Patient's Query
Hello doctor,
I am 39, and my sister was just diagnosed with breast cancer at 41, which has made me extremely anxious since our maternal grandmother also died of ovarian cancer at 55. I am considering genetic testing for BRCA1 and BRCA2 and other cancer genes, but I am torn between wanting to know my risk so I can be proactive versus fear of learning I carry high-risk mutations.
If I test positive for a BRCA mutation, would I need to consider preventive surgeries like mastectomy or ovary removal, and how effective are these drastic measures?
I am also worried whether my teenage daughter should eventually be tested.
What genes should be included in comprehensive cancer genetic testing, and how accurate are these tests in predicting actual cancer risk versus just genetic predisposition?
Kindly help.
Hello,
Welcome to icliniq.com.
I understand your concern.
Regarding the issue of the family’s genetic factor, since your grandmother had ovarian cancer and your sister now has breast cancer, of course, in this case, we prefer that your sister do the BRCA gene test, BRCA1 and BRCA2 (breast cancer gene 2). This, of course, shows us the mutation that happened in the family. If she tests positive, then we also recommend that you do the same test. The second thing is that you can also join clinical trials. You and your sister can do these investigations for free. Of course, if you turn out positive or if you have not had cancer, we have many strategies that we offer to reduce the risk. Not all of them are surgical. Surgery is not our first option. Our first option is active surveillance. Active surveillance means we need to do a check every year. You will undergo a yearly check with magnetic resonance imaging (MRI) of the breast and a check with ultrasound of the abdomen and pelvis to examine the ovaries. We use cancer antigen 125 to check for ovarian cancer. This way, we can avoid any tumors appearing during the year. At that point, we can resort to the hormonal option, which is to give you Tamoxifen as a type of protection so that you do not develop breast cancer. Of course, the hormonal option works in cases of breast risk, but it does not work in cases of ovarian risk.
The third option is the surgical option, which is prophylactic surgery, where we do a bilateral mastectomy and bilateral oophorectomy. Of course, it reduces the risk by 95 percent. Regarding your daughter, we prefer that she reach the age of 25, and if you test positive, we will also do the test for her to make sure. And if she also turns out positive, we will offer her the preventive strategies that are suitable for her and her age.
I hope you are satisfied with my answer. For further queries, you can consult me at iCliniq.
Thank you.
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Answered byDr. Shimaa Abdelatti Osman
Medically reviewed byiCliniq medical review team
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