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Masciovecchio 1 Jennifer Masciovecchio Dean Grosovsky Pre-Med A Final Paper 13 May 2014 BRCA 1 and BRCA 2 In recent news, Angelina Jolie made the bold to move to get a double mastectomy. This is because it had been determined that she carried the mutated form of the genes that can cause a higher risk in developing breast cancer. Because she had the mutated form of the gene, Jolie had an 87% chance of developing breast cancer. Her bold move raised awareness to the public about the mutated forms of the genes and made people start to question their own, personal risk of developing cancer. This raises many questions for people such as what is the probability of someone developing cancer if they inherit the mutated form of the genes? What is the risk for men who inherit the gene? Are there any other options besides a double mastectomy? The reasoning behind the in-depth analysis of this topic is that anyone could be carrying this gene and it is important to know the probability of developing cancer if the gene is being carried. The major cause of this high risk in developing cancer is due to a gene known as BRCA 1. The official name of BRCA1 gene is breast cancer 1. It belongs to the class of genes known as tumor suppressor genes. This gene helps prevent cells from rapid growth and division in an uncontrolled way. BRCA 1 protein also regulates the activity of other genes and plays a very important role in embryonic development. BRCA1 is located in the arm of chromosome 17 at position 21. It is located from base pair 41,196,311 to base pair 41,277,499 on chromosome 17. BRCA1 and BRCA 2 (a gene similar to BRCA 1) are human genes that produce tumor Masciovecchio 2 suppressor proteins. The main function of these proteins is to help repair damaged DNA. Therefore, it plays a huge role in ensuring the stability of the cell's genetic material. When either of these genes is mutated, or altered, such that the protein is not produced then the repairing of damaged DNA may not take place properly. This causes the cells to divide rapidly or uncontrollably which can allow them to develop more genetic alterations that can lead to cancer. Women who inherit a mutated copy of the BRCA1 gene collect broken and deformed chromosomes. It highly increases the risk of accumulating mutations that will lead to rapid cell growth and cancer. Men who inherit the defective genes are also more likely to develop breast or prostate cancer. The mutated BRCA1 genes are inherited in an autosomal dominant pattern; therefore a child only needs to inherit one copy of the mutated gene to increase the risk of cancer. Children with a parent having a BRCA1 mutation have 50% chance of inheriting the mutation. People inheriting the defective gene might not develop cancer but inheritance greatly increases the risk. Out of every 100 women who inherit a mutated gene, as many as 60 will develop breast cancer by age 50. By age 70, approximately 80 people will develop breast cancer. Men with BRCA1 mutation have an approximately 2% to 3% chance of developing breast cancer by the age of 70. About 80% of women who inherit a harmful BRCA1 mutation will develop cancer by the age of 70. Besides breast cancer, BRCA1 mutation also increases women's risk of developing Fallopian Tube cancer, Ovarian cancer and Peritoneal cancer. Both men and women with BRCA1 mutation may also have high risks of pancreatic cancer. Men who inherit the mutated form of BRCA1 develop an increased risk of several types of cancers such as breast, skin and prostate cancer. Men do have a lower risk for developing cancer then women who carry Masciovecchio 3 BRCA1. They have an approximately 2% to 3% chance of developing breast cancer by the age of 70. Men have a much lower risk of developing breast cancer then women because their breast duct cells are less developed than women and because they have lower levels of female hormones that affect the growth of breast cells. The risk of inheriting BRCA1 is not 100% in men but there is still an increased chance of developing cancer. Although the risk of developing cancer is increased, there are many preventative measures a person can take if they carry the mutated gene. It has been found that the prophylactic double mastectomies have been the most successful treatment and prevention of breast cancer. Patients can also opt to have just a portion of the breast tissue removed. Also a prophylactic salpingo oophorectomy (the removal of ovaries and fallopian tubes) has proven to greatly decrease women's risks of developing ovarian cancer with the mutated gene from 11% to 3%. However, Angelina Jolie had 87% chance of getting breast cancer through this mutation, but for others that percentage might be a lot different. If a person’s risk factor is in the low 3040% than a double mastectomy might be reconsidered. However, many of times the report that records a person’s chance of developing cancer from the mutated gene can be inaccurate. So, the chances of developing breast cancer aren't always necessarily as high as the reports have shown. This may be taken into consideration when deciding what preventative measures to take. For people who have a family history of breast cancer, they should undergo "active Surveillance" for breast cancer. This means that they have to get a mammogram and MRI check up every six months to a year starting at the age of 25. The earlier breast cancer is detected the Masciovecchio 4 better the chance of successfully treating it. It is definitely important to take preventative measures long before a problem has even occurred. Studies have shown that MRI may be less specific and could lead to more false-positive results. Also, it can only screen certain types of breast cancer; it has been found to be more sensitive than a mammogram. Men with BRCA 1 or 2 mutations should also get regular screening as well as testing for prostate cancer. New studies showed that medication such as Tamoxifen and Raloxifene, which are medications that act as estrogen blockers, can reduce the risk of breast cancer by 40% to 50% especially if you carry the mutated genes. However, this drug can increase the risk of blood clots and uterine cancer. Further testing is needed in identifying the benefit and harm of using this drug. It is encouraged that women at high risk should limit their consumption of alcohol, eat a low-fat diet, engage in regular exercise, and avoid menopausal hormone use. These lifestyle recommendations do not have enough data collected to completely support their effectiveness, but it has shown in most situations to reduce the over-all risk of developing cancer. All in all, Women and Men have an increased risk of developing cancer if they display the mutated form of the BRCA1 or BRCA2 genes. Most women have a 60-80% chance of developing breast cancer while men have a 2-3% of developing it with carrying the mutations. The Mutated BRCA genes also increase the risk of Prostate cancer in men and Ovarian cancer, Fallopian Tube cancer, and Peritoneal cancer in women. However, regular screenings and consistent checkups and more drastic measures such as prophylactic surgeries and chemotherapy prevention can help decrease the risks of developing cancer. Unfortunately, there is no definite way to completely prevent or cure cancer. The more radical surgeries such as the mastectomy Masciovecchio 5 and the oophorectomy have worked as great reduction factors for developing cancer for people who carry the gene. The oophorectomy decreases chances of dying of Ovarian cancer by 80% and the double mastectomy decreases chance of death from Breast cancer by 50%.