It is well known that breast cancer is a serious and widespread disease that affects as many as 200,000 women a year. What is not commonly known is that as much as 20% of these cancers are genetic. If the proper testing is done and the patient is correctly identified, the cancer can possibly be prevented. Unfortunately, a great deal of misinformation and misunderstanding exists concerning the testing. Specifically, BRCA-1 and BRCA-2 are the genes which can lead to hereditary breast and ovarian cancer (HBOC).
This genetic defect is so common that about 1 in 400 people have the mutation and Ashkenazi Jews have a 1 in 40 chance of having the gene. If the gene is positive, breast cancer risk increases to 87% and ovarian cancer increases to 44%. This is not a test for cancer, but rather, it tests for a mutation which increases the cancer risk. Men and women are equally at risk. If a man has the mutation then his chance of chest wall cancer increases to 10% and his prostate cancer risk increases to 20%. The gene is passed from either side of the family and a careful history is the first step in identifying the need to test.
People with cancer or those with a strong family history should have the test. If a woman has breast cancer and her gene is positive then she has a significant chance of getting a second cancer, either in the other breast or in the ovaries. Any person who has a member of the family with breast cancer before age 50, ovarian cancer at any age, two or more breast cancers in the family at any age, any male with breast cancer or an Ashkenazi Jew with breast cancer in the family at any age should all consider genetic testing. The test itself is a simple tube of blood that is processed in the lab. A majority of insurance companies will completely cover the testing.
It is fairly easy to identify who should be tested but it is much harder to decide what to do with the results. The first step is to aggressively screen the breasts with mammograms and MRI’s alternating every 6 months, but no good screening tool exists for the ovaries. The transvaginal ultrasound and CA-125 blood test will not predict cancer or diagnose it early. Tamoxifen has been shown to slightly decrease breast cancer risk. The most definitive treatment is the hardest and certainly most emotional. Removal of both breasts and ovaries will definitely decrease cancer risk to an almost negligible level. This needs to be a well thought out decision and one that the patient is completely comfortable with. Weighing an 87% chance of cancer versus surgery is a challenging decision that should be made with the help of physicians and counselors. Regardless of the decision that needs to be made, it still does not eliminate the importance of screening and testing appropriately. Only a handful of doctors understand and routinely test for genetics. Any person who is concerned should seek appropriate physicians who are well versed in genetic testing.