should complete an annual screening. These screening should consist of a MRI alongside a mammogram. They also recommend that individuals with the risk of these mutations be precautious with a close interaction with radiation, which is included in x-rays and mammograms. Screenings are also advised for men as well in regards to breast and prostate cancer.
For an aggressive risk-reducing treatment, prophylactic surgery is available. In this surgery, tissue is removed from the breast which is considered at risk. Another option is to remove both breasts, which is called a bilateral prophylactic mastectomy. This surgery is more common by women to undergo as there is no evidence that this can help reduce the chance of breast cancer in men, rather it is considered as an experiment. Surgery is only a means to reduce the risk of breast cancer and it does not eradicate the chance of developing it. There have been cases where women develop breast cancer even after the bilateral prophylactic mastectomy.
However, research has concluded that there is a fifty-six percent reduced percentage of dying from breast cancer after this surgery. Medication is also a common treatment to reduce the risk of breast cancer, which is known as chemoprevention. The two FDA approved drugs that are provided by oncologists are tamoxifen and raloxifene. This is the alternate option for women who cannot or choose not to experience the surgical procedure. A study completed to discover if tamoxifen helped in the treatment of breast cancer stated, “this study provides evidence that tamoxifen use is associated with a reduction in CBC risk for BRCA1 and BRCA2 mutation carriers” (Oncol, 2013). Therefore, doctors prescribe tamoxifen more in comparison to raloxifene.
Once a breast cancer treatment has been completed and the patient has overcome it, there is still a high chance of it coming back. Oncologists will ask their patients to come every couple of months initially to be precautious. They will also require a mammogram to be done every six months after the course of radiation and surgery. “The chance of local recurrence in five years is about six percent” (Carlson, 2014). This is when the cancer is not contained in the lymph nodes.
One of the most common types of cancer, breast cancer, is diagnosed primarily in women and some men. The causes of breast cancer are unclear, but genetics play a key role. Specifically, the genetic mutations which are the genes BRCA1 and BRCA2. These genes are present throughout the study of breast cancer as they act as a tumor suppressor and produce proteins. Numerous signs can display the occurrence of breast cancer, such as breast sensitivity, change in the breast appearance, and redness in the skins surrounding the breast. Because of the widespread awareness and increased amount of precautions, the amount of death due to breast cancer has decreased. Progressive treatments are now been used by oncologists to help eradicate the cancer.