What Does a “Genetic Cancer Marker” Mean?

Genetic cancer markers are specific changes to the DNA that indicate an increased risk of developing cancer. Many different genetic cancer markers can signal an increased risk for various types of cancer. Understanding these markers can help guide important decisions about your healthcare, such as screening, prevention, and early detection. This can empower you to take a more proactive and personalized approach to your healthcare.

What Is a Genetic Cancer Marker?

A genetic cancer marker is a specific variation or change to someone’s DNA that may signal an increased risk of developing certain types of cancer. Genetic cancer markers may be inherited from parents or develop spontaneously.

Genetic cancer markers are usually found in the genes that affect how cells grow or repair themselves. Genetic cancer markers are different than tumor markers, which usually signal the presence of cancer in the body. Tumor markers are typically proteins or hormones and are produced by cancer. So, while tumor markers usually indicate that cancer is present, genetic cancer markers provide insight into the likelihood of developing cancer.

How Genetic Cancer Markers Are Identified

Genetic cancer markers can be identified through genetic testing. This generally involves blood or saliva testing that is processed to look for specific changes in the DNA. Sequencing involves a more detailed look at the order of the genes in the DNA to detect more subtle abnormalities and provide other insights.

There may be clues to some genetic markers for cancer in your family history. Inherited genetic markers are often associated with multiple people in a family having cancer.

Types of Genetic Cancer Markers

Genetic cancer markers may be inherited (germline), while others develop over your lifetime and are known as acquired or somatic. Acquired cancer markers may develop through random changes or may also be associated with environmental factors. Acquired genetic cancer markers are more common than inherited ones. Identifying these markers can help you determine your risk of developing cancer and develop a personalized health plan that takes this risk into account.

Some examples of well-known inherited genetic cancer markers include:

• BRCA1 and BRCA2, which are associated with breast and ovarian cancer.
• Lynch syndrome, which is associated with colon cancer. Several genes may have mutations (MLH1, MSH2, MSH6, PMS2, EPCAM).
• Li-Fraumeni syndrome, which is due to changes in the TP53 gene and is associated with bone cancer, acute myeloid leukemia, brain tumors, adrenal gland cancer, and soft tissue tumors.
• PTEN Hamartoma tumor syndrome, which is associated with breast, thyroid, uterine, bowel, kidney, and skin cancer.
• Familial Adenomatous Polyposis (FAP) is associated with the APC gene and increases the risk of thyroid, stomach, bowel, pancreas, and liver cancers.
• Multiple endocrine neoplasia (MEN) types 1 and 2 are associated with several types of cancer, including thyroid, thymus, stomach, intestine, and lung cancers.

There are multiple other inherited genetic cancer markers. In addition, some of these same genetic markers may also develop spontaneously over time.

What Does It Mean to Have a Genetic Cancer Marker?

Having a genetic cancer marker does not mean that you will definitely get cancer; it means that you are at an increased risk of developing certain kinds of cancer over your lifetime. Knowing that you have a genetic cancer risk can help you and your healthcare provider develop a plan to address the risk. This may mean that you need to have screening tests earlier or more frequently. It could also help you decide on lifestyle changes or preventive measures to decrease the risks.

How Genetic Cancer Markers Are Used in Medicine

Genetic cancer markers are being used more frequently. They can be used to personalize a plan for overall health and improve patient care. If certain gene mutations are present, it may change the recommendation for when you start having cancer screenings or how often screenings take place.

Genetic cancer markers may also guide treatment in people who develop cancer. Genetic markers may indicate that a cancer will respond better to a specific treatment.

Finally, knowing that certain genetic cancer markers are present may be beneficial to your family members. This may encourage them to get tested to learn more about their risks.

Limitations and Considerations

Genetic cancer markers can provide a lot of valuable information, but there are limitations and some additional considerations.

Not all cancers have known genetic markers, and not all people with known genetic markers go on to develop cancer. Additionally, there are several genetic markers that have been identified but are of unknown significance. They may be seen in people with certain cancers, but how they increase risk is not well understood.

Knowing that you have markers that put you at an increased risk for developing cancer can cause significant emotional distress for some people. There may also be financial risks or considerations. For example, if you are known to have a high risk of developing cancer, you may have trouble getting insurance. Some of these concerns may be addressed by meeting with a genetic counselor prior to getting tested. They can discuss some of the potential limitations with you.

Learn More About Your Health With Everlywell

Preventive health is the key to reducing your risk of developing disease, disability, and even death. Knowing your genetic cancer markers can help you personalize your preventive care by identifying your risks.

At Everlywell, your health is important to us. We’re proud to offer increased access to healthcare on your terms. We offer routine health exams for men and women, including at-home lab tests. You can schedule a visit with one of our licensed healthcare providers to discuss your healthcare needs and recommended preventive screenings.

FAQs

What Is a Genetic Cancer Marker?

Genetic cancer markers are mutations in the DNA of genes that can indicate you are at an increased risk of developing certain types of cancer.

How Are Genetic Cancer Markers Detected?

Genetic cancer markers can be detected using genetic testing, which analyzes a DNA sample, usually from blood or saliva.

Does Having a Genetic Cancer Marker Mean I Will Get Cancer?

No, having a genetic cancer marker does not automatically mean you will get cancer. It does indicate that you may be at an increased risk of developing cancer.

What Are Some Common Genetic Cancer Markers?

BRCA 1 and BRCA 2 are common genetic markers associated with breast and ovarian cancer. APC is a genetic mutation that is associated with colon cancer. There are hundreds of known genetic cancer markers.

Should Everyone Get Tested for Genetic Cancer Markers?

Genetic cancer marker testing is recommended for some people who have a strong family history of certain cancers, but they are not universally recommended for everyone. Your healthcare provider can help you determine if testing for genetic cancer markers is right for you.

What Do I Do if I Have a Genetic Cancer Marker?

If you have a genetic cancer marker, you should talk with your healthcare provider or a genetic counselor to discuss a personalized health plan. This may include regular screenings, lifestyle changes, or other preventive measures.

References

1. What is genetic testing? Understanding genetic testing for cancer. American Cancer Society.
2. Quraish RU, Hirahata T, Quraish AU, Quraish SU. An overview: Genetic tumor markers for early detection and current gene therapy strategies. Cancer Informatics.
3. Genetic testing for cancer risk. Cleveland Clinic.
4. Genetic mutations. American Cancer Society.
5. Inherited genes and cancer types. Cancer Research UK.
6. What are the risks and limitations of genetic testing?: MedlinePlus Genetics.