Angelina Jolie, the famous mother of six and wife to every female’s dreamboat husband Brad Pitt, recently revealed her decision to go under the knife for a preventative double mastectomy in a piece for The New York Times. Angelina had not been diagnosed with cancer, but her 87% chance of developing the deadly disease was enough for her to take action now to protect not only herself, but her family.
There have been plenty of other celebrity women who have undergone the surgery after being informed that they had breast cancer, but a significant discovery made by a Washington doctor forever changed the way women were able to deal with the disease, providing the opportunity to know their risk ahead of a diagnosis.
The discovery, made in 1990 by Mary-Claire King, PhD, a University of Washington professor of genome sciences and medicine, identified a mutated gene that allows cancer cells to grow in breasts and ovaries, known as BRCA1. She also discovered that the mutated genes are hereditary, passing from mother to daughter. This discovery led to a second mutated gene, BRCA2, being discovered just four years later.
The knowledge of these specific mutated genes makes it possible for women to undergo testing if their family has a history of breast or ovarian cancer and opt for surgery in order to prevent any issues down the road.
In the wake of Angelina’s public announcement, we would like to take this opportunity to provide some answers to some general questions surrounding breast cancer and the hereditary genes that hold the key to a potential diagnosis.
What are BRCA1 and BRCA2?
The acronym simply stands for Breast Cancer 1 and Breast Cancer 2, according to Stanford Medicine. Both genes are found naturally in women, but the potential for cancer arises when one of those genes is mutated. The roles of the normal genes are to control cell growth and death, but since mutated genes may be incapable of adequately performing their jobs, the risk for developing breast or ovarian cancer increases significantly.
How high is the risk of developing cancer with a mutated gene?
Myriad Genetics, the company that holds the patent for the BRCA1 and BRCA2 genes, states that the risk of women developing cancer when they possess one of these mutated genes may be as high as 87%, which is the number Angelina was quoted by her doctors.
What is the cancer risk in men who carry the mutated gene?
Men are also susceptible to developing breast cancer with these mutated genes, although according to the Cancer Treatment Centers of America, only 1% of all breast cancers occur in men.
How do I know if I carry the mutated BRCA1 or BRCA2 gene?
As Angelina mentioned in her NYT piece, there is testing available to provide women with answers about their cancer risk. However, this testing costs over $3,000 in the U.S. and is only covered by insurance if an immediate family member — a mother or sister — has been diagnosed with the cancer.
Why is testing so expensive?
According to Business Insider, it is currently being argued in the Supreme Court whether companies like Myriad should be able to place a patent on such genes. In so doing, Myriad is claiming a monopoly over the testing of BRCA1 and BRCA2, limiting the opportunity for better and/or cheaper tests for those genes.
Should every woman be tested, just in case?
There really is no need for every womon to be tested, since the mutated genes are almost strictly passed from mother to daughter, but the National Cancer Institute says that testing should be performed first on women already diagnosed with breast or ovarian cancer to determine whether they are affected by either of the mutated genes. If a mutated gene is found, other female family members should consider genetic counseling by a medical professional experienced in cancer genetics before any testing is done in order to assess the risk based on their family history with the disease.
Counseling is cheaper than jumping straight into testing, especially if an individual’s insurance refuses to cover the test, and the risk assessment may reveal a significantly low risk of cancer, therefore allowing the woman to avoid the testing expense altogether.
What are my options if the test results show I am carrying one of the mutated genes?
Angelina opted for a very proactive route by undergoing a double mastectomy, which removes both breasts and the glands in which the cancer would embed itself in the future. According to the National Cancer Institute, other less invasive options include regular screenings such as mammograms to monitor the breast tissue and catch the cancer as soon as possible, or chemoprevention, which involves taking the drugs tamoxifen or raloxifene, both proven to significantly reduce the risk of cancer development in women.
Sources: The New York Times, Seattle Cancer Care Alliance, Stanford Medicine, Myriad Genetics, Cancer Treatment Centers of America, Business Insider
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