Do You Have A Cancer Gene? Here’s What You Need To Do Next

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Updated Mar 14, 2025 | 04:00 PM IST

Do You Have A Cancer Gene? Here’s What You Need To Do Next

SummaryGenetic testing helps identify hereditary cancer risks, with 5-10% of cancers caused by inherited mutations. Early detection through testing enables preventive measures, increased surveillance, and lifestyle modifications to reduce cancer risks effectively.

Although today cancer is often linked to lifestyle and environmental factors, there are also hereditary factors—approximately 5% to 10% of cancers result from genetic mutations that are inherited within families? This indicates that there are certain cancers resulting from genetic mutations that are inherited within families. If cancer is believed to run in your family, genetic testing might give you valuable information about your risk and what to do next.

It's important to understand how genetic testing is done and what you do if you happen to have a cancer-causing gene mutation so that you can take care of your health. Here's what you need to know about inherited cancer risks and what to do if you get a positive test.

Genetic testing is performed by examining a person's DNA to find particular changes or mutations that could lead to an elevated risk of acquiring specific diseases, including inherited cancers.

These tests can indicate whether a person has gene mutations that are linked with increased risks of cancer, including BRCA1 and BRCA2 mutations that cause breast and ovarian cancers," says Dr. Vinay Bhatia.

The testing process is relatively simple and non-invasive. It usually involves submitting a saliva sample, a cheek swab, or a blood sample, which is then analyzed in a lab for up to 100 different gene mutations. The results can provide valuable information about your cancer risk and potential prevention strategies.

Who Should Consider Genetic Testing?

Not everyone needs genetic testing, but it is recommended for individuals with:

  • A personal history of cancer, particularly in early age.
  • A family history of more than one relative with the same or related kind of genetic cancer.
  • A recognized gene mutation within the family.
  • Family cancers that give an indication of inherited risk.

Genetic testing is especially useful if a close relative has already developed cancer. The most appropriate first person to be tested is the relative with cancer, since his or her result can give guidance on inherited risks for the remaining family members.

Are Genetic Tests 100% Accurate?

According to Dr. Bhatia, while genetic testing is very accurate, it is not perfect.

"Accuracy can be affected by the type of test used and even the gene in question. Lifestyle factors such as diet, exercise, and not smoking can decrease the risk of inherited cancer but cannot eradicate the effects of inherited predisposition," he states.

This implies that even if you are negative for a particular mutation, you might still have other genetic or environmental factors contributing to your risk of cancer. On the other hand, being positive does not always mean that you will get cancer—it just means that you have a higher-than-average risk.

What to Do If You Test Positive for a Cancer Gene

Getting a positive genetic test result is overwhelming, but it is not a diagnosis of cancer. Rather, it is a chance to be proactive about prevention and early detection.

"If a person tests positive for a gene mutation related to cancer, the follow-up usually involves talking to healthcare providers who are experts in genetics and oncology," says Dr. Bhatia.

Some steps you might take:

Consult a Genetic Counselor: A genetic counselor can help interpret your results and discuss the next steps tailored to your specific risks.

Increase Surveillance: More frequent screenings, such as mammograms, MRIs, or colonoscopies, may be recommended to detect cancer early.

Consider Preventive Measures: In some cases, preventive surgery (such as a mastectomy for BRCA gene carriers) or medications may be an option.

Lifestyle Changes: Although heredity has a major impact, living a healthy lifestyle that includes a healthy diet, regular physical activity, and not smoking can also minimize cancer risk.

Talk to Family Members: Because family members can be influenced by inherited mutations, results should be shared so they too may consider genetic testing.

Understanding Genetic Test Results

One of the advantages of seeing a genetic counselor is that they will get you ready for three potential test results:

Negative Result: This indicates no known genetic mutations associated with cancer were detected. Yet, your risk can still be higher if cancer is hereditary in your family.

Variant of Unknown Significance (VUS): This is a genetic variation that was identified but is unknown as to whether it affects the risk of cancer. More study may be required.

Positive Result: This is an indication that you carry a genetic mutation associated with increased cancer risk. The extent of increased risk varies depending on the mutation.

Although it has the capability to save lives, genetic testing is not being used to its full potential. Cancer patients and their families do not get tested because they lack knowledge about it, worry about the cost, or are afraid of the outcome. But most insurance covers genetic testing for someone with a personal or family history of cancer, so it can be made available to them.

Physicians and genetic counselors stress that knowing your genetic risk can enable you to make responsible healthcare choices. If you have a suspicion of a hereditary connection to cancer in your family, don't delay in asking your physician about genetic testing or requesting a referral to a genetic counselor.

To learn if you have a gene related to cancer is life-altering, yet not a diagnosis. Rather, it is an effective tool with which to grasp your health in its entirety. Ranging from intensified monitoring to behavioral modifications to even preventive measures, genetic screening provides vital information with which to manage cancer threats in yourself and your loved ones better.

If you have a history of cancer in your family, genetic testing can be a step toward prevention and early detection. Talk to your doctor today about what options are available and how you can make the best decisions for your health and future.

Dr Vinay Bhatia is Head of Molecular Biology at Oncquest Laboratories in India

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