Sanaya was going for her regular annual checkup. She has been in good health and had few to no issues to this point. During her conversation with her gynaecologists, she was asked about her family’s medical history. She told the gynae that there were no medical issues from her mother’s side, but one of her paternal aunts succumbed to breast cancer in her 30s. The gynaecologist discussed with her several types of clinical screenings that she could opt for along with Breast Cancer Gene Test.
Since her aunt was no more, she pondered whether she should go for BRCA Screening. Sanaya discussed the information with her family & her father agreed to talk to the counsellor / doctor. After long consideration, both Sanaya and her father got screened for BRCA genes. Unfortunately, both father and daughter were found to carry the same mutation.
It means that both Sanaya and her father had a high-risk probability of developing cancer later in their life. A genetic counsellor advised them to take certain precautions concerning their lifestyle to delay or prevent cancer. With regular clinical screenings during their lifetime, if a cancer developed, it could be detected early. Early detection would ensure early treatment. Also, any close relatives were advised to go for Breast Cancer Gene Test to confirm the same mutation.
Several genes have been associated with breast cancer. But the most common genes are BRCA1 and BRCA2. You can get the mutations from either your father’s or mother’s side. To give you a sign of the estimate:
- 12% is the risk rate that women possess for breast cancer without a BRCA mutation.
- 70% is the risk of developing cancer if you have such mutations.
That’s such a higher probability of getting cancer. Screening for Genetic Disorders helps in knowing the probability of such a predisposition to breast cancer. So, let’s find out how BRCA genetic testing can help you prevent cancer.
The Role of BRCA Genes
Genes inside the cell of each body are a blueprint coding system for the proteins that your body develops. Each of your cells comprises two copies of each BRCA gene (BRCA1 and BRCA2)— one comes from your side, and the other is from your father.
You may be surprised to know that normal BRCA genes code for proteins that help in preventing the growth of tumours such as breast cancer and ovarian cancer. BRCA genes are also known as Tumor-suppressor genes. The breast Cancer Gene Test helps in finding any mutations in these genes.
BRCA Genes Mutations
BRCA mutations are errors in two genes in the human body. Women who inherit mutations in these two genes possess an increased risk of breast cancer, ovarian cancer, and other types of cancer. Therefore, screening for Genetic Disorders indicates whether you are genetically predisposed to cancer, but it does not mean that you may definitely develop cancer in future.
In order for cancer to occur, your other copies of genes need to undergo mutation. This will make your DNA repair system inadequate for preventing cancer. For example, if you have one abnormal copy of a BRCA gene (inherited mutation); another mutation may happen in a lifetime which can result in tumor formation. This is known as an acquired mutation.
DNA damage related to the environment, lifestyle factors (like smoking), or even normal metabolic processes in cells can result in acquired mutations. These mutations can occur at any time during a person’s life.
