“Genetic testing for BRCA mutations is recommended for women with a strong family history of breast cancer”
Genetic testing for BRCA mutations is recommended for women and men with a strong family history of breast /ovarian/ prostate cancer after genetic counselling. ‘Hospitals’ magazine met Deborah Mukherji, MD, MBBS, FRCP, Consultant Medical Oncologist at CMC Dubai, and talked about the role of BRCA gene in cancer and who is recommended for BRCA testing, in addition to the importance of awareness and early detection.
Let’s start the interview by talking about the awareness and its role in early detection. Do you think campaigns achieved the goal?
Spreading the message about breast cancer awareness in the community is the most valuable strategy to improve the uptake of screening and improve early detection. Breast cancer is very curable if we diagnose it at an early stage. It has been shown that increasing awareness of breast cancer saves lives through early detection. Increasing awareness of the risk factors for breast cancer is also important, promoting a healthy lifestyle which includes avoiding smoking and alcohol, staying active and maintaining a healthy weight. Being aware of your family history is also important. Women with a family history of breast and ovarian cancer may require screening to start at an earlier age and in some cases genetic testing may be and important to consider.
What are the warning signs? Should a woman wait for of these warning signs? What is your message in the field?
The most important warning sign is a breast lump that is not changing with the monthly cycle. Many women have benign (non-cancerous) breast lumps but it is important that these are checked regularly and in the case of any changes, a biopsy may be recommended to exclude a cancer. Sometimes pre-cancerous changes or small cancers can be detected on a screening mammogram or ultrasound without any lump being felt which is why regular (annual) screening is recommend in women over 40.
What are the advanced screening tests that should be done? And at what age?
Regional guidelines recommend annual screening with mammogram and ultrasound from the age of 40. For women with a family history of breast cancer we often recommend MRI scans in addition to mammograms and ultrasounds.
What is the role of the BRCA gene in cancer?
The BRCA genes are involved in repairing the DNA and we all have them working in every cell in the body. In rare cases, there is a mutation in one of the BRCA genes that can lead to mistakes in the DNA which can lead to different types of cancer (most commonly breast cancer in women and men, ovarian cancer in women and prostate cancer in men). These mutations can be passed down in the family (inherited).
What age should a woman get tested for BRCA gene? Who is recommended for BRCA testing?
Genetic testing for BRCA mutations is recommended for women and men with a strong family history of breast /ovarian/ prostate cancer after genetic counselling. Genetic testing has pros and cons and is not right for everyone so the person considering genetic testing needs to have all the information before going forward with the test.
Genetic testing is also appropriate for some patients with a diagnosis of breast/ovarian/prostate and pancreatic cancer.
What type of breast cancer is associated with BRCA?
Germline (inherited) mutations in BRCA genes can increase the risk of breast, ovarian, prostate, pancreatic and other cancers.
What are the characteristics of BRCA breast cancer?
Breast cancers in women and men with BRCA mutations may occur at an earlier age and are more likely to be “triple negative” which means not responsive to hormone or other specific types of targeted therapy.