Should You Be Screened for the Breast Cancer Gene?

There has been a lot of buzz recently about the BRCA1 and BRCA2 gene, also known as the breast cancer gene.  Screening for the breast cancer gene allows patients to know, within a certain percentage, their likelihood of being diagnosed with breast cancer.  If you do have the breast cancer gene, your likelihood of being diagnosed with breast cancer is significantly increased.  But, how do you know if you should be tested for the breast cancer gene?  Perhaps you have a relative that has been diagnosed with breast cancer, does that mean you should be tested?  The National Cancer Institute explains what the BRCA1 and BRCA2 genes are and what they mean, “BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered, such that its protein product is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer. Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers and about 5 to 10 percent of all breast cancers. In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers overall. Breast cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than sporadic breast cancers. A harmful BRCA1 or BRCA2 mutation can be inherited from a person’s mother or father. Each child of a parent who carries a mutation in one of these genes has a 50 percent chance of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a person’s second copy of the gene is normal…About 12 percent of women in the general population will develop breast cancer sometime during their lives. By contrast, according to the most recent estimates, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years.”  Genetic testing can sound overwhelming to some, but it can also offer a lot of insight about your personal health and open more doors in terms of prevention and treatment, when it comes to cancer.

Not everyone needs to run out and get genetic testing done to see if they have the breast cancer gene.  Certain people are in higher risk groups, such as people with known family history of breast cancer.  Before you decide to have genetic testing, you need to decide what you goals are for testing and what you hope to accomplish with the knowledge of testing.   You also need to determine if you are prepared for whatever results may come and if you and your family could handle coping with the knowledge of positive results.  Harvard Health Publications discusses who exactly should consider genetic testing for the breast cancer gene, “The only women who should consider it are those whose family history suggests a heightened risk. That includes having a mother, sister, or daughter with breast cancer, or a grandmother, aunt, niece, or half-sister who developed breast cancer before age 40. A personal history of breast or ovarian cancer before age 40, particularly if you’re of Jewish ancestry, may also prompt you to consider testing. Risk is also heightened if you have two or more first- or second-degree relatives in a single bloodline with breast cancer or breast and ovarian cancers; a family member with cancer in both breasts, or both breast and ovarian cancer; a male family member with breast cancer; or Ashkenazi Jewish ancestry.

If you fall into any of these groups, you need to carefully weigh the pros and cons of testing with your doctor or a genetic counselor. It’s a simple blood test, but interpreting the results and coping with them can be very difficult… You need to think in advance about what you’re willing to do if you test positive. Most women will want to follow a schedule of semiannual or annual clinical breast exams and mammograms, starting at age 25–35. But fewer women are willing to consider prophylactic mastectomy, which markedly reduces risk in women with positive BRCA1 and BRCA2 tests.”  If you have concerns or are wondering whether or not you are a good candidate for genetic testing, consult your physician to discuss your options.

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