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What Does a Positive Cancer Genetic Test Mean?
What Does a Positive Cancer Genetic Test Mean? If you have just received a positive cancer genetic test, you may be feeling relieved to finally have an answer—or frightened by what the result could mean.
You may also be asking:
- Does this mean my cancer was inherited?
- Does it mean I will develop another cancer?
- Could my children have the same genetic change?
- Does this change my cancer treatment?
- Should my brothers, sisters, or parents be tested?
- What should I do next?
A positive cancer genetic test can provide important information about your health and your family’s health. But positive does not mean certain.
In most cases, a positive result means that testing identified an inherited genetic change—usually called a pathogenic variant or likely pathogenic variant—that is associated with an increased risk of one or more cancers.
The meaning of that result depends heavily on which gene was affected, the specific variant, your cancer history, your family history, and the type of genetic testing you received.
A positive genetic test is a risk finding—not a prediction that you will definitely develop cancer.
I am a long-term survivor of an incurable blood cancer called multiple myeloma. Cancer diagnostic testing has come a long way since I was first diagnosed in 1994. The challenge is to understand what it all means.
Scroll down the page and post a question or a comment if there’s anything you’d like to know about breast cancer.
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David Emerson
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First: What Kind of Genetic Test Was Positive?
Before interpreting a positive result, find out exactly what was tested.
Cancer patients may encounter two very different types of genetic testing:
- Germline genetic testing
- Tumor genomic testing
These tests answer different questions.
Germline Genetic Testing
Germline testing looks for genetic changes that you inherited from a biological parent.
Blood or saliva is commonly used for this type of testing.
If a germline test identifies a pathogenic or likely pathogenic variant, that genetic change may be present in essentially all of the cells in your body and may have been inherited from one of your parents.
Because germline variants can be passed from parent to child, a positive result can have implications for biological relatives.
The National Cancer Institute estimates that inherited harmful genetic changes account for approximately 5%–10% of all cancers.
Tumor Genomic Testing
Tumor genomic testing looks at genetic changes in cancer cells.
These changes may have developed during your lifetime and may exist only in the tumor.
They can sometimes help doctors identify biomarkers that may influence treatment decisions.
A genetic change found in a tumor therefore does not automatically mean that you inherited that change.
The American Society of Clinical Oncology emphasizes that tumor genomic testing and germline testing are different and that tumor testing should not be considered a substitute for indicated germline testing.
This distinction is extremely important.
If your tumor report says that a mutation was found, ask:
“Is this mutation inherited, or is it only present in my tumor?”
A separate germline test may be necessary to answer that question.
What Does a Positive Germline Genetic Test Mean?
A positive germline test generally means that the laboratory identified a pathogenic or likely pathogenic variant associated with increased cancer risk.
That can mean several different things.
1. Your risk of certain cancers may be higher
Different genes are associated with different cancer risks.
For example, inherited pathogenic variants in BRCA1 and BRCA2 can increase the risk of several cancers.
Other genes are associated with hereditary cancer syndromes involving colorectal, endometrial, pancreatic, prostate, breast, ovarian, melanoma, or other cancers.
The important point is that the gene matters.
A positive BRCA1 test does not have the same implications as a positive Lynch-syndrome-associated gene, and neither necessarily has the same implications as a pathogenic variant in TP53, PALB2, ATM, CHEK2, or another cancer-associated gene.
Your result needs to be interpreted according to the specific gene and variant.
A Positive Test Does NOT Mean You Have Cancer
This may be the most important thing to understand.
A pathogenic inherited variant can increase your probability of developing certain cancers.
It does not necessarily mean that cancer is currently present.
And it does not mean that cancer will definitely develop in the future.
For example, the CDC has emphasized that hereditary cancer syndromes such as hereditary breast and ovarian cancer syndrome or Lynch syndrome increase cancer risk but do not mean that a person will definitely develop cancer.
Think of the result as a risk signal.
It tells you that your cancer risk may be different from that of someone without the inherited variant.
That information may allow you and your healthcare team to make different decisions about screening, prevention, and—in some circumstances—treatment.
Does a Positive Genetic Test Explain Why You Got Cancer?
