By Ashley Nelson /
[dropcap]K[/dropcap]nowledge is Power. This phrase is rather self-explanatory, and it suggests that the more you know, the more power you have to control certain situations and keep other events from occurring. For 18,000 women (and men) across the nation, this phrase could mean the difference between life and death.
In the last 10 months of my life, I have heard this statement, “I don’t have cancer, but I do have what is called the BRACA Gene mutation,” from both my mother and my sister along with a few other “long-lost” relatives. I must confess that it drives cold sweat down my spine, but exactly do they mean?
What is the BRACA- also known as BRCA- Gene mutation? –According to the U.S. National Library of medicine, BRCA is a gene, more commonly known as a cell, and it has the potential to “mutate” or produce an “abnormally short version of the BRCA 1 protein needed to help repair damaged DNA . . . or fix mutations in any other gene.”
Another variation of the gene is BRCA 2. Its mutation is essentially the same thing. However, as these defects accumulate, they “can trigger cells to grow and divide uncontrollably to form a tumor.”
Any differences between the two? That is, between BRCA1 and BRCA2? Aside from percentages, there is no real difference between the two. Both account for “20-25 percent of hereditary breast cancers and about 5-10 percent of all breast cancers.”
In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall. Women with BRCA1 (breast cancer 1) gene mutations have a 35 to 60 percent chance of developing ovarian cancer in their lifetimes, as compared with 1.6 percent in the general population. At least 5 inherited BRCA 1 gene mutations have been found to increase the risk of prostate cancer. “As for BRCA 2 (breast cancer 2) “12 to 25 percent chance of developing ovarian cancer in their lifetime.”
As for men, “more than 30 inherited BRCA 2 gene mutations have been found to increase the risk of prostate cancer.” [pullquote]One strong reason to be tested is if there is a definitive history of any sort of cancer (primarily breast or ovarian) that runs in your family as this may determine your probability of having the BRCA gene mutation.[/pullquote]
How does this affect you or me? It does not necessarily affect everyone; however, as mentioned previously, everyone has the BRCA 1 and BRCA 2 cells inside of them. We have two of each, one from our mother and one from our father; both are meant to suppress tumors and help repair damaged DNA, but when the cells are abnormally small and not functioning correctly, this is when they can become mutated and genetic testing comes into play.
Why should, where can, or how do I get tested?
One strong reason to be tested is if there is a definitive history of any sort of cancer (primarily breast or ovarian) that runs in your family as this may determine your probability of having the BRCA gene mutation.
Even if there is no clear history of cancer than runs in your family, it is still recommended that genetic testing be done to determine if you are the main carrier of the mutation and how it could affect generations to come.
According to The National Cancer Institute, this type of test is known as a cancer screening, and it allows doctors to find and treat many varieties of cancer early, and is usually performed at a medical facility that has a cancer center.
What is the probability of testing positive or negative? There is really a 50/50 percent change of testing either positive or negative. Keep in mind, a negative result does not eliminate the probability of developing nonhereditary breast cancer. You now stand the same chance as the rest of the population, or you may have a gene mutation the test was unable to detect.
What is the next step if you test positive or negative? If you find yourself with a negative test results, congratulations! You no longer stand the chance of having hereditary breast cancer. However, should you test positive, you should consider seeking genetic counseling to learn more about your options and having preventative surgery.
According to the AstraZeneca group of companies “learning that you have a BRCA1/BRCA2 mutation can be an emotional experience because of its hereditary implications. It can also provide information to help you and your healthcare provider make decisions about treatment options.”
What is life like after surgery? Not necessarily frightening! Ask Angelina Jolie for inspiration, perhaps.
As reported by The New York Times, Angelina Jolie said, “I can tell my children that they don’t need to fear they will lose me to breast cancer.”
“I made a strong choice that in no way diminishes my femininity . . . I know my children will never have to say: Mom died of Ovarian Cancer.”