Interview with Jessica Ordonez, Certified Genetic Counselor on Breast Cancer Risk, BRCA, and MyRisk with RiskScore

When we talk about breast cancer genetics, we need to get past one of the biggest misconceptions out there: being “BRCA negative” does not automatically mean we have no hereditary cancer risk. BRCA1 and BRCA2 matter enormously, but they are only two genes among many that can influence cancer risk.

That is why Dr. Thais Aliabadi and Mary Alice Haney sat down with Jessica Ordonez, a certified genetic counselor and Medical Science Liaison at Myriad Genetics, to talk honestly about hereditary cancer testing, variants of uncertain significance, family history, CHEK2, breast cancer risk assessment, and what people can actually do with the information they receive.

Table of Contents

• Understanding What Genetic Counselors Actually Do
• All Breast Cancer Is Genetic, But Not All Breast Cancer Is Hereditary
• Why BRCA Is Not the Whole Story
• Mutation, Variant, and Negative Result: The Words Matter
• Beyond a Gene Panel: Understanding MyRisk with RiskScore
• Family History Red Flags We Should Take Seriously
• CHEK2 and the Value of Broader Testing
• What Happens After a High Risk Result?
• A Practical Checklist for Our Next Appointment
• FAQ
• Knowledge Gives Us Options

Understanding What Genetic Counselors Actually Do

What does a genetic counselor do?

We are master’s trained, board certified health professionals who specialize in genetics and counseling. In cancer genetics, our work is not just about ordering a test. We help interpret personal and family history, explain what testing can and cannot tell us, discuss results in context, and help people understand the next steps.

Many genetic counselors work directly in clinics with patients in oncology, pediatrics, adult genetics, and hereditary cancer programs. Others work with healthcare professionals to bridge the gap between evolving scientific evidence, clinical guidelines, and the tools available to support informed care.

That bridge matters because genetic science moves quickly. A test result is not simply a piece of paper. It is health information that may affect screening, preventive care, surgery discussions, relatives, and future decisions. We want people to have accurate information and support before they make any life changing choice.

Why is hereditary cancer testing such an important conversation?

Because many people have never been offered it, have never heard of it, or believe it applies only if a mother or sister had breast cancer. In practice, family histories are often much broader than that. A grandfather with pancreatic cancer, a father with prostate cancer, an aunt with ovarian cancer, or several relatives with different cancers on one side of the family can all be relevant.

We need to be our own health advocates. That does not mean diagnosing ourselves or demanding a particular result. It means asking questions, bringing complete family history to appointments, understanding what testing has actually been performed, and requesting a copy of the report.

For more practical guidance on having those conversations in a medical setting, we can also use this resource on advocating for yourself at the doctor.

All Breast Cancer Is Genetic, But Not All Breast Cancer Is Hereditary

What is the difference between genetic cancer and hereditary cancer?

This distinction is critical. Cancer occurs when cells grow out of control, and genetic changes are often part of that process. Those changes may happen randomly over time or in connection with environmental exposures. In that broad sense, cancer involves genetics.

But hereditary cancer refers to an inherited genetic change that we are born with. That inherited change can make us more susceptible to developing certain cancers during our lifetime. It may also be passed through a family.

About 5% to 10% of breast cancers are considered hereditary. That percentage may sound small, but it represents a substantial number of people and families. More importantly, identifying a hereditary cancer susceptibility can give us a chance to screen differently, intervene earlier, and make proactive decisions.

Does no family history mean we do not need mammograms or genetic testing?

Absolutely not. A lack of known family history does not eliminate breast cancer risk, and it does not mean we should skip standard screening. Family history can be incomplete for many reasons. Families may have few female relatives, relatives may live far apart, someone may have been adopted, health information may not have been openly shared, or cancer diagnoses may have been misunderstood.

We also need to remember that genes can be inherited through either side of the family. Paternal history matters just as much as maternal history. If a paternal grandfather had aggressive prostate cancer or a paternal uncle had pancreatic cancer, that could be relevant to a woman’s own hereditary cancer risk.

Family history is an important clue, but it is not a perfect proxy for genetics. It helps us decide when a deeper conversation with a clinician or genetic counselor may be worthwhile.

Why BRCA Is Not the Whole Story

Are BRCA1 and BRCA2 the only breast cancer genes that matter?

No. BRCA1 and BRCA2 were among the first genes linked to hereditary breast and ovarian cancer, and we have known about them for a long time. They remain major players in hereditary cancer risk assessment. But science has identified many additional genes associated with breast cancer and other cancer types.

