Which preventive cancer surgery helps BRCA2 carriers?

Question

Hello doctor,

I am 44 years old, and my younger sister just died from ovarian cancer at age 41, which has made me very worried about my own cancer risk. My oncology genetics counselor recommended cancer genome testing to see if I have BRCA or other mutations.

My sister tested positive for a BRCA2 mutation before she passed away. I already had dense breasts on my last mammogram and have been getting extra screenings. The cancer genome testing came back showing that I also have a BRCA2 mutation, and now I am trying to figure out what to do.

My gynecologist is recommending prophylactic oophorectomy to remove my ovaries to prevent ovarian cancer, but I am not ready for surgical menopause at my age. I am also considering a bilateral mastectomy, but am scared of the surgery and recovery.

My CA-125 level is normal at 18, but I know that is not reliable for early detection. I have two teenage daughters and am worried about their risk, too. Does cancer genome testing show all possible mutations, or should I get a more extensive panel? I am really struggling with the decision about preventive surgeries.

Kindly help.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

I read your query and understood your concern.

I am very sorry and deeply saddened to hear that your sister passed away from ovarian cancer. I truly hope you never have to go through such an experience again.

Regarding what we can do to reduce your risk, your genetic test came back positive, which means there is about a 60 % chance of developing breast cancer and around a 20 % chance of developing ovarian cancer in the future. These are probabilities, but our goal is to lower those chances as much as possible.

I suggest you consider the following:

1. You can continue with close follow-up. That means having a mammogram every year, a breast MRI (magnetic resonance imaging), and checking CA-125 (cancer antigen 125) every six months, along with a pelvic ultrasound to monitor the ovaries.

2. Another option is to remove both the breasts and ovaries, which can reduce the risk of cancer by about 95 %, since the organs are completely removed. This is a very effective option, especially if you have already completed your family and do not plan to have more children.

After surgery, we can provide hormone replacement therapy (HRT) so you can live normally and manage menopausal symptoms. Personally, I think this is a very good option and the best one for long-term prevention.

3. There are also hormonal medicines that can reduce the risk of breast cancer, though unfortunately not ovarian cancer. One common drug is Tamoxifen, which helps lower the chance of developing breast cancer. Currently, there is no medicine that can stop or reduce the risk of developing ovarian cancer.

As mentioned earlier, these are the three main options, and in your case, the surgical option is the most effective overall.

Regarding your daughters, I do not recommend genetic testing before they reach 25 years of age, because before that age, we cannot take preventive action, and their risk of cancer is extremely low. After age 25, they can undergo the BRCA (breast cancer gene) test, and based on the results, we can decide how to manage each case individually.

Regarding the full panel test, you do not need to do this unless you have a family history of other types of cancer, such as uterine cancer or pancreatic cancer.

I hope that this answers your query.

Kindly follow up if you have more doubts.

Thank you.