Sometimes it can.
If you already have cancer and germline testing identifies a pathogenic variant associated with your cancer, the result may provide evidence that an inherited predisposition contributed to your cancer.
But genetics is complicated.
Cancer usually develops through a combination of genetic, environmental, biological, and other factors.
A positive test does not necessarily explain everything about why you developed cancer.
It also does not mean that you or your parents “caused” your cancer.
Genetic counseling can be particularly valuable when patients are struggling with questions about responsibility or guilt.
Could a Positive Genetic Test Change My Cancer Treatment?
Sometimes.
This is one reason genetic testing has become increasingly important in oncology.
Certain inherited genetic variants can influence treatment decisions.
For example, BRCA1 and BRCA2 pathogenic variants can be relevant to treatment decisions in certain breast, ovarian, pancreatic, and prostate cancers.
ASCO’s guideline on germline testing notes that inherited pathogenic variants can have implications for targeted cancer therapies, including therapies such as PARP inhibitors in appropriate clinical circumstances.
But a positive genetic test does not automatically mean that you should receive a particular drug.
Treatment decisions depend on:
- Your cancer type
- Stage
- Pathology
- Biomarkers
- Specific genetic variant
- Previous treatments
- Current treatment options
- Your overall health
- Clinical guidelines
Your oncologist should interpret the genetic result together with the rest of your cancer information.
BRCA 1/2 Genes Increase Myeloma Risk
Could a Positive Genetic Test Mean I Am at Risk for Another Cancer?
Yes.
This is another reason a positive result may be clinically important.
Some inherited cancer-predisposition genes increase the risk of more than one cancer.
If you have already been diagnosed with cancer, your doctors may use the genetic information to determine whether you should receive additional or more frequent screening for other cancers.
Depending on the gene involved, management might include:
- Earlier cancer screening
- More frequent screening
- Different screening tests
- Additional imaging
- Preventive medication in selected situations
- Risk-reducing surgery in selected situations
- Greater attention to symptoms
- Genetic counseling for relatives
The appropriate approach depends on the particular gene and your individual circumstances.
Cancer Genetic Testing- Are Patients Living Longer?
What Does a Positive Genetic Test Mean for My Children?
This is often the most emotional part of receiving a positive result.
If a pathogenic germline variant is inherited in an autosomal-dominant pattern, each biological child may have a 50% chance of inheriting the variant.
But inheriting the variant does not necessarily mean inheriting cancer.
It means inheriting the genetic change associated with increased risk.
The actual cancer risk depends on the gene, variant, sex, age, family history, and other factors.
Genetic counseling can help you understand the inheritance pattern associated with your particular result and determine whether testing adult relatives is appropriate.
Should My Family Members Be Tested?
Possibly—and this is one of the most important practical consequences of a positive germline result.
When a pathogenic variant has been identified in a family, biological relatives may be offered targeted genetic testing for that specific variant.
This is sometimes called cascade testing.
The advantage is that relatives do not necessarily have to undergo the same broad genetic panel that was used to identify the original result.
Instead, testing can sometimes focus on the known familial variant.
A relative who tests positive may benefit from appropriate cancer screening and risk-reduction strategies.
A relative who tests negative for the known familial variant may be able to avoid some of the enhanced surveillance associated with that specific inherited risk—although their personal and family history still matters.
ASCO emphasizes the importance of family history and the potential implications of germline testing for family members.
What About My Brothers, Sisters, and Parents?
Depending on the inheritance pattern, your parents, siblings, and children may be among the relatives who could potentially carry the same variant.
The best approach is usually not to tell relatives:
“You have the cancer gene.”
Instead, consider sharing the actual genetic report and encouraging relatives to speak with a genetic counselor or qualified healthcare professional.
A more accurate message is:
“My genetic testing found an inherited variant associated with increased risk for certain cancers. Because this can sometimes run in families, you may want to talk with a genetic counselor about whether testing makes sense for you.”
This gives relatives information without telling them what their own genetic status must be.
What If My Family Has No History of Cancer?
A lack of family history does not necessarily mean that a positive germline result is wrong.