One inherited mutation may also affect risk for more than one cancer. For example, BRCA1 and BRCA2 can be associated with breast, ovarian, prostate, pancreatic cancer, and melanoma. That is why we cannot look only for “women’s cancers” when we take a family history.

When we hear, “I had genetic testing and it was negative,” the next question should be: What genes were tested? A report that evaluated only BRCA1 and BRCA2 is not the same as a broader hereditary cancer panel.

Why should we ask for the actual genetic testing report?

Because our care team cannot know what was tested without seeing the report. We may have been tested years ago, before broader panels became common. We may remember being told the result was “fine” without knowing whether the analysis was limited. Or, in rare but very consequential situations, the result may have been misunderstood.

We have seen people who believed they had complete genetic testing when only BRCA genes had been evaluated. We have also seen patients whose broader testing identified a mutation that had been missed by a narrower test. Those results can change discussions around breast screening, pancreatic surveillance, gynecologic care, and family testing.

We should keep a copy of the report in our records, share it with appropriate healthcare professionals, and discuss whether relatives should know about a meaningful result. A genetic result can provide valuable information for an entire family.

For a fuller overview of hereditary cancer syndromes, possible results, and risk management options, see this educational resource about genetic testing for cancer.

Mutation, Variant, and Negative Result: The Words Matter

What is a variant of uncertain significance?

A variant of uncertain significance, often called a VUS, is a genetic difference that has been identified but is not currently known to increase cancer risk. We all carry genetic differences. Having a difference in DNA does not automatically mean that something harmful is happening.

The concern arises only when evidence shows that a genetic change disrupts the normal function of a gene in a way that affects health. Until sufficient evidence exists, a variant remains uncertain. Laboratories monitor research, published data, and additional evidence over time to determine whether a variant should be reclassified.

This is why careful interpretation is so important. People may make major choices based on genetic information, including preventive surgery or intensified surveillance. We need to be very sure that a result is truly clinically meaningful before treating it like a cancer causing mutation.

Is a VUS the same as a positive mutation?

No. A VUS is not the same as a known pathogenic mutation. This distinction cannot be overstated. A positive result means that a clinically significant mutation has been identified. A VUS means there is not enough evidence to determine whether the genetic difference has an effect on cancer risk.

We should never confuse a “positive” notation related to a variant with a confirmed positive hereditary cancer result. If we are uncertain about a report, we should ask the ordering clinician or a genetic counselor to explain it line by line.

On many reports, the result will be displayed clearly. A negative result indicates no harmful mutation was identified in the genes tested. A positive result indicates that a clinically significant mutation was found. A VUS is a separate category and should be understood as uncertain, not as proof that cancer is coming.

Can a genetic result change over time?

Yes, particularly when it comes to variants. Scientific knowledge grows, databases become larger, and laboratories gather more evidence. That is why it is valuable to work with providers and laboratories that have a process for monitoring variant classifications and communicating relevant updates.

It is also why retesting or updated testing can be worth discussing when prior testing was limited, completed many years ago, or does not reflect current family history. Whether retesting makes sense is individual, so we should discuss the actual report and our personal circumstances with a qualified medical professional.

Beyond a Gene Panel: Understanding MyRisk with RiskScore

What does MyRisk with RiskScore assess?

The approach discussed here is comprehensive. MyRisk evaluates 48 genes associated with hereditary susceptibility to 11 types of cancer. That component helps identify whether a known hereditary cancer mutation is present.

For eligible patients, it also combines personal history, family history, and additional genetic information to estimate breast cancer risk. The report can include both a five year and lifetime breast cancer risk estimate.

The key point is that hereditary mutation testing and breast cancer risk assessment are related but not identical. We can have no identified mutation on a cancer gene panel and still have an elevated lifetime breast cancer risk based on our history and other genetic markers.

What is the Tyrer-Cuzick score?

Tyrer-Cuzick is a breast cancer risk assessment model that uses personal and family history. Factors can include height, weight, breast density, age at first menstrual period, age at first childbirth, whether we have had children, ancestry information such as Ashkenazi Jewish heritage, family history, and BRCA testing status.

It produces an estimate of breast cancer risk over time, including lifetime risk. It is a useful tool, but it is based primarily on the information we provide about ourselves and our families.

If we want to understand how breast cancer risk models are used in clinical care, this guide on how breast cancer risk assessments work explains how models such as Tyrer-Cuzick may inform screening conversations.

How does RiskScore add to Tyrer-Cuzick?

