How to Reduce Breast Cancer Risk When a BRCA Mutation is Present
Women who test positive for harmful BRCA1 or 2 mutations should strongly consider having a screening mammogram performed on a yearly basis, even if they are under the age of 40. Annual comprehensive physical examinations are also a good idea, and other screening methods such as ultrasound or MRI could be substituted for some mammograms if there are concerns about excessive radiation exposure.
While constant vigilance can help women catch breast cancers early, some who have tested positive for BRCA mutation have decided to take the more drastic step of having a prophylactic mastectomy performed. By having their breasts proactively removed before breast cancer ever has the chance to develop, women may be able to save themselves from a lifetime of worry and concern. But needless to say, such an extreme choice is not for everyone.
Other risk factors for breast cancer include obesity, lack of exercise, birth control pills, and hormonal replacement therapy for postmenopausal women. Since these are all connected to voluntary behaviors, women with genetic mutations may be able to improve their odds at least slightly by taking steps to avoid exposure to these other risks.
It has been found that preventative chemotherapy involving the use of the drug tamoxifen, which sabotages the advancement of estrogen-receptor positive breast cancer, can reduce the risk of any breast cancer developing later by 50%. Other chemotherapy drugs are also being studied to see if taking them before breast cancer is ever diagnosed can reduce incidence of the disease in the future.
Life Challenges, but Hope for Life
Women who test positive for BRCA1 or 2 mutations will have some serious decisions about how they want to live their lives. Do they want to have children, for example, knowing that they carry a gene that is likely to be inherited by their offspring? Or if they already have daughters, how do they break the news to them about the risks they may face? Should family and friends be told immediately, or is it better to wait until breast cancer actually develops – if it develops - in the future to begin talking about it with others?
Women with these genetic mutations will face many challenges as time passes; however, it is always important to remember that the survival rate for breast cancers caught in their earliest stages approaches 90%. So ultimately, despite their increased risk of eventually receiving a breast cancer diagnosis, even those who carry mutations in the BRCA genes are facing odds that are actually very much in their favor.
BRCA1 and BRCA2: The Role of Genetic Mutation in Breast Cancer
There is an element of mystery about breast cancer. Even though there are some known risk factors, only a relatively small percentage of women who are affected by those factors will ever be diagnosed with this disease. From a cause and effect standpoint, it is still mostly unclear why some women develop breast cancer at some point in their lives while others do not.
However, there is one risk factor for breast cancer that is not quite so mysterious. In approximately one half of one percent of all people, there is a mutation to one of two genetic markers that can dramatically increase the likelihood of breast cancer eventually being diagnosed – in men as well as in women. These genes are called BRCA1 and BRCA2, and it has been calculated that as many as 60% of all women who have a certain kind of mutation to one or both of them will be diagnosed with breast cancer at least once in their lives. The reason is for this extremely high rate is not surprising to medical researchers, because they know very well why those who have this risk factor are in so much danger from this troubling illness.
When Good Genes Go Bad
Many cells in many locations in the human body have the potential to turn cancerous, under circumstances that are quite unpredictable. Perhaps because of the ubiquity of this threat, genes called tumor suppressors have evolved within the human genetic code. These tumor suppressors help to regulate cellular activity so that sudden uncontrolled growth and division is avoided, and they also help to stifle the activities of other genetic material that can provide unhelpful assistance when cells begin to divide in an abnormal way.
BRCA1 and BRCA2 are tumor-suppressing genes that, like all genes, can become mutated because of copying errors that occur during natural cellular division. Most of the mutations that have been found in these two genes have not been connected with any deterioration of function. However, there are certain genetic mutations, found in .5% of all people that severely compromise the cancer-fighting abilities of these genes. Because these particular tumor suppressors are active in the area of the breast, the chances of a woman who is carrying a mutated BRCA1 or BRCA2 gene developing breast cancer goes from 12% (the established risk for the general population) to 60%, which is a five-fold increase. Without the intervention of these tumor suppressors, the process by which non-cancerous cells can become cancerous is left free to run unchecked.
Harmful BRCA1 and BRCA2 mutations are an inherited condition, which means that a family history of breast cancer can provide a strong indication that such a mutation is present.
Genetic Testing for Mutation
Fortunately, genetic tests have been developed that can detect the particular mutations in BRCA genes that may predispose a woman to developing breast cancer. While anyone can presumably take these tests, generally only women who are considered to be at high risk for carrying a mutation are advised to do so. The strongest indicators that a genetic mutation might be present is a strong family history of breast cancer: if two first degree relatives (sister, daughter, mother) have had breast cancer, or three first or second degree relatives (grandmother, aunt, niece) have been diagnosed with the disease at some point in their lives, this could indicate the presence of a genetic mutation. Incidences of breast cancer in premenopausal relatives in particular could mean a genetic factor is at work. Since BRCA mutations are also associated with an increased risk for ovarian cancer, a family history of this disease can also be a good indicator.
The one ethnic group that has been shown to have a clearly elevated risk for harmful BRCA mutations is the Ashkenazi Jews. About 2.3% of all who belong to this population group carry bad BRCA genes, and for this reason all women who are a part of the Ashkenazi population would be wise to consider genetic testing.
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