What Is Hereditary Breast And Ovarian Cancer Syndrome? All About BRCA Mutation And Genetic Testing

Breast Cancer Awareness Month 2023: To reduce the risk of breast or ovarian cancer in future in individuals with positive BRCA genes, the recommendation is risk-reducing surgery or active surveillance

The Breast Cancer Awareness Month is observed in October.

Source : Canva

By Dr. Shiveta Razdan

Breast Cancer Awareness Month 2023: Most of the breast cancers occur by chance and with no known cause. However, 5 to 15% of breast and ovarian cancers occur due to hereditary breast and ovarian genes and the most common pathogenic variant or harmful mutated gene is due to breast cancer susceptibility gene (BRCA) 1 and breast cancer susceptibility gene (BRCA) 2. Some rare varieties of hereditary breast cancers can be due to mutation in genes like TP53 (Li-Fraumeni syndrome), PTEN (Cowden’s syndrome), PALB2, CHEK2, ATM, STK11, and CDH1.

A person (female or male) with a proven BRCA gene in the family or when there are multiple cases of breast, ovarian, pancreatic, melanoma and prostate cancer on the same side of the family, should undergo genetic counselling followed by testing which is a simple blood test or a cheek swab. There are a few more indications of doing genetic testing like breast cancer occurring in age less than 45 years, male breast cancer, women diagnosed with second breast cancer or women with both breast and ovarian cancer.

To reduce the risk of breast or ovarian cancer in future in individuals with positive BRCA genes, the general recommendation is risk-reducing surgery or active surveillance. Risk-reducing surgery includes prophylactic bilateral mastectomy which is the removal of both breasts and prophylactic salpingectomy which is the removal of both ovaries and fallopian tubes. Risk-reducing surgery decreases the risk of breast and ovarian cancer by 90% and surgery is advised when one has completed her family. For active surveillance, monthly self-breast examination starting from the age of 18 years and clinical breast examination starting from the age of 25 years, every 6 to 12 months. Annual imaging in the form of an MRI breast should be started from the age of 25 to 29 years. For 30 years onwards, annual mammogram and MRI breast needs to be done till the age of 75 years.

There are some chemo-preventive medications, which can be given to BRCA-positive patients but haven’t been found to be very effective in preventing breast cancer. There are no screening guidelines for ovarian cancer detection, but CA 125 and pelvic ultrasonography can be done on a regular basis if risk-reducing bilateral salpingoophorectomy is not performed.

For males having BRCA 1 or 2 mutation, the general recommendation is to do a self-breast examination starting from the age of 35 years with an annual clinical check-up. An annual mammogram is not routinely recommended for male BRCA 1 or 2 carriers.

Not everyone with the BRCA gene variant develops breast or ovarian cancer but it may be difficult to cope up with the uncertainty of high cancer risk. Discussing all your options with a specialist will help you to make a personalised decision for your health.

The author is a consultant at 

Dept of Breast Oncology

Amrita Hospital, Faridabad