BRCA 1 AND BRCA 2 Testing in India

Avishek Roy

Scientific Liaison Manager
4baseCare

BRCA1 & BRCA2 are breast cancer genes abbreviated as breast cancer genes 1 & 2. We inherit these genes from our parents as one copy comes from the maternal side and the other gene comes from the paternal side. The main function of these genes is to repair the damaged DNA. They are sometimes known as tumor suppressor genes as they are also involved in regulating cells in their division and replication, therefore, mutations or alterations in these genes will block these functions and result in the formation of the tumor.

BRCA Testing

To identify the presence of these mutated genes, genetic tests are conducted. Genetic tests have the potential to identify all the alterations in the gene thereby enabling the oncologists to determine the treatment that is efficient for the patient. The genetic tests involve the use of DNA sequencings such as NGS or Next-Gen Sequencing. Since 2015, India has been active in taking tests for both BRCA 1 and BRCA 2. The price of these genetic tests in India varies from laboratories between the range of ₹5,000 to ₹20,000

BRCA Testing – Who requires?

Understanding who requires BRCA testing is important. Anyone in your family who has the possibility of harboring the harmful variants of BRCA is advised to take up the test. This depends on the family history, if your direct bloodlines had early-onset or experienced cancer at a later age, the family should take up genetic tests.
It also becomes crucial for couples who are wanting for children, as the presence of the mutated genes can be passed on to the next generation, and conducting genetic tests will prevent the flow of genes by adopting other assisted reproductive technologies to have children. Before the testing, the patient or the family member is asked to consult a genetic counselor to understand the risk assessment. The risk assessment includes the number of people in the family who had cancer, the age of diagnosis, relatives who are at risk, etc. Depending on these criteria, the genetic counselor will determine whether you or your family require genetic tests.

A woman’s risk of having breast or ovarian cancer is said to be high if she has inherited a harmful variant from her parents but the degree of increase varies depending on the mutations. According to National Cancer Institute, 55%–70% of women who inherit a harmful BRCA1 variant and 45%–69% of women.

BRCA Testing – Requirements

BRCA testing requires bodily samples like blood or saliva which are taken from the patient and sent to the laboratories. The lab will extract DNA from these samples and sequence the DNA using NGS. The turnaround time to develop the report will vary for each laboratories. Once the report is developed there are four possibilities of results and they are:

• BRCA -1/2 positive (pathogenic): If the test report states that BRCA- 1/2 is positive, it indicates that the patient is at higher risk of having certain kinds of cancers that are pathogenic or disease-causing in nature.
• BRCA -1/2 positive (likely pathogenic): If the test report states that BRCA- 1/2 is positive, it indicates that the patient is at higher risk of having certain kinds of cancers like ovarian, etc., and the only difference between these two positives are the pathogenicity. In this case, there is a 90% chance it can cause disease.
• BRCA -1/2 Negative: If the test report states that BRCA- 1/2 is negative, then the patient lacks the presence of mutations in BRCA genes.
• VUS: There are variations that have an impact on cancer and there are some variations that do not have an impact on cancer. Such variations that do not have an impact on cancer are termed VUS (Variant of Unknown Significance).

However, refer to your doctor to have a complete understanding of how to interpret the BRCA test report.

4baseCare’s Offerings

4baseCare’s hereditary cancer panel Germline+ uses Next-Generation Sequencing (NGS) based Genetic Testing for Hereditary and Familial Cancers that are caused by deficient DDR (DNA Damage Repair) and HRR (Homologous Recombination Repair) genes. The panel analyzes 213 genes (as per ACMG/NCCN/ESMO/AMP/CAP/FDA recommendations) that are associated with increased cancer risk in different hereditary and familial cancers. Moreover, 4baseCare also offers genomic profiling tests that can detect wide range of genomic alterations covering almost all FDA approved biomarkers.

To know more about our genetic tests, click on this link NGS Tests at 4baseCare

REFERENCES :

1. 50% off on BRCA testing cost in India – Starting from ₹21400 only. (2020, August 6). LabsAdvisor.com.
2. BRCA gene mutations: Cancer risk and genetic testing fact sheet. (n.d.). National Cancer Institute.
3. Cherney, K. (n.d.). BRCA gene: Mutations and associated cancer risks. Healthline.
4. (2022, May 20). 4baseCare.