Patient's Query
Hello doctor,
I was diagnosed with stage 2 invasive ductal breast cancer, and my oncologist recommended genomic testing to guide treatment decisions. My mother had breast cancer at 47 years, my aunt had ovarian cancer at 49 years of age, and my grandmother had breast cancer at 55 years, suggesting a strong hereditary risk.
My pathology showed a tumor 3.6 cm, ER-positive (92%), PR-positive (78%), HER2-negative, Ki-67 38% (high proliferation), grade 3, with 2 of 5 lymph nodes positive (stage 2B). My oncologist mentioned Oncotype DX recurrence score testing and germline genetic testing for BRCA and other mutations.
I want to know:
What is the difference between tumor genomic testing and inherited germline genetic testing?
What does Oncotype DX measure?
Will the results determine if I need chemotherapy or just hormone therapy?
What is a good versus a bad recurrence score?
What score range avoids chemotherapy?
Should I test for BRCA1/2 and other genes?
What if I am BRCA positive?
Should my daughters be tested?
At what age will genetic results affect their insurance?
What is tumor mutational burden?
What about liquid biopsies?
Can genomic testing predict immunotherapy response?
Kindly help.
Answer:
Hello,
Welcome to icliniq.com.
I read your query and understand your concern.
First of all, I am truly sorry to hear about your recent diagnosis with breast cancer. The positive side is that your cancer is at stage II, which means it is a controllable stage, and with proper treatment, the outcome can be very good. At this stage, the preferred approach is to perform a lumpectomy along with a lymph node assessment.
Following surgery, we evaluate the hormone receptor status. Since your hormonal tests came back positive, we recommend hormonal therapy after surgery, and then we will decide whether chemotherapy is required. The Oncotype DX Test is recommended to help determine the need for chemotherapy. We perform a genetic test called Oncotype DX.
This test analyzes the DNA (deoxyribonucleic acid) of the tumor cells to evaluate whether the cancer is aggressive or less aggressive. It examines 20 specific genes to determine the biological behavior of the tumor and provides a recurrence score.
For premenopausal patients with positive lymph nodes, the interpretation is as follows:
A score from 0 to 26 indicates low risk, and in this case, chemotherapy is not needed.
A score above 26 indicates high risk, and chemotherapy is recommended as a protective treatment to reduce recurrence.
The second important test is the BRCA test, which is especially recommended in cases of a strong family history of breast or ovarian cancer, as in your situation. This test is performed on a liquid blood sample, not from the tumor itself. The goal is to check whether the BRCA gene mutation is positive or negative.
If the BRCA test result is positive, the lifetime risk of developing breast cancer increases to 50 to 60 percent, and the risk of ovarian cancer rises to 10 to 20 percent. In this situation, we discuss preventive (risk-reducing) strategies for both breast and ovarian cancer. These options are chosen individually based on each patient’s condition and preference. There are several possible preventive approaches:
Active surveillance: It is an option where regular yearly follow-up with mammography, pelvic ultrasound, and CA-125 blood test is performed to detect any early changes.
Hormonal suppression therapy, like Tamoxifen, is used to protect against breast cancer. However, this does not prevent ovarian cancer.
The last opinion is risk-reducing surgeries, such as bilateral salpingo-oophorectomy (removal of both ovaries and fallopian tubes) and bilateral mastectomy (removal of both breasts). These surgeries can reduce the risk by up to 95 percent.
If your BRCA test is positive, your daughters should undergo BRCA testing once they reach 25 years of age.
If your test is negative, there is no need for them to be tested. In the event any of them test positive, we will discuss personalized prevention plans suited to each one’s circumstances.
We always consider fertility preservation, and there are several medical options available to help balance fertility and cancer protection.
I hope this explanation clarifies your questions, and please do not hesitate to ask any questions at any time.
Wish you good health and safety.
Thank you.
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Answered byDr. Shimaa Abdelatti Osman
Medically reviewed byiCliniq medical review team
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