What is the BRCA Gene Mutation?
BRCA1 and BRCA2 are genes that suppress malignant tumours (cancer) in humans. When these genes change (become mutated) they do not suppress tumours as they should. BRCA1 and BRCA2 are tumour suppressor genes, which means that they keep cells from growing too rapidly.
So people with BRCA1 and BRCA2 gene mutations are at a higher risk of getting cancer. Women with this mutation are at higher risk of getting breast cancer or ovarian cancer. Mutations may also increase a woman’s risk of developing Cervical cancer, Uterine cancer.
BRCA1/2 carriers who get ovarian cancer appear to have better survival than non-carriers in the first 5 years after diagnosis. Breast and ovarian cancer are the most common diseases linked to BRCA1 and BRCA2 changes, but mutated forms of the BRCA genes may increase people’s risk for other cancers as well.
Who should consider BRCA1/2 genetic testing?
BRCA1/2 is only recommended for people with a high risk of having a BRCA1/2 gene mutation, including those with
- A family member with a BRCA1/2 gene mutation (or other inherited gene mutation linked to breast cancer).
- A personal history of breast cancer at age 45 or younger
- A personal history of bilateral breast cancer (cancer in both breasts)
What Is the Risk of Inheriting a BRCA mutation?
All people have two copies of the genes BRCA1 and BRCA2, and both men and women can pass down mutations in these genes. If you have a parent with a BRCA1 or BRCA2 mutation, there is a chance you inherited either the mutated (nonworking) BRCA 1/2 gene or the working BRCA gene from this parent.
You have a 50 per cent chance of having inherited the nonworking BRCA1/2 gene, which would cause you to have an increased risk for cancer. There is also a 50 per cent chance that you have inherited a working BRCA1/2 gene, in which case you have the same risk for cancer as a person in the general population.
BRCA1 and BRCA2 are two examples of genes that raise your cancer risk if they become altered. Changes in your lifestyle can sometimes reduce your individual cancer risk.
The cancer risk caused by BRCA1 and BRCA2 mutations is inherited in a dominant fashion even though usually only one mutated allele is directly inherited. This is because people with the mutation are likely to acquire a second mutation, leading to the dominant expression of cancer.
Do BRCA mutations increase the risk of other types of cancer?
Yes. Women who have a BRCA1/2 mutation also have an increased risk of cancer of the fallopian tube peritoneum, pancreas, and skin (melanoma).
Men who have a BRCA1/2 mutation have an increased risk of cancer of the breast, prostate, and pancreas. BRCA1/2 mutations can be passed to you from either parent and can affect the risk of cancers in both women and men.
In addition to BRCA1 and BRCA2, there are other gene mutations that can cause breast or ovarian cancer to run in a family, some of which have not yet been identified. Women with BRCA mutations may wish to consider taking drugs that prevent or delay cancer onset to help reduce their cancer risk.
How is testing for BRCA1/2 mutation done?
Before the test is done, speak to a genetic counsellor to decide whether to have the test.
- Bring with you your medical history, family’s medical history, and questions.
- You might want to bring someone with you to listen and take notes. It is hard to hear and remember everything.
- If you decide to be tested, your blood sample is sent to a lab that specializes in genetic testing. That lab will test your blood for the BRCA1 and BRCA2 mutations. It will take 4-5 weeks to get the test results.
BRCA gene test for breast and ovarian cancer risk
Mutations in either breast cancer gene BRCA1 or BRCA2 significantly increase the risk of Breast cancer, Male breast cancer, Ovarian cancer, Prostate cancer, Pancreatic cancer Melanoma.
Lowering the risk of breast cancer BRCA1/2 mutations increases a woman’s risk of ovarian cancer. Although BRCA1/2 carriers have a higher risk of ovarian cancer than non-carriers, this doesn’t mean carriers have a worse prognosis if they are diagnosed.
While the risk for male breast, pancreatic, and ovarian cancers is thought to be increased, the exact degree of increase remains under investigation.
Hereditary breast and ovarian cancer (HBOC) syndrome is an inherited increased risk of breast cancer, ovarian cancer, and other types of cancer. BRCA germline pathogenic variants confer an excessive risk for ovarian cancer ranging from 16.5% to 63%.
What is the cost of the BRCA1/2 Test?
The Cost of the BRCA1/2 Test is Rs. 15000
What is the time for the outcome of the results?
The time taken for the outcome of the results is 4-5 weeks. The reports will be sent to your email.
How to book an appointment for BRCA1/2 Test?
You can either book the test online or can call us to book your test, and a free home sample collection will be provided to all our clients.
What Does a Positive Test Result for BRCA1/2 Test Mean?
A positive test result means you have a BRCA1/2 mutation for which you have been tested. That means you have an increased risk of getting cancer. It does not mean you will get cancer.
There is no test that can tell which women with BRCA1 and 2 mutations will develop cancer or at what age. However, assessing your cancer risk is still difficult.
Having a BRCA mutation means you can pass the mutation to your children. Your siblings also may have a gene mutation. You are not obligated to tell your family members, but sharing the information could be life-saving for them.
What Does a Negative Test Result for BRCA1/2 Test Mean?
A negative test result for BRCA1/2 does not mean you will not get cancer. It may mean you have the same risk of getting cancer as people who do not have this mutation.