RiskScore combines the Tyrer-Cuzick model with small DNA markers. These markers are common genetic variations that may have very little effect individually. But when a person carries many of them, their combined influence can raise breast cancer risk.

We can picture cancer risk like a scale. A major gene such as BRCA1 or BRCA2 can weigh heavily, like a brick that significantly tips the scale. Small genetic markers are more like grains of sand. One or two may not matter much, but a large number together can shift the scale.

That combined analysis is important because a person may appear to have intermediate risk based on history alone, yet have a substantially higher risk once those smaller genetic markers are included.

Can a risk score make a real difference in care?

It can. One patient’s Tyrer-Cuzick lifetime breast cancer risk was 17%, placing her in an intermediate risk category. After MyRisk with RiskScore was performed, her estimated lifetime risk rose to 37%. No major cancer causing mutation had been identified, but the additional small DNA markers significantly changed the risk estimate.

That higher estimate led to an MRI discussion and further evaluation. A biopsy ultimately identified breast cancer. This is exactly why comprehensive risk assessment can matter. It may identify a reason to look more closely when history alone does not tell the full story.

Risk estimates are not predictions or guarantees. They are tools that help us and our doctors decide what screening and prevention conversations should happen next.

Family History Red Flags We Should Take Seriously

What family history patterns should prompt a genetic testing conversation?

We should talk with a clinician or genetic counselor if we have a family history of cancer, especially when certain patterns appear. Both sides of the family count.

• Multiple relatives with cancer on the same side of the family
• Breast, ovarian, pancreatic, prostate, uterine, or colon cancer in the family
• Rare cancers, including pancreatic or ovarian cancer
• Cancer diagnoses at younger ages, particularly in the 30s or 40s
• Relatives diagnosed before age 50
• A known genetic mutation in a family member
• Limited or unknown family history, including adoption

A grandmother diagnosed with breast cancer in her 80s may be less suggestive of a hereditary syndrome than multiple relatives diagnosed young, but it does not mean the chance is zero. The bigger message is simple: do not dismiss relevant family history because it happened on our father’s side, involved a male relative, or was not breast cancer.

Why is pancreatic cancer such an important family history clue?

Pancreatic cancer can occur within the spectrum of multiple hereditary cancer syndromes. When there is a first degree relative with pancreatic cancer, that is an especially important reason to ask about genetic testing.

We cannot assume that because the family cancer was pancreatic, prostate, or another non-breast cancer, it has no relevance to breast and ovarian cancer risk. Inherited mutations can affect people differently across a family and can increase risk for several types of cancer.

CHEK2 and the Value of Broader Testing

What is CHEK2?

CHEK2 is a gene associated with increased breast cancer risk. It is also associated with increased prostate cancer risk in men. Evidence around its relationship with colorectal cancer has evolved, which is a useful reminder that genetics is an active area of research and recommendations may change as evidence becomes clearer.

For breast cancer, CHEK2 can be associated with a lifetime risk that is above 20% and may be around 48%, although risk varies by individual and family context. A genetic counselor or clinician can help interpret what a particular result means for a specific person.

What options may be discussed after a high risk result?

A high lifetime risk or a clinically significant mutation does not mean we will definitely develop cancer. It means we have information that can guide more proactive care. Depending on the result and individual circumstances, options may include:

• Enhanced screening, such as imaging every six months with alternating mammography, ultrasound, and breast MRI when appropriate
• Medication that reduces estrogen related breast cancer risk, while carefully weighing possible side effects
• Preventive surgery discussions for people with sufficiently high risk
• Testing and counseling for relatives who may share the mutation
• Specialized surveillance for other cancers associated with the mutation

These are deeply personal choices. A person who has recently undergone a major breast surgery may feel frustrated to learn that a genetic result could have informed a different surgical decision. But the responsibility is not on the patient to have known. Our healthcare system must do better at identifying when broader risk assessment is needed.

What Happens After a High Risk Result?

Should we panic if testing identifies BRCA1, BRCA2, CHEK2, or another mutation?

No. We need to take the information seriously, but we do not need to panic. A positive result is not a diagnosis, and it is not a death sentence. It is knowledge. It gives us a clearer estimate of risk, tells our doctors what to look for, and opens the door to options that can be lifesaving.

For people with BRCA1, for example, the discussion may include increased breast cancer risk, ovarian cancer risk, pancreatic cancer risk, and melanoma risk. That information can feel overwhelming at first. But we have options, and we do not have to decide everything immediately.

