BRCA Gene Testing

BRCA Gene Testing

Subject – Science and Tech

Context – BRCA gene testing is important for reducing cancer risk in women

Concept –

• The BRCA gene test is a blood test that’s done to determine if you have changes (mutations) in your DNA that increase the risk of breast cancer.
• Mutations in either breast cancer gene — BRCA1 or BRCA2 — significantly increase the risk of breast cancer.
  • Everyone has two copies of each of these genes—one copy inherited from each parent.
• BRCA 1 and an unrelated BRCA 2 are proteins associated with breast tissues which help repair damaged DNA or destroy cells if the damaged DNA cannot be repaired.
• They are thus tumour suppressor or caretaker genes.
• But if BRCA itself has undergone a mutation, it loses the ability to repair DNA. This increases the susceptibility of the carrier of the mutant gene to breast and other cancers, notably ovarian cancer.
• Women with abnormal BRCA 1 or BRCA 2 genes have up to 80 per cent risk of developing breast cancer by age 90 and women with BRCA 1 mutations have up to 55 per cent risk of developing ovarian cancer.
• Scientists had long suspected that some cancers are inherited, especially breast and ovarian cancer.
• The discovery of BRCA mutations is of recent origin, starting in 1990. Testing for BRCA mutations became possible in 1994.
• While BRCA mutations are primarily associated with breast and ovarian cancer, there is some evidence of their role in other cancers, especially in the abdominal and thoracic cavities. Women linked to the BRCA mutation have considerably elevated risk of pancreatic cancer.
• If BRCA mutation is tested positive for breast cancer, regular breast self-examination must start at the age of 18.