BRCA Gene Mutation – UPSC Prelims

What are 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 tumour suppressor or caretaker genes.
  • However, in some people, these tumour 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 gynaecologists.
  • Regular check-ups 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 tamoxifen (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
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