Context: The fate of genetic misfortune which see in the form of increased risk of having breast and ovarian cancers in women who have a strong matrilineal family history of the disease.

• In this discussion we discuss about BRCA (Breast Cancer) genes and  “Why BRCA gene testing is important for reducing cancer risk in women” 

About BRCA (Breast Cancer) genes

• These are proteins associated with breast tissues that played a big role in preventing breast cancer. They help repair damaged DNA or destroy cells if the damaged DNA cannot be repaired. Because of this, the BRCA genes are known as tumor suppressor or caretaker genes.
• However, in some people, these tumor suppression genes do not work properly. When a gene becomes altered or broken, it doesn’t function correctly. This is called a gene mutation. So, when BRCA itself undergoes a mutation, it loses the ability to repair DNA.

What are the risks associated with BRCA mutations?

• BRCA mutations are primarily associated with breast and ovarian cancer. However, in some cases, they are also linked with other cancers, especially in the abdominal and thoracic cavities.
• Women with abnormal BRCA 1 or BRCA 2 genes have up to 80 % risk of developing breast cancer by age 90. Women with BRCA 1 mutations have up to 55% risk of developing ovarian cancer. Also, affected women have a high risk of having pancreatic cancer.

What are the preventive strategies women should adapt to prevent BRCA mutations?

• Early screening: Women with a strong matrilineal family history of breast/ovarian cancers should get tested for BRCA mutations after consulting their gynecologists.
• Regular checkups for breast cancer: If BRCA mutation is tested positive for breast cancer, the following steps should be adopted.
• At 18yrs: Regular breast self-examination should start.
• From 25yrs: Clinical examination and risk assessment must be done every 6months-1year. Mammography should also be done on annual basis.
• From 30yrs: Woman with BRCA mutation must get an annual breast MRI.

In SOS cases, Women should go for risk reduction through tamofixen (not chemo, but oestrogen) or risk-reducing surgery (mastectomy).

• For ovarian cancer: Regular use of oral contraceptives should be adopted to avoid any risk.
• Till 30 yrs: Women should consider transvaginal ultrasound and CA-125 blood tests on the basis of family history of the disease.
• Between 35-40 yrs: Women who have had children can choose risk reduction through salpingo-oophorectomy (removal of ovaries and the fallopian tube) on an SOS basis.