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Hereditary cancer screening is important, and many people who may be at risk aren't being tested.

What is hereditary cancer?

Cancer is more common in some families. About 5% to 10% of the time, cancer is caused by an inherited change in a gene, commonly called a “variant.”3
The variant can be passed down from one generation to the next. People who inherit the variant have a higher risk of developing some cancers than people who do not.
Hereditary Cancer Graphic

Important terms defined

DNA

A molecule that contains the instructions for making all the components of the cells in your body.

Gene

A set of instructions made of DNA that tells your body how to develop and function.

Variant

A permanent change in DNA, sometimes called a “mutation” or “pathogenic variant” if the change is thought to have a harmful effect.

What is genetic screening for hereditary cancer?

  • A genetic test can help you find out if you were born with a variant that may increase your risk for some cancers
  • The test works by reading through your genes to see if there are any inherited variants
  • If you have a harmful variant, you and your provider may discuss management options such as enhanced cancer screening, medication, lifestyle changes, or surgery
risk factor infographic

What do I need to know?

Speaker 1: In this short video, we'll provide information to help you decide if genetic testing for hereditary cancer is right for you. But before we can answer this question, let's define a few terms. DNA is a molecule that contains the instructions for making all the components of the cells in your body. A gene is a set of instructions made of DNA that tells your body how to develop and function. A variant is a permanent change in DNA, sometimes called a mutation or pathogenic variant if the change is thought to have a harmful effect. Now that we have those terms, find what exactly is hereditary cancer. Cancer is more common in some families, about five to 10% of the time. Cancer is caused by an inherited change in a gene or a variant. The variant can be passed down from one generation to the next. People who inherit the variant have a higher risk of developing some cancers than people who do not.

Speaker 1:
This is called hereditary cancer. So then, what is genetic testing for hereditary cancer? A genetic test is available to help you find out if you were born with a variant that may increase your risk for some cancers. The test works by reading through your genes to see if there are any inherited variants. How can genetic testing for hereditary cancer help me? It can help you and your provider learn more about and better address your cancer risk if you have a harmful variant. You and your provider may discuss management options such as enhanced cancer, screening, medication, lifestyle changes, or surgery. So who should consider testing? Have you or a close relative been diagnosed with cancer under age 50? Been diagnosed with a rare cancer such as pancreatic, ovarian, or male breast cancer. Been diagnosed with two or more cancers in your lifetime? Have you or two or more relatives on the same side of your family been diagnosed with cancer, has a relative tested positive for a mutation?

Speaker 1: Talk with your provider about testing. If any of these statements are true about you or someone in your family, will the results impact my health insurance? There is a federal law called the Genetic Information Non-Discrimination Act, or Gina. Gina protects most patients who have genetic testing because of Gina health insurance companies cannot use a genetic test result or family health history too. Cancel your health insurance, increase your insurance premium, or refuse coverage. There are some exceptions to Gina, and you can visit gina help.org to learn more. What types of results can I get back? There are three possible results. A positive result means that the test detected a variant. This means that you have a higher risk for some types of cancer. A negative result means that the test did not detect any variants in the genes tested. This can mean different things depending on your personal and history of cancer and whether there is a known variant in the family.

Speaker 1: The last type of result is called a variant of unknown significance or VUS. This is when a variant is found, but it is not yet known how the change might affect your health. Since we don't yet know their meaning, VUSs are not medically actionable and similar to a negative result. Decisions about your care should be made based on your personal and family history. Whatever your results are, it's important to periodically review them with your provider and discuss any options for management. Does a positive result mean I will develop cancer? Not necessarily. A positive result means you were born at a higher risk for one or more types of cancer. As mentioned, there are often ways to lower your risk or prevent cancer. If you test positive, you and your provider will create a personalized plan. If testing finds a variant, what does this mean For my family?

Speaker 1: We share our genes with our relatives. If you have a variant, your parents, siblings, and children each have a 50% chance of having the same variant and corresponding cancer risk. Other relatives may also be at risk. This is why it's important to share your test results with your family. What comes next? The next step is to talk with your provider about your personal and family history of cancer. If you decide to move forward with testing, your provider can order the test for you, and you'll then have your sample collected. When the test is finished, you and your provider will get the results and discuss next steps. 麻豆原创 is here to help provide trusted insights as you make genetics part of a healthier future.

Understanding your results

When the test is finished, you and your provider will get the results and discuss the next steps. There are 3 possible results.

A positive result means that the test detected a variant and that you may be at higher risk for one or more types of cancer. It does not necessarily mean you will develop cancer.

A negative result means that the test did not detect any variants in the genes tested. This can mean different things depending on your personal and family history and whether there is a known variant in the family.

A variant of unknown significance is when a variant is found, but it is not yet known how the change might affect your health.

References

  1. Childers CP, Childers KK, Maggard-Gibbons M, et al. National estimates of genetic testing in women with a history of breast or ovarian cancer. 2018. J Clin Oncol. 2017;35(34):3800–3806. doi:10.1200/JCO.2017.73.6314.
  2. McRonald FE, Pethick J, Santaniello F, et al. Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway. Eur J Hum Genet. 2024;32(5):529-538. doi:10.1038/s41431-024-01550-w.
  3. Hart SN, Polley EC, Yussuf A, et al. Mutation prevalence tables for hereditary cancer derived from multigene panel testing. Hum Mutat. 2020;41(8):e1-e6. doi:10.1002/humu.24053
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