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What Does a Positive Cancer Genetic Test Mean?

Article ID 03-GL-LI-00339

Genetics Longevity insight visualization for What Does a Positive Cancer Genetic Test Mean?

Does a Positive Genetic Test Mean You Have Cancer?

No. A positive hereditary cancer genetic test does not mean that you have cancer or that you will inevitably develop it.

It means that testing has identified an inherited genetic change known to increase the risk of certain cancers.

These changes are called pathogenic variants. They can affect how cells repair DNA or control cell growth.

The level of risk depends on the gene involved, the specific variant, and your individual medical and family history.

How Much Does a Positive Result Increase Your Risk?

Not all inherited genetic changes carry the same risk.

Some variants, including certain changes in BRCA1 and BRCA2, are associated with substantially increased risks of specific cancers.

Others may increase risk more moderately.

A positive result should therefore be interpreted in relation to the particular gene and the cancers associated with it.

Your doctor or genetic specialist can explain what the finding means for your personal risk.

What Should You Do After a Positive Result?

The next step is to discuss the result with a qualified genetic specialist or physician experienced in hereditary cancer risk.

Depending on the finding, your prevention plan may include:

  • Earlier screening: Beginning certain examinations before the usual recommended age.
  • Closer surveillance: More frequent examinations or specialized tests, such as breast MRI or colonoscopy.
  • Risk-reducing treatment: Considering preventive medication or surgery when supported by clinical evidence.
  • Family assessment: Offering targeted genetic testing to relatives who may carry the same variant.

Not every positive result requires intensive surveillance or preventive surgery. Recommendations depend on the associated cancer risk and individual circumstances.

What Does the Result Mean for Your Family?

Inherited cancer-related variants can be passed from parents to children.

For many hereditary cancer syndromes, including those involving BRCA1 and BRCA2, each child of a parent carrying a pathogenic variant has a 50% chance of inheriting it.

Other inheritance patterns are possible, depending on the condition.

A confirmed result may therefore be important for your parents, siblings, children, and other biological relatives.

Targeted testing can help determine which relatives may benefit from additional preventive care.

What If the Result Is Uncertain?

Not every genetic change detected by testing is known to increase cancer risk.

A variant of uncertain significance means that there is currently insufficient evidence to determine whether a particular genetic change is harmful.

This is not the same as a confirmed positive result.

An uncertain finding should not, by itself, lead to preventive surgery or major changes in screening.

Your medical and family history remain important when planning care.

Can You Still Reduce Your Cancer Risk?

Yes. A confirmed hereditary predisposition provides an opportunity to take preventive action.

Some interventions can lower the probability of developing certain cancers. Others improve the chance of detecting cancer at an early stage.

Avoiding tobacco, maintaining a healthy weight, regular physical activity, limiting alcohol, and following recommended screening remain important.

Genetic risk cannot always be eliminated, but knowing about it can help you make more informed decisions about your long-term health.

Author

Monika Mikulicz-Pasler, MD, PhD

Monika Mikulicz-Pasler, MD, PhD

Specialist in Cardiology

Specialist in Internal Medicine

KCM Longevity Clinic

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