Should I get genetic testing beyond BRCA for cancer risk?

Question

Hello doctor,

I am a 35-year-old female. My mom had breast cancer at 45, and her sister had ovarian cancer. I am BRCA1-negative but was told about expanded genetic panels. My CA-125 level is 11 U/mL, and my AMH level is 2.8 ng/mL.

Should I consider genome testing beyond BRCA?
How does this inform preemptive steps for women who want kids?

Kindly advise.

Answer 1

Hello,

Welcome to icliniq.com.

I understand that you are concerned about your family history of breast and ovarian cancer, and it is great that you are being proactive about your health. Even though you are BRCA1 (breast cancer gene)-negative, considering expanded genetic testing beyond just BRCA1 could be a wise step. Other genetic mutations, such as BRCA2, PALB2 (partner and localizer of BRCA2), or Lynch syndrome, can also contribute to increased cancer risk. These tests can provide more comprehensive information about your genetic predispositions.

As for your CA (cancer antigen)-125 and AMH (anti-müllerian hormone) levels, they are useful markers in assessing ovarian health, but CA-125 is more commonly used to monitor ovarian cancer rather than assess risk directly, especially in individuals without symptoms. Your AMH level of 2.8 ng/mL (nanograms per milliliter) suggests that your ovarian reserve is within a normal range, which is helpful when considering fertility options.

For women who want to have children and are concerned about genetic risks, consulting with a genetic counselor might also be beneficial to discuss preemptive measures, including egg freezing, if necessary.

I would recommend discussing genetic testing options with your healthcare provider, who may also suggest meeting with a genetic counselor to understand all available tests and their implications for your fertility and health.

I hope you are satisfied with my answer.

For further queries, you can consult me at iCliniq.