Genetic counseling helps us slow down, understand the result, consider our values, and make informed choices. The goal is not to tell anyone what to do. The goal is to provide accurate information and a full picture of the available paths.

What does “previvor” mean?

A previvor is someone who has a genetic mutation associated with cancer risk but has not developed cancer. These individuals often face difficult decisions about surveillance, medication, preventive surgery, childbearing, menopause, and sharing information with family.

They deserve support. Learning about a mutation before cancer develops is not bad news. It is an opportunity to make proactive choices with our medical team.

At what age should genetic testing begin?

Testing should be individualized, but in the clinical approach discussed here, genetic testing generally begins around age 25 rather than during the late teen years. For individuals with BRCA1 or BRCA2, that timing can align with when enhanced imaging and risk reduction conversations may become relevant.

We should not make this decision based on a general rule alone. The appropriate age depends on family history, the specific mutation in the family, and medical guidance. A genetic counselor can help determine when testing is meaningful and when it may be better to wait.

A Practical Checklist for Our Next Appointment

What can we do right now to understand our hereditary cancer risk?

We do not need to become experts overnight. We just need to take the next informed step.

1. Collect family history. Ask about cancer diagnoses on both sides of the family, including the type of cancer and age at diagnosis.
2. Do not focus only on breast cancer. Include pancreatic, ovarian, prostate, uterine, colon, and other cancers.
3. Ask what testing was actually done. If we were told we are “BRCA negative,” request the report and see whether broader testing was performed.
4. Discuss genetic counseling. A genetic counselor can help determine whether testing is appropriate and explain results accurately.
5. Understand our breast cancer risk estimate. Ask whether Tyrer-Cuzick or another validated risk assessment model is appropriate for us.
6. Ask about RiskScore when relevant. For eligible patients, this may add small DNA markers to personal and family history when estimating five year and lifetime breast cancer risk.
7. Keep a copy of every report. Store genetic results in our health records and share relevant findings with family members and clinicians.

Testing can be completed through a blood sample or saliva sample, depending on the process used. In some cases, a kit may be sent to the home after a clinician places an order. Insurance coverage often follows established guidelines, so it is worth asking about eligibility, cost, and counseling support.

FAQs

Does being BRCA negative mean we are not at risk for hereditary breast cancer?

No. BRCA1 and BRCA2 are important hereditary cancer genes, but they are not the only genes associated with breast cancer risk. A negative BRCA-only result may not reflect testing for other relevant genes. We should ask for the actual report and discuss whether broader panel testing is appropriate.

What is the difference between a mutation and a variant of uncertain significance?

A clinically significant mutation is a genetic change known to affect gene function and increase health risk. A variant of uncertain significance is a genetic difference that has not been proven to increase cancer risk. A VUS should not be treated as a confirmed positive cancer mutation.

Can cancer risk be inherited from our father’s side of the family?

Yes. Hereditary cancer mutations can be inherited from either parent. Paternal relatives with prostate, pancreatic, breast, ovarian, or other cancers may provide important clues about our own risk.

What does a high lifetime breast cancer risk mean?

It means our estimated chance of developing breast cancer over our lifetime is elevated compared with average risk. It does not guarantee that cancer will develop. It can guide conversations about enhanced imaging, risk reducing medication, preventive surgery, and other individualized options.

What should we bring to a genetic counseling appointment?

Bring as much family history as possible, including cancer types, ages at diagnosis, and information from both sides of the family. We should also bring prior genetic testing reports, not just a verbal description of the result.

Should someone with no known family history consider genetic testing?

Family history is one important factor, but it is not always complete or available. People who are adopted, have limited information about relatives, or have personal circumstances that raise concern should discuss genetic testing and risk assessment with a healthcare professional.

Knowledge Gives Us Options

The most important takeaway is not that everyone will have a mutation. Most people will not. The takeaway is that we should understand what has and has not been tested, know our family history as fully as possible, and ask for help interpreting risk.

Genetic testing does not take away our choices. It gives us choices. It can help us pursue appropriate screening, identify risk before cancer develops, inform relatives, and make decisions from a place of knowledge rather than fear.

We should know our risk, know the red flags, keep our reports, and ask for a genetic counselor when we need one. That is how we turn information into action.

Medical note: This discussion is educational and is not a substitute for personal medical advice. We should consult our healthcare provider or a qualified genetic counselor about our individual health history, testing options, and screening plan.

This article was created from the video Breast Cancer Risk w/ Jessica Ordonez: Genetics, BRCA, the MyRisk® with RiskScore® Tests | SHE MD for Dr. Thais Aliabadi’s website.