Genetic testing can determine the risk for inheriting breast and ovarian cancer in women. This article discusses the significance of this procedure.
Breast cancer is the most common type of cancer amongst women and one of the leading causes of deaths worldwide. Every year, close to 200,000 women are diagnosed with this condition. It is a well established fact that some people are genetically predisposed to developing some form of cancer. However, only 10% of breast cancer cases are a result of inheritance while others are due to other factors. Nonetheless, a knowledge of your genetic makeup can help in determining if you are at an elevated risk of developing this condition.
What is it?
While all women carry a certain amount of risk for developing breast and ovarian cancer, women with mutations in certain genes are at an increased risk of developing such conditions. Scientists have identified these genes as BRCA 1 and BRCA 2. So far, two mutations in BRCA 1 and one mutation in BRCA 2 gene has been identified. Not everyone carries these mutated genes but some are more susceptible of carrying them. For example, women of Ashkenazi Jewish descent have the highest incidence of carrying these genes.
A genetic test analyzes the genetic pedigree of a person. An educated guess is made regarding the incidence of cancer in the family and high risk members. An actual blood test is performed to detect the presence of BRCA 1 and BRCA 2 gene mutation. The test is not advisable to women with an average risk of cancer. However, women with known predisposition for this condition should get a genetic testing done. Given below are the conditions in which one should consider taking up this test.
- First degree relative (parent, sibling, children) diagnosed with breast or ovarian cancer at premenopausal age.
- Two or more members in the family with breast cancer,ovarian cancer, or both.
- Family member with a positive genetic test for breast cancer.
- Your own history of breast cancer (most importantly bilateral breast cancer) or ovarian cancer.
- Abnormal breast tissue biopsy in the past.
Test result interpretation is done by an oncologist. A positive result signifies that you have the mutated genes. If a family member tested positive and your test result for the same is negative, then you have an average risk of developing this condition. However, a negative result needs to be dealt with caution as there could be other genes that might still put you at a higher risk of developing cancer.
Those with a positive test results are counseled regarding various prophylactic and treatment options. Your age and the age of your family members when they were diagnosed with cancer is taken into account while deciding a prophylactic course. An informed decision about lifestyle changes can be made during a session with an expert.
Some women may opt for prophylactic surgeries like mastectomy (removal of healthy breast) or oophorectomy (removal of healthy ovaries). Prophylactic surgeries do not completely protect you from the risk of cancer and one must note that irrespective of a positive result, there is still a 10 to 15% chance that you won’t develop this condition.
Its Pros and Cons
Although, it is always better to be well informed about your lineage and the risk for cancer, a decision to take this test should be made carefully. Check if you and your family can cope emotionally and financially, should the test come positive. A positive result may also strain relationships, while a negative result can unnecessarily make you relaxed in spite of carrying average amount of risk for the disease.
Some women may get anxious over the credibility of the test result. The cost for genetic testing is pretty high and ranges from $200 – $2,000. Also, the test results take weeks to show up. Although the test completely protects your privacy, there have been incidences where individuals who tested positive were denied insurance coverage.
Thus, one must consider all the pros and cons before going in for genetic testing. Also remember that a counseling session is as much important as the test itself.