Breast and ovarian cancer: What is genetic testing, an underused and unrecognized concept

Breast and ovarian cancer is one of the important cancer in women. Many patients undergo mastectomies without any genetic testing and counseling. Genetic testing is to know the underlying cause behind the cancer and it can have implications for you and your family. Nowadays, patients are willing to get every bit of information for themselves to improve the outcome and it is not the cost which is hampering the patients from getting themselves tested because the cost has dramatically come down. It is still an unrecognized and a misunderstood concept. It is an unrecognized concept because of the lack of awareness. It is a misunderstood concept because even if the patients get tested, they do not understand the implications of the same that they are actually at high risk of additional breast and ovarian cancers. Moreover, their family is at risk. It is the responsibility of the geneticist to explain the concept to the patients what impact can be by doing the genetic testing with the test interpretation. We bring forth few important points for you to understand about genetic testing in breast and ovarian cancer.

What is genetic testing? Genetic testing is a simple blood test by which the geneticist find out if you carry certain genetic change. Genes are present in your body’s cells. They tell your cells how to make different proteins, and they give your body instructions about how you should look and how your body should work. Sometimes, genes can have some mistakes which are known as mutations, that change the way your body makes proteins. These changes put you to the risk of having some disease. There are various genetic tests to look for different mistakes that predispose you to different kind of diseases. It is the testing and its interpretation which tells you your risk estimate.

Which genes affect a person’s risk of breast and ovarian cancer? There are a number of genes that can cause these cancers but the 2 important genes are BRCA1 and BRCA2. If there is some change present in these genes, then there is a high chance of having the cancer. These genes are passed down the generations. So they run in the families. If the abnormal copy of that gene is present in any of the family member, then there is a high chance of having the cancer for that family member as well.

Should I have a genetic test for breast and ovarian cancer? Testing is recommended only if there is a strong family history of cancer in your family members. The doctor should take proper history like how many relatives have the cancer, which cancer, at what age, what was the histopathological diagnosis. It is important to understand here that even if you have a strong family history, it doesn’t mean that you have the abnormal gene. The testing of the affected is required before offering the test to the unaffected. Also it is important to understand that even if the abnormal copy is present in you, it doesn’t mean that there is 100% chance that you will have cancer.

What if I test positive for BRCA1 or BRCA2? — If you test positive, try to stay calm. Finding out you carry a mutation can be scary. But there are ways to lower the chances that you will get or die from cancer. And remember, not everyone with a mutation gets cancer. So don’t worry. Remember that your main purpose of getting the testing was to increase the chance of survival.

How can I lower the chances that I will get cancer? — If you have a BRCA mutation, you can lower your chances of getting breast or ovarian cancer by: getting screening tests done so that it is detected early, getting surgery done to prevent it from happening, take medicines that help prevent cancer.

What should I do before I get tested?

It is important to consult some expert in the field of genetics to guide you regarding testing, whether it is really indicated, what is the cost associated with the test, interpretation of the test results and counseling for you and your family members. It is important to interpret the results with caution because the results are not always clear cut.

If you have someone in your family with breast or ovarian cancer or if multiple family members have different cancers and you want to know more about it please feel free to write to us at monibhatia@primegenetics.in and visit our website:www.primegenetics.in