BRCA and Beyond: Understanding Ovarian Cancer Genetic Testing

Genetics can feel like another language, especially when you are trying to understand what a cancer diagnosis or family history means for your health. Terms like BRCA1, hereditary cancer, and genetic counseling may bring up questions that are difficult to answer on your own.

In this episode of Teal Talk, genetic counselor Shrutika Yeola, MMSc, CGC, of Myriad Genetics, helps make ovarian cancer genetic testing easier to understand. This conversation builds on Christine’s story and explores what inherited cancer risk means, how genetic testing works, and what your results may mean for you and your family.

Whether you have been diagnosed with ovarian cancer, know that cancer runs in your family, or are simply looking for trustworthy information, this conversation offers a place to begin.

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Understanding BRCA and inherited cancer risk

Our genes carry instructions that help our bodies grow, develop, and function. Some genes also help protect us from cancer by repairing damage that can build up in our DNA over time.

Shrutika compares these protective genes to spell checkers.

“A number of these genes are, in fact, responsible for protecting us from getting cancer. They work like spell checkers for mistakes that build up in our body over time, and that’s a really important role to have in our body, because we don’t want these mistakes to build up.”

When a harmful inherited change affects one of these genes, the body may not repair certain DNA errors as effectively. This can increase the risk of developing cancer.

BRCA1 and BRCA2 are two of the most well-known genes associated with hereditary breast and ovarian cancer. However, they are not the only genes that matter. Other genes, including RAD51C, RAD51D, and genes associated with Lynch syndrome, can also be linked to ovarian cancer risk.

Importantly, carrying a harmful genetic mutation does not mean someone will definitely develop cancer.

“Just because somebody carries a mutation in one of these genes doesn’t necessarily mean that they’re going to get that cancer.”

Instead, genetic information can help healthcare professionals better understand a person’s risk and discuss appropriate options for managing it.

Shrutika also explains that inherited risk can come from either side of the family. BRCA mutations are associated with more than breast and ovarian cancer, including certain pancreatic, prostate, and male breast cancers. That is why it is important to consider cancer history among relatives on both your mother’s and father’s sides.

What happens during ovarian cancer genetic testing?

For someone considering genetic testing, the process often begins with a conversation about personal and family health history.

A genetic counselor is a healthcare professional trained to help people understand inherited conditions, genetic testing options, and what results may mean for them and their relatives.

“In a genetic counseling session, a genetic counselor will talk to an individual about their personal and family history.”

The counselor may create a family tree, look for patterns of cancer, explain testing options, and help determine which test is most appropriate. Testing commonly uses a blood or saliva sample.

Today, genetic testing often involves a multi-gene panel, which looks at several genes at the same time. This is different from older testing approaches that may have examined only BRCA1 and BRCA2.

“Typically, what’s ordered is what we would call a panel because we’re looking at many genes all at the same time.  15 years ago, if somebody was coming in because of their diagnosis of ovarian cancer, they may have only received BRCA 1 and 2 testing versus this comprehensive panel that I keep talking about.”

Shrutika also explains that when possible, it is often most informative to begin testing with a family member who has had cancer. This can help identify whether a specific inherited mutation explains the family’s cancer history. If that person is unavailable, other relatives may still benefit from genetic counseling and testing, although the results may have limitations.

People diagnosed with epithelial ovarian, fallopian tube, or primary peritoneal cancer should be offered genetic testing for inherited cancer risk, even if they have no known family history of cancer. Results may help guide treatment, identify risks for other cancers, and provide important information for relatives.

Genetic testing can also be different from biomarker tumor testing. Inherited, or germline, testing looks for changes present throughout the body that may be passed down through families. Tumor testing looks for characteristics of the cancer itself that may help guide treatment. Your healthcare team can explain which tests are appropriate for your situation.

A change found through tumor testing may be acquired or inherited. Tumor testing does not replace testing for inherited cancer risk. Your healthcare team can explain whether a tumor finding calls for additional testing using a blood or saliva sample

If you have had genetic testing in the past, ask your genetic counselor or healthcare provider whether changes in testing or your family history warrant another review.

Understanding your results and sharing them with family

Receiving genetic test results can bring relief, uncertainty, or new questions. Shrutika explains that results generally fall into three categories: positive, negative, or a variant of uncertain significance.

A positive result means a harmful genetic change was identified. It may increase the risk of certain cancers, but it does not predict whether or when someone will develop cancer. The specific gene and mutation identified can also be important information for relatives who may consider testing.

A negative result means no harmful mutation was found in the genes tested. However, a negative result does not always rule out inherited risk, especially when there is a strong family history or no known mutation has been identified in the family.

A variant of uncertain significance, often called a VUS, is a genetic change that researchers do not yet know enough about to classify as harmful or harmless.

“Sometimes we’ll see a change in a gene that we’ve never seen before, and we may not be able to make a call as to whether or not that particular variation or change is actually disease-causing or not.”

Most VUS results are eventually reclassified as benign. Until more is known, a VUS should not be used by itself to make decisions about preventive surgery or additional screening. Healthcare professionals consider personal and family history and other established risk factors when developing a care plan.

Genetic information can also affect an entire family. Sharing results may feel difficult, especially when relatives have different levels of comfort discussing cancer. A genetic counselor can help explain how to start those conversations and may provide a family letter that can be shared with relatives.

“Sometimes it’s not always obvious which side of the family a mutation is coming from, and that’s why it’s super, super important to be asking lots of questions.”

You do not need to have every answer before speaking with your family. Starting with what you know, asking about cancer diagnoses on both sides of the family, and sharing information with a healthcare professional can be meaningful first steps.

Conclusion

Understanding ovarian cancer genetic testing is about more than learning the meaning of a gene or receiving a laboratory report. It is about knowing what that information may mean for your health, your treatment, and your family.

Shrutika’s guidance reminds us that inherited risk is not a guarantee of cancer, and a genetic test result is not the end of the conversation. As research and testing continue to evolve, staying connected with your healthcare team can help you make informed decisions.

If you have been diagnosed with ovarian cancer or are concerned about your family history, consider speaking with your doctor or a genetic counselor. Ask what testing may be appropriate, what your results mean, and whether your relatives may benefit from additional information.

You do not have to understand every scientific term to take the first step. Knowledge, support, and open conversations can help you move forward with greater confidence.

Frequently asked questions about genetic testing and mutations