Patient's Query
Hello doctor,
I am a 35-year-old woman with a strong family history of breast cancer. My grandmother and aunt both passed away from the disease and now I am terrified. I am considering genetic testing but feel scared about what the results might reveal. How accurate are genetic tests for detecting BRCA mutations? What should I do if I test positive for BRCA genes? Can you explain the preventive measures available for someone at high risk?
The uncertainty is overwhelming. I am deeply worried about my health and the possibility of passing genetic risks to my children. What screening protocols would you recommend for someone like me? Also, how can I mentally prepare for the potential emotional impact of the results? I would appreciate your guidance in understanding my options and navigating this situation.
Kindly help.
Hello,
Welcome to icliniq.com.
I can understand your concern.
Breast cancer screening options include mammography (digital or 3-dimensional), clinical breast examination (CBE) performed by a healthcare professional, and magnetic resonance imaging (MRI) for high-risk patients. While breast self-examination (BSE) alone is not recommended as a screening method due to higher rates of unnecessary biopsies, being familiar with breast changes is still valuable. Preventive care involves consultation with a multidisciplinary team (MDT), including a consultant breast surgeon, medical oncologist, radiologist, and histopathologist, to develop a personalized care plan.
If invasive carcinoma is diagnosed, assessing tumor markers like estrogen receptor (ER) and progesterone receptor (PR) positivity, along with human epidermal growth factor receptor 2 (HER2/neu) negativity, helps guide treatment and indicates a favorable prognosis. Staging breast cancer involves evaluating axillary lymph nodes and detecting distant metastases, often using positron emission tomography-computed tomography (PET-CT). Treatment may include neoadjuvant chemotherapy (six cycles over three to four months), hormonal therapy, and either breast-conserving surgery with radiation or a mastectomy with axillary lymph node clearance, depending on the stage.
I hope this helps you.
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Answered byDr. Ali Osman
Medically reviewed byiCliniq medical review team
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