Ovarian Cancer
Genetic Risks
The importance of knowing genetic risk.
Scroll to
Need more help?
Can’t find the answer that you are looking for?
About genetic testing
What is Genetic Testing?
Genetic testing looks for changes or mutations in our genes. Genes are made of DNA molecules and serve as instructions for the cells in our bodies to function. The DNA code for proteins, which are needed for growth and proper function. We inherit half of our genes from our mother and half from our father.
If the genetic code is mutated they can cause missing, extra, or broken proteins. These small changes or “spelling mistakes” in our genes are sometimes harmless, while other times they can cause health problems such as an increased risk for certain types of cancer. Genetic testing helps to find these changes and understand their impact on our health.
Since there are different types of genetic tests based on individual needs, a trained medical professional called a genetic counselor can help you choose the right test for your situation and family history.
What is Genetic Counseling?
* This definition is taken from the National Society of Genetic Counselors.
- Genetic counselors have advanced training in medical genetics and counseling to guide and support patients seeking more information about how inherited diseases and conditions might affect them or their families, and to interpret genetic test results based on your personal and family history.
- Genetic counselors can meet with individuals or families before or after genetic testing.
- Genetic counselors are specialized in prenatal, pediatric, oncology, neurology, ophthalmology, psychiatry, and many other areas.
- Many genetic counselors are able to see patients via telehealth options.
- In addition to different specialty areas, genetic counselors can have roles outside of seeing patients.
- Genetic counselors can work in research, education, industry, marketing, and many other roles across the healthcare and genetics fields.
To learn more or find a genetic counselor near you please visit www.nsgc.org.
What is a Hereditary Cancer Predisposition?
The term “hereditary cancer predisposition” is the name for when a person has a positive genetic testing result in a gene that is associated with an increased risk of developing cancer. There are many different hereditary cancer predisposition syndromes that increase the risk for cancer in different organs of the body. Each syndrome can elevate the risk for cancer in different organs.
Examples of Hereditary Cancer Syndromes (Lynch Syndrome and Hereditary Breast and Ovarian Cancer Syndrome)
Lynch Syndrome – This is a hereditary cancer predisposition associated primarily with colon, endometrial, gastric and ovarian cancer. It is caused by variants in the genes: MLH1, MSH2, MSH6, PMS2, or EPCAM.
Hereditary Breast and Ovarian Cancer (HBOC) – This is a hereditary cancer predisposition syndrome associated primarily with breast and ovarian cancer, as well as pancreatic and prostate cancer in men. It is caused by mutations in the genes: BRCA1 or BRCA2.
Who should consider cancer genetic testing?
You should consider genetic testing if you have ever been Personally diagnosed with:
- Triple-negative breast cancer, breast cancer at any age, male breast cancer, ovarian cancer at any age, pancreatic cancer at any age, colorectal cancer before age 50, metastatic prostate cancer, prostate before age 55.
- Multiple primary cancers
- Both a personal diagnosis and a family history of cancer
You should consider genetic testing if you have a Family History of:
- Two or more persons on the same side of your family diagnosed with cancer before age 50 (especially ovarian, breast, endometrial, colon, pancreatic, aggressive prostate, or male breast cancer)
- Two or more closely related people in your family that had the same type of cancer, especially if one diagnosis is before age 50
- Anyone in your family has had multiple primary cancers (for example, breast and ovarian cancer in the same person or bilateral breast cancer with different tumor markers in each breast)
- Anyone in your family has had rare or unusual types of cancer (like male breast cancer)
What can I expect to happen in a cancer genetic counseling appointment?
You can expect your genetic counselor to:
- Review you and your family’s medical and cancer history
- Perform risk-assessment for the likelihood of a hereditary risk on either side of your family
- Review the best options for genetic testing (which genes to test, who to test first in the family)
- Discuss different types of genetic testing results (positive, negative, variant of uncertain significance)
- Discuss the implications of genetic test results, as well as options for cancer management that include screening and prevention
- Review genetic testing results (testing could have been done by a different ordering provider) and medical management changes associated with the result
- With expertise in counseling, genetic counselors can also provide emotional support as you make decisions and empower you with information for your overall healthcare.
Why is Genetic Testing important to think about with Ovarian Cancer?
While most cancer happens by chance, a small amount, about 5 to 10 out of 100 are caused by a genetic risk. However, with Ovarian Cancer this number is raised up to roughly 20 out of 100. Anyone with a diagnosis of ovarian cancer or a family history of ovarian cancer should consider genetic testing, because there is a higher chance of finding a genetic change that is often passed down in the family.
How can genetic information impact me as an Ovarian Cancer Patient?
Knowing whether your cancer diagnosis was associated with a genetic risk can help guide your treatment decisions and future screenings. For example, some individuals might use this information to decide whether or not to have a more extensive surgery to increase the chance for curing the disease and reducing the risk of a recurrence.
Genetic information is also important for individuals who have completed treatment, as it can help assess the risk of other types of cancer associated with the original diagnosis and qualify them for additional cancer screenings.
How can genetic information impact me if I have a family history of cancer?
If there is a known genetic risk running in your family:
When someone in your family has already had a positive genetic test, genetic testing can be used to determine who else in the family shares the same mutation and also carries the genetic risk and who does not.
If nobody in the family has ever had genetic testing:
When you have a significant family history of cancer but nobody in your family has had genetic testing, you can still consider genetic testing for yourself. The test can help you determine if a genetic risk for cancer runs in your family, which might help explain your family history of cancer.
Even if your test results are negative, genetic testing may still be recommended for other family members. It’s possible that a genetic risk exists within the family, but you didn’t inherit it. Additionally, you could still have an increased risk for cancer based on family history, even without a specific genetic risk.
What steps should I take after receiving a positive genetic testing result?
Consult with a genetic counselor or healthcare professional trained in genetics if you have not done so already. A genetic counselor can help explain your specific test results and talk with you about your recommended risk reduction strategies. They can guide you on which specialists to consult for the various screenings you may need.
If you are comfortable sharing this information, communicate these results with your family. This could be life saving information for them to know. A genetic counselor can help you write a letter explaining these results and why your family members should also be tested.
Helpful resources
Centers for Disease Control and Prevention
Visit here for more on risk factors, risk reduction, and screening.
Myriad Genetics
Visit Myriad Genetics or more on the genetics behind hereditary ovarian cancer and assessing your risk for developing it. Take this hereditary cancer quiz to help you determine whether you should be further evaluated for either Hereditary Breast and Ovarian Cancer syndrome or Lynch syndrome.
Basser Center for BRCA
The Basser Center for BRCA at Penn Medicine’s Abramson Cancer Center is the first comprehensive center for the research, treatment, and prevention of BRCA-related cancers. Devoted to advancing care for people affected by BRCA gene mutations, the Basser Center’s unique model provides funding for collaborative research, education, and outreach programs around the world.
National Society of Genetic Counselor
Visit the National Society of Genetic Counselors to find a genetics counselor in your area.
