However, these genes can be changed, whether through mutation or some other alteration. When that happens, they do not function correctly, may stop producing suppressor proteins and eventually may facilitate cancer development in the body.
While gene study is still in relatively early stages, we now know that specific inherited mutations in BRCA1 and BRCA2 can lead to certain types of cancers, including breast and ovarian.
The Odds Are Stacked
It is estimated that BRCA1 and BRCA2 mutations may cause as many as 25 percent of breast cancers that develop from inherited genes and as much as 10 percent of all other breast cancers, according to Cancer.gov. It is also believed to account for roughly 15 percent of the entire range of ovarian cancer. Moreover, it is believed that both breast and ovarian cancers associated with mutations of BRCA1 and BRCA2 develop far earlier than other forms of cancer, particularly cancers that are not inherited.
You can inherit a BRCA1 or BRCA2 mutation from either your father or mother. If you are the child of a parent who carries the potential for a mutation in these genes, you have a one in two chance of experiencing it yourself at some point in your life.
If you are a woman who has been identified as a bearer of the BRCA1 or BRCA2 gene mutation, it is estimated that you are one of roughly 12 percent of the overall female population that will develop breast cancer at some point. The percentages on those odds differ as to which gene is affected, although even having a healthy one is no guarantee against developing cancer.
If you have a mutated BRCA1, you have as much as a 65 percent chance of developing breast cancer. If you have a BRCA2 mutation, it’s about a 45 percent chance.
Ovarian cancer rates are different for the gene mutations. It’s estimated that just 1.3 percent of women will get ovarian cancer during their lifetimes. But if you have a BRCA1 mutation, you can have as much as a 39 percent chance of developing the disease. Those with a BRCA2 mutation have as much as a 17 percent chance of developing ovarian cancer.
These are estimates based on the genetic research that has been done to date, and it’s cautioned that no long-term studies have been done to differentiate women with cancer from those who develop cancer because of mutated BRCA1 or BRCA2 mutations. It is possible the information could change.
There are other factors that play an important role in determining the odds of a woman developing cancer. A family history that includes ovarian cancer or breast cancer, the type of BRCA1 and BRCA2 mutations that occur, the woman's reproductive history and even the patient's previous medical history all can play a role.
Other Disease Risks
BRCA1 and BRCA2 mutations may cause fallopian tube and peritoneal cancer and pancreatic cancer. Men also can develop breast cancer, and children are susceptible to myeloid leukemia from gene mutations.
Genetic testing is recommended if you fall into certain categories perceived as high risk. If you are of Ashkenazi Jewish descent, you are likely to have a higher incidence of BRCA1 and BRCA2 mutations in your family history when compared to the general population. Those from Dutch, Norwegian and Icelandic backgrounds also seem to have a predisposition to certain BRCA1 and BRCA2 genetic changes. Additionally, there have been cases of BRCA1 and BRCA2 mutations that target specific racial and ethnic groups, including Asian-Americans, Latinos and African-Americans.
If you are concerned that you may develop BRCA1 and BRCA2 mutations, it’s wise to talk to your medical professional. Among the people who should be most concerned are those who have developed cancer in both breasts; those who have a family history of breast cancer or ovarian cancer, particularly if they struck the same woman; those who developed breast cancer before they turned 50 years old; patients who have developed breast cancer multiple times; and those who have been diagnosed to have relatives with two or more BRCA1 or BRCA2 cancers in the same family.
Genetic Testing
Fortunately, there are several types of genetic testing available that can help medical professionals keep a close eye on those individuals who are most likely to develop the BRCA1 and BRCA2 mutations. The tests can look for the same type of mutation that has been identified in other family members, and the test can consider which type of mutation may occur in an individual based on variations of the identified mutation. The simple lab test takes about one month to get results.
While looking for bad news that has not yet developed may seem like a hypochondriac position, there are good things about getting genetic testing done early that have nothing to do with the results of your BRCA1 and BRCA2 tests. These are true whether you get a positive or negative result on the gene testings.
First, the good news and sense of relief if you get a negative result cannot be overstated. Particularly if you have a family history, the dark cloud can be lifted from you and your children, and it can settle once and for all whether you need to consider other testing or even radical preventive surgery.
Similarly, a positive test has the benefit of setting a course and lifting the uncertainty that may surround any future decisions. The test results can help you plan ahead for your medical future and potentially gird you for preventative surgery before extreme complications develop. Some patients even see it as a way to benefit humanity by voluntarily participating in research projects.
While positive results are never good news, and certainly your emotions may be affected, not knowing is worse. You may also be encouraging other family members to their potential risk from BRCA1 and BRCA2 by taking a step forward and submitting yourself to genetic testing.
Psychological and genetic counselors are usually available at most facilities or may be available upon request. This will give you an opportunity to ask questions and help you gather information on important future decisions, including the possibilities of hormonal treatments and setting an examination schedule.
Whatever your decision, understanding your options is the best course in any medical situation. Early detection is always the best weapon against cancer, and screening your BRCA1 and BRCA2 genes is a wise choice for anyone concerned about family histories and their own medical situation.