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BRCA 1 & BRCA 2, the misbehavior of those post mutation can lead to breast, ovarian or prostate cancer and the subsequent inheritance can increase the risk of developing these cancers in descendants. Sounds like a 'Greek & Latin'? Let us understand more on this.

BRCA 1 & BRCA 2 are the genes in our DNA, discovered about 25 years ago & also called as 'Tumor Suppressor Genes' whose function, simply put; is to produce a typical protein to ensure the stability of the cell's genetic material and to control the process of cell proliferation / cell division in the human body. Mutations, a kind of technical deformity in the designated mechanism of genes increases the probability of cells in the human body developing abnormal genetic changes that can lead to cancer. After years of research, discoveries and evolution, today we know that these 2 are common mutations found in breast & ovarian cancers in females and a few other cancers like prostate cancer in men. Fortunately, we have the tests available for diagnosing mutations of BRCA 1, BRCA 2 and a few more genes that can increase the risk of these cancers.

In case of breast and ovarian cancers, we observe that those with inherited mutations of BRCA 1 & BRCA 2 have a tendency to develop cancer at a much younger age than otherwise. 'HBOC'; Hereditary Breast & Ovarian Cancer Syndrome is a collective term used for breast, ovarian and a few more cancers that develop in patients with BRCA 2 mutation. The exact risk of developing each of these cancers may differ independently. About 10%-15% of breast & ovarian breast cancers are considered to be hereditary and BRCA 1 & BRCA 2 are known to be the prime culprits in them.

These tests as we call it in medical parlance have a prognostic and a predictive value. Simply put, the detailed understanding of such mutations is not only useful in understanding cancer biology and expected outcomes in cancer patients but can also help those at higher risk of developing cancer take informed decision on preventive measures. Cancer specialists or Oncologists can plan a personalized treatment based on the mutation status of BRCA 1 & BRCA 2 identified by an appropriate genetic test. Similarly, they can counsel patients and their families for the risk of hereditary cancers and may advise them the precautionary measures and screening protocols to minimize or early diagnose the risk of cancer in descendants.

What are the tests available for BRCA 1 & BRCA 2 mutations?

It is a simple blood test that help detect potentially harmful mutations in BRCA 1 & BRCA 2 genes to assess patient's risk of developing cancer. There are many specialized labs that offer such a testing.

Why to test?

The answers can be as simple as the following two:

- To know the risk of developing second cancer in patients who has already undergone treatment for a particular cancer.

- To know and prevent the risk of developing cancer if any of the family member has or had a history of bad BRCA genes and a related cancer.

Who should be tested?

US Preventive Service Task Force (USPSTF) in its latest recommendation statement of 2019 recommends that those women who have previously been treated for breast & ovarian cancer should be offered BRCA 1 & BRCA 2 testing to reduce the risk of developing second cancer. Those with positive results of this testing should also undergo genetic counseling for preventive and precautionary measures for immediate descendants. National Comprehensive Cancer Network (NCCN) that develops evidence-based treatment guidelines for cancer treating physicians recommend in their latest guidelines that not only women but men should also be tested for BRCA related HBOC, including prostate & pancreatic cancer.

It is important that all patients with these cancers should discuss with their treating oncologist about the risk of developing second or hereditary cancers and subsequently the need for BRCA testing.

Dr. Pritam Kalaskar, MD DM

Consultant Medical Oncologist / Cancer Specialist

Mumbai Oncocare Centre, Thane

Appointment @ 7400424333 / 022-25301090

drpritamkalaskar@gmail.com