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Definitions and FAQs
Genetic Change (mutation, gene variant, genetic variant)
A genetic change (sometimes called a mutation, gene variant, or genetic variant) is a change in a DNA base sequence. While not all genetic changes will cause problems, sometimes, changes in genes can lead to changes in proteins and then the proteins don't work the way they are supposed to. This can lead to disease.
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Some genetic changes can be passed on from parent to child (inherited). These genetic changes occur in the germ cells, which are the cells that create sperm or eggs. Genetic changes that occur in the other cells in the body (known as somatic cells) do not get passed on to a person's children.
Genetic changes happen when new cells are being made and the DNA is copied. Also, exposures, such as high levels of radiation, can damage the DNA and cause genetic changes. However, most exposures will not result in genetic changes because each cell in the body has a system in place to check for DNA damage and repair the damage once it's found.”
https://www.cdc.gov/genomics-and-health/about/index.html
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Cancer cells usually have multiple genetic changes. These changes can lead to uncontrolled and abnormal cell growth and the spread of cancer to other parts of the body (metastasis).
Your genetic makeup (genes you inherited from your parents) may impact treatment, for some gynecologic cancers. Understanding inherited risks for cancers and tumors may also increase awareness of risk factors for you and your family and help your doctor determine your care including specialized cancer screening.
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A tumor’s genetic makeup (somatic) may help doctors determine specific types of cancer (diagnosis), possible treatment options, and the aggressiveness of a tumor (prognosis).
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GENETIC TESTING (what is it?)
Almost 2 out of 10 individuals diagnosed with either ovarian or uterine cancer/tumors have an inherited risk. Genetic testing to determine if you have an inherited risk and the specific genetic condition may be helpful. Most cervical cancer does not have an inherited risk. A rare type called adnoma malignum may be associated with an inherited risk. Not much is known about inherited risk factors for vulvar and vaginal cancers.
There are many different genetic conditions associated with an increased risk for gynecologic cancers. The two most common conditions are: Hereditary Breast and Ovarian Cancer (HBOC) caused by inherited mutations in the BRCA1 or BRCA2 genes (often referred to as BRCA genes) and associated with an increased risk for breast, ovary and other cancers, and Lynch Syndrome, associated with increased risk for colon, uterine and ovarian cancer and caused by inherited mutations in MLH1, MSH2,MSH6, PMS2 and EPCAM.
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GENETIC TESTING (how is it done?)
Genetic Testing for inherited cancer risk, looks for changes in genes that may have health implications. A blood or cheek swab sample is sent to a specialized genetic testing laboratory. Results usually take 1-2 weeks.
To learn more:
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See National Cancer Institute: Genetic Testing for Inherited Cancer Risk
https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet#q1
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It is recommended that you speak with a trained Genetic Counselor to determine if you may have an inherited risk, the pros and cons of genetic testing, and if genetic testing is right for you.
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WHO ARE GENETIC COUNSELORS?
Medical professional with graduate degrees in medical genetics and counseling that work together with doctors, nurses and other health care professionals to assist in determining possible inherited risk for genetic conditions. They may facilitate genetic testing and provide education and support regarding genetic conditions for individuals and their family members
RESOURCE: National Society of Genetic Counselors
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WHO SHOULD CONSIDER GENETIC TESTING?
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Anyone diagnosed with ovarian cancer
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Anyone diagnosed with uterine cancer whose tumor is:
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Microsatellite instability high (microsatellite unstable) (MSI- high)
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Mismatch repair deficient (MMR-d)
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Anyone that may have other indicators for hereditary cancer including
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Being diagnosed with cancer at a younger age than average for that cancer. For example, being diagnosed with uterine cancer at age 50 or younger
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Having bilateral tumors
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Having multiple primary tumors (for example being diagnosed with both uterine and colon cancer)
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Having multiple relatives from the same side of the family with the same or related cancers/tumors
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Having multiple pre-cancerous tumors such as pre-cancerous colon polyps, atypical moles.
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IS GENETIC TESTING COVERED BY INSURANCE?
Different policies have different guidelines for coverage of genetic testing for inherited risk. Check with your insurance carrier to determine specific coverage.
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Generally, recommendations (evidence level A and B) by the US Preventive Services Task Force (USPSTF) that are considered covered under the accountability care act as preventive service. The recommendation regarding genetic testing for BRCA1 and BRCA2 was updated in 2019 but is CURRENTLY UNDER REVIEW.
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