What Is Hereditary Cancer Risk?

Most cancer is due to a combination of genetic changes accumulated over a person’s lifetime as well as environmental factors, but about 10% of cancers are related to inherited mutations. Hereditary cancer risk is the risk that can be attributed to these inherited mutations.

Understanding hereditary cancer risk may help your peace of mind, but this information is also important to help you and your healthcare provider create a personalized plan for managing your health. This article will break down what hereditary risk means and how knowing your risk can help you make an individualized health plan.

What Does “Hereditary Cancer Risk” Mean?

There are several cancers with genetic mutations that can be inherited. These are known as germline mutations (as opposed to acquired mutations, which develop over a person's lifetime). Having one of these mutations means that you are at an increased risk of developing cancer.

The Basics of Genetics: Genes, DNA, and Mutation

Your genes are contained in your DNA. They serve as the blueprint for you. Genes are coded in a series of four bases made of nitrogen. The order of these four base codes for proteins that make up every part of the body and control all of its functions. DNA is copied by the body as it makes more cells.

Chromosomes are the individual pieces of DNA that are inherited from your parents. There are 46 chromosomes in 23 pairs. You get one set of 23 chromosomes from each of your parents. Mutations in the genes on these chromosomes can increase your risk of various diseases. If these mutations are present in the cells that form sperm or eggs, they can be passed down from generation to generation. Mutations may also occur spontaneously through errors in the copying of DNA.

How Mutations Can Increase Cancer Risk

Some genes are responsible for the control of cell division and growth. These genes often protect us against cancer. If these genes have mutations that affect their ability to control cell growth, there may be an increased risk of cancer. Other genetic mutations that increase the risk of cancer include genes that control DNA repair. In the copying process, mistakes in the copy process may occur. The body has its own proofreading mechanisms to correct these mistakes, but if there are errors in those proofreaders, then cancer may develop.

Not all mutations that increase the risk of cancer are directly related to cell division and repair. Some genes can affect how your body breaks down toxins. Other conditions may indirectly increase the risk of cancer by increasing the risk of other conditions that are associated with cancer.

Distinction Between Inherited Mutations and Acquired Mutations

Only about 10% of cancers develop due to inherited genetic mutations that are passed down from a parent. The rest develop due to genetic mutations that occur over time. These acquired mutations are usually the result of environmental and other factors.

How Are Cancers Passed Down in Families?

Cancers aren’t directly passed down. In fact, hereditary cancer risk does not mean that you will automatically develop cancer. What it does mean is that you have an increased risk of developing cancer.

Genetic Mutations that Predispose to Cancer

Several gene mutations are known to increase the risk of cancer.

BRCA 1 and BRCA 2

BRCA 1 and BRCA 2 are some of the more well-known genetic mutations. These are associated with an increased risk of breast and ovarian cancer. Men and people assigned male at birth (AMAB) are also associated with an increased risk of breast cancer, but also have an increased risk of prostate cancer.

Lynch Syndrome

Lynch syndrome is a hereditary cancer associated with an increased risk of colon cancer, endometrial cancer, and several other cancers. This syndrome is associated with several genes, including:

• MLH1
• MSH2
• MSH6
• PMS2
• EPCAM

The different mutations that cause Lynch syndrome are associated with different cancer risks.

Other Syndromes

Multiple other syndromes are associated with hereditary cancer risk. Some of these include Cowden syndrome, familial adenomatous polyposis, hereditary leukemia, Li-Fraumeni syndrome, Von Hippel-Lindau disease, and multiple endocrine neoplasia.

Assessing Hereditary Cancer Risk

Assessing your hereditary cancer risk is the first step to determining how to decrease the risk of developing cancer.

Importance of Family History

A detailed family history can help you determine whether you may be at an increased risk for hereditary cancer and whether you may want to pursue testing. If multiple close relatives have the same or similar types of cancer, it can indicate an increased risk. This is especially true if family members developed cancer at a young age.

Genetic Counseling

Before getting genetic testing for cancer risk, you may want to consider meeting with a genetic counselor. A genetic counselor can discuss the benefits of testing and help determine what testing may be most beneficial. They can also discuss the potential risks and limitations of testing.

