Introduction:
All the BRCA gene carriers do not show the risk of occurrence of diseases. However, certain gene changes lead to the multiplication of cells, leading to cancer and other diseases. Certain tests can identify changes in genes. Symptoms and signs of certain diseases help in clinically diagnosing the disease. Scans of the affected organ can help in confirming the diagnosis. BRCA is a gene present in every female, and mutated genes in any family member can increase the risk of its presence in the offspring.
What Is BRCA?
The term BRCA is derived from the first two letters of the words breast and cancer. These genes are present in every female. They help in preventing the uncontrolled growth of cancer cells by repairing the mutations.
What Are the Types of BRCA Genes?
BRCA genes are proteins producing genes that help in repairing damaged DNA. There are two types of BRCA genes.
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BRCA gene 1.
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BRCA gene 2.
They are also called tumor suppressor genes. All women have both the genes functioning normally. When these genes undergo mutations, the patient can develop cancer. Inheriting any of the genes can also increase the risk of developing ovarian or breast cancer.
What Are the Diagnostic Methods for BRCA Genes?
Molecular Genetic Testing - It is a method in which the mutated BRCA genes are identified. Following are the results obtained through genetic testing.
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BRCA Gene Mutations Positive - Harmful mutation is seen in the BRCA gene. In a positive case, there is a 50 % chance that the parent carrying the mutated gene passes it on to their children.
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BRCA Gene Mutations Negative - No mutation is seen in the gene.
Understanding the inheritance of the genes is important to understand the risk of developing future cancers.
Can Genetic Testing Be Done at Home?
Genetic testing can be done at home by using the direct-to-consumer genetic test. It can be used to predict the genetic traits and risk of diseases. The results obtained should be discussed with the physician.
Who Are at Risk to Carry Mutated BRCA Genes?
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Offsprings of the BRCA mutated carriers are likely to carry the genes.
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Families whose close relatives are suffering from breast cancer can serve as carriers.
What Are the Other High-Risk Diseases Linked With BRCA Carriers?
High risk diseases can occur in BRCA carriers most of which are cancers.Cells in certain regions of reproductive systems tend to multiply abnormally, causing cancer, such as-
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Breast or ovarian cancer (cancer of the breast and ovaries: an egg-releasing organ in the female).
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Fallopian tube cancer (cancer in the tube connecting the ovaries to the uterus).
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Prostate cancer (cancer of the prostate gland, a male reproductive organ).
Other diseases which can occur in carriers of BRCA genes are the following -
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Primary peritoneal cancer (cancer of the peritoneum: lining of the abdomen organs).
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Pancreatic cancer( cancer present in the cells of the pancreas, a digestive organ).
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Fanconi anemia ( a disease affecting the bone marrow, which is inherited from parents).
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Cardiovascular diseases (diseases related to the heart).
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Diseases which occur because of the early menopause after the surgical removal of ovaries, or after treatments for breast cancer.
BRCA genes are also known to show their effect on the heart's structure.
Who Are Tested for BRCA Genes?
Following categories of individuals need to be tested for the BRCA genes:
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Genetic sequencing can be done for the possible risk of having the harmful mutated gene in patients whose family members or relatives tested positive for the gene.
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A Magnetic resonance imaging (MRI) scan is carried out for patients who show clinical symptoms regarding the affected organ to confirm the presence of a tumor, and gene testing is carried out.
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Before getting the test done, the risk of having the harmful mutated variant of BRCA genes is assessed. This involves genetic counseling. The genetic counselor advises if genetic testing is necessary or not.
How to Reduce the Risk of Cancer in Mutated BRCA Carriers?
The risk of cancer can be reduced or prevented to a major extent by carrying out the following procedures:
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Enhanced Screening - Patients who tested positive for the BRCA variant gene must be screened for breast cancer by mammography or magnetic resonance imaging (MRI) scans. In addition, transvaginal ultrasound can be carried out in patients with ovarian cancer. Ultrasound or MRI can also be done on the lower abdomen to detect pancreatic cancer.
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Risk-Reducing Surgery - Surgeries can be performed in patients with high risk as per genetic testing. These include surgeries such as:
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Prophylactic Bilateral Mastectomy - Removal of both breasts to reduce the risk of cancer.
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Prophylactic Salpingo-Oophorectomy - Removing the ovaries and fallopian tubes.
Though the surgeries prevent the risk of cancer, they can pose complications, which
include infection, bleeding, anxiety and psychological disturbance due to change in
physical appearance. It is to be remembered that not all the tissue that can cause cancer
can be removed, and hence, the cancer can occur even after risk-reducing
surgery.
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Chemoprevention - Using certain medications like Tamoxifen or Raloxifene to prevent the risk of cancer..
What Are the Treatment Options for Patients With Inherited BRCA Mutated Genes?
Following treatment options can be opted to treat patients with inherited BRCA variant genes.
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Surgical Management -Treatment of breast or ovarian cancer involves completely removing the involved organ to prevent the cancer from spreading and reoccurring.
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PARP (Poly ADP Ribose Polymerase) Inhibitors - It is a protein involved in DNA repair, which stops the growth of cancer cells. There are four PARP inhibitors that help in treating cancers: Olaparib, Niraparib, Rucaparib, and Talazoparib.
Conclusion:
Though cancer is being fought and there is an increasing number of cancer survivors, cancer-initiating genes can be found in any individual. Diagnosing tests for detecting the presence of genes are carried out, and required treatment is provided. Certain surgeries can prevent the effect of BRCA-mutated genes under the guidance of experienced oncologists, geneticists, and dermatologists. It is necessary to get tested for mutated BRCA genes when there is a family history of cancers related to the breast or ovaries.
