Patient's Query
Hello Doctor,
I recently had genetic testing because there is a strong history of breast cancer in my family. The results showed that I have a BRCA1 mutation. I am 30 years old and have not had children yet, but now I feel pressure to make important decisions quickly. Should I think about freezing my eggs before I do any preventive treatments, like surgery? If I still want to have children, when should I start thinking about having a mastectomy or having my ovaries removed?
If I remove my ovaries, will that cause early menopause? How would that affect my long-term health and my chances of having children in the future? Are there any birth control methods that are safer for someone with this genetic risk? Also, should my sisters or even my daughter be tested for the BRCA1 mutation too?
Kindly help.
Hello,
Welcome to icliniq.com.
I understand your concern.
The risk of developing breast and ovarian cancer is much higher in people who have inherited a harmful change in the BRCA1 (breast cancer gene 1) or BRCA2 gene. For female breast cancer, more than 60 out of 100 women with a BRCA1 or BRCA2 mutation will develop breast cancer in their lifetime. In comparison, about 13 out of 100 women in the general population will develop breast cancer.
Women with a BRCA1 or BRCA2 mutation who have already had breast cancer are also more likely to develop cancer in the opposite breast later on. About 30 to 40 out of 100 women with a BRCA1 mutation, and 25 out of 100 with a BRCA2 mutation, will get cancer in the other breast within 20 years. This is much higher than the general population, where the risk is about 8 out of 100. For male breast cancer, about 0.2 to 1.2 out of 100 men with a BRCA1 mutation and 1.8 to 7.1 out of 100 men with a BRCA2 mutation will develop breast cancer by age 70. In the general population, the risk for men is about 0.1 out of 100.
For ovarian cancer, about 20 to 50 out of 100 women with a BRCA1 mutation and 10 to 20 out of 100 women with a BRCA2 mutation will develop ovarian cancer in their lifetime. This includes cancers of the ovaries, fallopian tubes, and the lining of the abdomen. In the general population, about 1 out of 100 women will develop ovarian cancer. Other cancers linked to harmful BRCA1 and BRCA2 mutations can include pancreatic cancer, prostate cancer, and melanoma, although the risks are lower compared to breast and ovarian cancer.
You should not take ovarian removal (oophorectomy) lightly, but it is important to know that the lifetime risk of ovarian cancer with a BRCA1 mutation is between 20 and 50 out of 100 women. With a BRCA2 mutation, the risk is between 10 and 20 out of 100 women.
Management:
You should consult a general surgeon for a complete evaluation and plan for managing your risk.
If you are married or planning to have children, it is important to complete your family as early as possible. You should see a fertility specialist to discuss options like egg freezing or planning for pregnancy soon.
A mastectomy (surgery to remove the breast) can be safely done during the second or third trimester of pregnancy.
Chemotherapy can also be given during the second or third trimester of pregnancy if needed.
You and your family members should be screened regularly for breast and cervical cancer. Genetic testing may be recommended for your sisters or daughter so they can understand their risks and take steps for prevention or early detection.
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. Ali Osman
Medically reviewed byiCliniq medical review team
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