This Breast Cancer Awareness Month, let us learn who is more susceptible to the disease and what tests do you need to get timely treatment for it.

Written by Editorial Team | Updated : November 1, 2021 10:31 AM IST

We all go through life with a lot of hesitation. With time, we have been made aware of the fact that our family and genes can tell us about some of the diseases we are more vulnerable to. Our genes try to show us what to be cautious of, however, some of us end up denying and running from it. So far, science has helped us understand that all cancers are genetic, while they may not be hereditary. We have a pair of each gene. To be able to disrupt the gene, there is a mutation in both the copies and that's how it makes the gene non-functional and predisposes the cells carrying the mutation to divide indefinitely. However, if some patients already have a damaged copy of a gene that is important in this cell cycle or repair of DNA, inherited from their parents, the patient would be at an increased risk of developing hereditary cancer.

This World Breast Cancer Month, we would like to talk about one such issue and one disease which can be passed down to the next generation. And why timely testing can help us. BRCA1 and BRCA2 are two genes that are important to fighting cancer. They are tumour suppressor genes. When they work normally, these genes help keep breast, ovarian, and other types of cells from growing and dividing too rapidly or in an uncontrolled way.

The gene testing for BRCA is performed on those whose close blood relatives have suffered from breast cancer. The test is a blood test that uses DNA analysis to identify harmful changes in either one of the two breast cancer susceptibility genes.

People who may have an inherited mutation based on personal or family history of breast cancer or ovarian cancer are at an increased risk of developing breast cancer and ovarian cancer compared with the general population. The BRCA gene test isn't routinely performed on people at average risk of breast and ovarian cancers. The average lifetime risk of breast cancer for women is about 12%. For women who have a BRCA1 or BRCA2 mutation, the risk of developing breast cancer in your lifetime is between 69% and 72%, about 6 times greater than that of a woman who does not have the mutation. One must also understand that only 15% to 20% of women with ovarian or breast cancer have BRCA and other mutations that are definitely known to cause cancer.

These gene mutations in BRCA1 or BRCA2, significantly increase the risk of:

If a gene mutation is detected, one can work together with their doctor to manage the risk. There's no risk associated with being tested for a BRCA gene mutation other than the slight risks, including light-headedness, bleeding or bruising of having blood drawn. However, less talked about are the emotional and social consequences surrounding genetic testing and of the test results.

The journey will be fuelled with emotions, whatever be the results. If one tests positive for an inherited genetic mutation, they have feelings of anxiety, anger, sadness or depression, concerns over possible insurance discrimination and making difficult decisions about preventive measures that have long-term consequences. On the other hand, if one test negative for a BRCA mutation, one may experience survivor guilt or uncertainty towards the authenticity of the results.

To overcome these hesitations, we must consult healthcare professionals and seek their guidance before it is too late for us. Regular screenings and tests are one of the many ways we can take care of our future and our current wellbeing as well.

(The article is contributed by Dr Rajeev Agarwal Senior Director Breast Services, Medanta)

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BRCA Gene Testing: Who Is Vulnerable To Breast Cancer And What Is The Test That Helps You Understand? - TheHealthSite

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