Are women more vulnerable to health issues than men? Stress and poor lifestyle—common causes of many diseases, affect both men and women differently. However, many health issues (like breast and ovarian cancer) affect middle-aged women more severely, often triggered by genetics. A WHO report published in 2020 cited 2.3 million active cases and 685,000 female deaths globally caused by breast cancer. Age, obesity, excessive alcohol consumption, radiation exposure, hormonal changes, personal or family history are potential causes that put women at high genetic risk for breast cancer. Advanced techniques (like BRCA1 and BRCA2 gene sequencing) detect genetic mutations (changes in sequence of the genes) to establish the role of heredity in breast cancer.
Women are at a higher genetic risk for breast cancer if any one of their first-degree female relatives (mother, sister, or daughter) is diagnosed with it. Mutations in BRCA (Breast Cancer) genes present in both men and women may easily be inherited (passed across the generations). Under normal conditions, the BRCA genes manufacture proteins to repair damaged DNA during cell division in breast cells. Mutations in any one of these genes may cause abnormal cell growth, thus, causing breast cancer. Genetic testing for cancer detects BRCA gene mutations to confirm the presence of cancer cells.
What if the BRCA1 and BRCA2 gene sequencing test results are positive for an individual?
If one hasn’t developed the signs of breast cancer yet, it means the positively tested individual is more likely to develop the disorder later in life. It’s just a possibility that can’t be neglected. Men, tested positive for BRCA2 mutation are at 7% more risk of developing male breast cancer and are equally vulnerable to prostate cancer. Unfortunately, women are at a higher genetic risk for breast cancer (69-72%) if either their BRCA1 or BRCA2 gene or both are mutated. It’s because their breast cells are susceptible to age-induced hormonal variations (mainly fluctuating progesterone and estrogen levels) in the body. Genetic testing for cancer at an early age can help individuals plan preventive actions.
When to take BRCA1 and BRCA2 gene sequencing tests?
Genetic counselors usually recommend genetic testing for cancer if a person has:
- A personal history of BRCA-associated cancers (including pancreatic and prostate cancer) before the age of 35 to 45,
- More than one case of cancer in blood relatives
- An Eastern European (Ashkenazi Jewish) ancestry
Is genetic testing for cancer safe?
Yes, the BRCA1 and BRCA2 gene sequencing is a safe and reliable blood test prescribed to individuals who’re vulnerable to ovarian or breast cancer. The test is highly accurate, and there are fewer chances of a false positive or false negative test. However, a negative test result doesn’t always negate the possibility of cancer. Sometimes the test may identify gene mutants that even the doctors aren’t certain about. Therefore, genetic counseling is recommended.
Genetic counseling can help individuals understand test results and future risks, how they’ll affect them, determine what genetic tests should be taken, and decide the extent of damage caused. It also helps oncologists prescribe preventive measures, such as:
- Hormone therapy (with prescribed medicines like Raloxifene, Tamoxifen, or Exemestane)
- Surgical removal of one or both breasts (prophylactic mastectomy)
- Surgical removal of ovaries or fallopian tubes (prophylactic salpingo-oophorectomy)
Women above 35 years of age should take an annual mammogram (breast screening) and pelvic examination to lower the risks. If one experiences early signs of breast cancer (nipple retraction, abnormal discharge, dimpling, lump in breasts, etc.), contact a nearby local laboratory to take BRCA1 and BRCA2 gene sequencing tests to be certain.