How Genetic Testing Works

Genetic testing usually involves getting either a blood draw or a cheek swab. The sample contains DNA, which can be analyzed to look for specific mutations in the DNA. This testing is usually targeted at specific known hereditary cancer markers or, in some cases, the whole collection of DNA (genome) is sequenced.

What Do My Results Mean?

Interpreting hereditary cancer risk results is another place where a genetic counselor can be helpful. Positive results do not mean that you will definitely get cancer, but they often indicate that you are at an increased risk of developing cancer. How much that risk is increased often depends on the specific syndrome and mutations involved.

Managing and Reducing Hereditary Cancer Risk

One of the main benefits of genetic testing to evaluate hereditary cancer risk is that you can take steps to personalize your healthcare and decrease your risks.

Increased Surveillance

If you are known to be at an increased risk of developing cancer, your healthcare provider may recommend additional or more frequent testing to detect cancer early. For example, someone with a BRCA mutation may need mammograms starting at a younger age, or they may need a different test, such as a breast MRI. Another example is earlier and more common colonoscopies in people with Lynch syndrome.

Preventive Options

Another option for someone with an increased hereditary cancer risk is taking preventive steps. In people with Lynch syndrome, aspirin therapy may reduce cancer risk. Anti-estrogen medications are sometimes used to decrease the risk of breast cancer in people with a BRCA mutation.

Preventive surgeries are also an option for some people with an increased hereditary cancer risk. People with Lynch syndrome or familial adenomatous polyposis may benefit from having their colon removed, while people with a BRCA mutation may benefit from having a mastectomy or having their ovaries surgically removed.

Lifestyle Modifications

Lifestyle modifications are another potential option for decreasing the risk of developing hereditary cancers in people with a gene mutation that increases risk. Quitting smoking (or never starting), eating a healthy diet, engaging in regular physical activity, or maintaining a healthy weight are all lifestyle modifications that may help reduce risk.

Learn More About Your Health With Everlywell

The more you know about your health, the more opportunities you have for improving your health. Learning more about your hereditary cancer risk can allow you to take a proactive approach to monitoring for cancer and treating it early.

At Everlywell, we 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, unique risks, and recommended preventive screenings.

FAQs

What Is Hereditary Cancer Risk?

Hereditary cancer risk is an increased risk of developing cancer based on genetic markers that you may have inherited from your parents.

How Do I Know If Cancer Runs In My Family?

The best way to know whether cancer runs in your family is through a detailed family history. Knowing whether your family members have had cancer, what types of cancer, and at what age they developed cancer can provide you with valuable information about your cancer risk.

What Are Some Common Hereditary Cancer Syndromes?

Breast and ovarian cancer, Lynch syndrome, familial adenomatous polyposis, Cowden syndrome, familial adenomatous polyposis, hereditary leukemia, Li-Fraumeni syndrome, Von Hippel-Lindau disease, and multiple endocrine neoplasia are all examples of hereditary cancer syndromes.

What Is the Difference Between Hereditary and Sporadic Cancer?

Hereditary cancers are related to genetic mutations that are inherited, while sporadic mutations that accumulate over a person’s lifetime are usually responsible for sporadic cancer.

Can Lifestyle Choices Affect Hereditary Cancer Risk?

Yes, lifestyle choices can affect hereditary cancer risk. Quitting smoking, avoiding alcohol, maintaining a healthy weight, eating a healthy diet, and staying physically active are all lifestyle steps you can take to reduce risk.

Should I Get Genetic Testing if Cancer Runs in My Family?

You may want to consider genetic testing if cancer runs in your family. Your healthcare provider can advise you and may refer you to a genetic counselor to discuss your options for testing.

What Does a Positive Genetic Test Result Mean?

A positive genetic test result does not automatically mean you will develop cancer in your lifetime, but it can increase your risk of developing cancer. If you have a positive result, you should talk to your healthcare provider about how to decrease your risk.

I Have a Positive Genetic Test Result. What Now?

If you have a positive genetic test result, don’t panic. Make an appointment to discuss your findings with your healthcare provider or a genetic counselor. They can help you come up with a personalized healthcare plan to address the increased risk.

References

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