Getting BRCA1 and BRCA2 Genetic Test in New York
There are two breast cancer susceptibility genes that have been identified-namely BRCA1 and BRCA2. Women and men who have mutations in these genes are at a higher risk for developing breast and ovarian cancer compared to the general population. Today a blood test can identify the presence of a mutation in these genes. However, the BRCA gene test is only offered to individuals who have a family history or a personal history of a specific type of breast cancer.
Overall, inherited BRCA gene mutations are not common and are responsible for about 5% of breast cancers and about 12% of ovarian cancers.
Once a BRCA gene test is done, it can reveal if you are carrying the BRCA gene mutation and also get to know the personal risk of developing ovarian or breast cancer. An important aspect of the BRCA test is to obtain some genetic counseling.
Dr. Gafanovich is ready to extend her help in explaining your options in regards to breast cancer screening.
Who should consider BRCA gene testing?
In general the test is always first done in a family member who has breast or ovarian cancer. If the blood test in this individual does not show BRCA gene mutations, then there is no point in other family members undergoing the test as there is no benefit.
The test is done by withdrawing blood from your vein and sending it to a laboratory. Besides blood, the BRCA gene test can be done using saliva or skin biopsy samples.
Prior to undergoing the BRCA gene test it is important to consult with a NYC internist Dr. Gafanovich to determine if the test is appropriate for you and to determine the limitations, potential risks and benefits.
The results of the test often take 2-3 weeks. Once the results are available you will meet with the genetic counsellor who will go over your treatment options. You should know that there are state and federal laws that will ensure the privacy of your results and protect you from discrimination at work or obtaining health insurance.
A Positive test result usually means that you do have a harmful mutation in one of the BRCA genes and you are at a higher risk for developing ovarian or breast cancer. However, the test does not mean you will immediately develop cancer.
At this point you may take measures to decrease the risk of cancer by:
1) Undergoing more frequent screening tests such as having a physical exam of the breast every 6 months and a mammogram plus an MRI every year. These screening tests do not prevent cancer but help detect the cancer early.
2) Performing monthly breast exams and if any abnormal changes occur, you will be able to detect it earlier than normal.
3) Using surveillance tests for ovarian cancer may include a pelvic exam every 6 months and an annual transvaginal ultrasound. You may also undergo blood work to determine presence of the ovarian cancer antigen CA125.
4) Another option includes use of the birth control pill which has been shown to decrease ovarian cancer.
5) One can take the medication tamoxifen which decreases the risk of breast cancer by almost 50%.
6) The ultimate option is to undergo a preventive mastectomy which lowers the risk of breast cancer by about 90%. In addition, removing the ovary and fallopian tube also decreases risk of breast cancer by about 50% in premenopausal women and decreases risk of ovarian cancer by 90% in both pre and post-menopausal women.
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It is important to understand that preventive surgery does not completely eliminate risk of cancer. If the BRCA gene test is negative one should be aware that this still does not decrease the risk of non-genetic breast cancer. Finally even though the BRCA gene test detects most of the mutations, it is possible that there is novel mutation that may be missed.
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