What is a BRCA gene testing?

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Cancer occurs by an interplay of environment, lifestyle and a minor component of susceptibility in 85% of patients. In minority of individuals with ovarian cancer (~14%) or breast cancer (approximately 5%), the mutation in the BRCA1 or BRCA2 gene plays an all-important and overarching role. People with BRCA mutations have a lifetime risk of developing Breast and ovarian cancer as given in Table 1 below.

Cancer type Germline BRCA1 mutated Germline BRCA2 mutated Risk in general population No. of times the risk in Germline BRCA mutated population
Breast Cancer Female
70%
40%
12.5%
4-5 folds
Ovarian Cancer
50%
30%
1.2%
30 folds
Breast cancer Male
1.2%
6.8
12%
50 folds

BRCA testing is recommended for all patients of ovarian cancer and some patients of Breast cancers. It is important to identify if cancer is due to a BRCA1 or BRCA2 mutation because it provides you and your doctors with information that can help treat your cancer and to reduce your risk of future cancer. In addition, BRCA testing is also recommended for First Degree Relatives from 3 generations of a breast / ovarian cancer patient with BRCA mutation to identify mutation carriers and encourage them to adopt risk-reducing strategies.

Frequently Asked Questions (FAQ,s)

Why is this test being recommended to me?

You are being advised this test to look for mutations in BRCA1 and BRCA2 because of your cancer diagnosis.

I already have cancer. I do not need to know my cancer risk. What are the benefits to me?

Knowing whether or not you carry a mutation in BRCA1 or BRCA2 gives the cancer team more information about your cancer. This is useful to assess your prognosis and choice of most appropriate therapy. Certain therapies like the use of PARP inhibitors work better with BRCA mutated cancers.

Does having the test have implications for my family?

Your negative result is reassuring to the entire family and biological relatives who were categorized at risk.

A positive result is disturbing but being forewarned is being forearmed. The knowledge of being at risk can benefit the carriers by adopting risk reduction strategies which bring down the risk of cancer drastically.

What will happen if the test result is unclear?

Occasionally, we find a gene change, known as a ‘variant of unknown significance VUS’. This means that it is not currently known whether or not this gene change causes an increased risk of cancer. Genetic testing will not usually be offered to other family members for this gene change. However, sometimes further testing may be considered, or research studies offered, to try to find out more about the significance of such variants in the future. You will be referred to the genetics team to discuss the variant and any additional options.

Having the test

Do I have to have the test?

No, having this test is optional. Your decision will not affect the standard of care you receive from the hospital or doctor, which will be based on the available information.

What if I am not sure if I want to have the test?

Take your time. Gather more information and raise more questions. Get all the answers to your queries. The test can be done any time from now to a much later date in the course of your treatment.

What will happen next if I say yes?

If you decide to have the test, you will be asked to sign a consent form. A blood sample will be taken for the test.

How will I receive the results of the test?

The laboratory will inform you of the results of the test personally with detailed post-test counseling or by any other method if agreed. The results will take 4 weeks to be ready.

Will my information be confidential?

Yes. Your information will be shared with your physician in charge only. However; we shall encourage you to share the information with your first-degree relatives who also may be at heightened risk of cancer in case your test result turns out to be positive.

Last modified: 17/08/2019

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