Family history can be incomplete.
Some relatives may have died young from other causes. Others may have been adopted, may not know their biological family history, or may have had cancers that were never diagnosed or accurately documented.
Some pathogenic variants can also be identified in people whose family history does not obviously suggest hereditary cancer.
ASCO specifically notes that germline testing can identify clinically important pathogenic variants even when personal or family history does not clearly predict them.
What If My Genetic Report Says “Likely Pathogenic”?
You may see either:
- Pathogenic variant
- Likely pathogenic variant
on your laboratory report.
These terms are different from a variant of uncertain significance (VUS).
For clinical purposes, ASCO’s germline-testing guideline uses the term pathogenic variant to include both pathogenic and likely pathogenic variants when discussing cancer-predisposing variants.
Your genetic counselor or physician can explain exactly how your laboratory classified the variant and what that classification means for your care.
A Positive Result Is NOT the Same as a VUS
This distinction is extremely important.
A variant of uncertain significance (VUS) means that a genetic change has been identified but there is not enough evidence to determine whether it increases cancer risk.
A VUS is not equivalent to a positive pathogenic result.
In general, medical decisions should not be based solely on a VUS.
ASCO’s breast cancer germline-testing guideline specifically states that variants of uncertain significance should not affect management and that patients with VUS findings should be followed for possible reclassification.
If your report says “VUS,” ask your genetic counselor what that means before assuming that you have inherited a dangerous cancer mutation.
What Should I Do After a Positive Genetic Test?
Don’t panic—and don’t ignore it.
A positive result is usually the beginning of a conversation rather than the end of one.
Step 1: Get a Copy of the Full Report
Don’t rely only on someone telling you:
“Your genetic test was positive.”
Ask for the actual report.
You want to know:
- Which gene?
- Which variant?
- Pathogenic or likely pathogenic?
- Germline or tumor?
- What cancer risks are associated with the variant?
- What management recommendations apply?
Keep a copy with your medical records.
Step 2: Ask for Genetic Counseling
Genetic counselors specialize in helping patients understand genetic test results.
They can help explain:
- What the variant means
- Which cancers are associated with it
- How strongly it affects cancer risk
- What screening may be appropriate
- Whether preventive measures should be considered
- What the result means for relatives
- Whether family members should be tested
- How the result may affect reproductive decisions
The NCI recommends genetic counseling as part of the process of understanding inherited cancer-risk testing, particularly when a positive result is identified.
Step 3: Ask Your Oncologist Whether Treatment Should Change
If you currently have cancer, ask:
“Does this genetic result change any of my treatment options?”
The answer may be no.
But in some cancers, a germline pathogenic variant can provide clinically relevant information about treatment.
Don’t assume the result is either irrelevant or automatically treatment-changing.
Have the oncology team interpret it in the context of your specific cancer.
Cancer Genetic Testing as Therapy and Decision Tool
Step 4: Ask Whether Your Screening Should Change
Ask:
“Does this result mean I should be screened differently for cancer?”
Depending on the gene involved, the answer could include:
- Starting screening earlier
- Screening more frequently
- Adding another screening test
- Monitoring for another cancer
- Considering a risk-reducing procedure
The appropriate strategy is gene-specific.
Step 5: Discuss Family Testing
Ask:
“Which relatives should know about this result?”
A genetic counselor can help you determine which biological relatives may benefit from testing.
You may also want to obtain several copies of your genetic report so relatives can share it with their healthcare providers.
What Questions Should I Ask My Genetic Counselor?
Consider bringing these questions to your appointment:
- Which gene contains the pathogenic variant?
- What exactly is the variant?
- Is it classified as pathogenic or likely pathogenic?
- Which cancers are associated with this variant?
- How much does this variant increase my cancer risk?
- Does this result affect treatment of my current cancer?
- Does it change my screening recommendations?
- Am I at increased risk of another cancer?
- Should my children be tested?
- Should my brothers or sisters be tested?
- Should my parents be tested?
- Which relatives should be tested first?
- Should my relatives have targeted testing for this specific variant?
- Could this result affect reproductive decisions?
- How should I communicate this information to my family?
What If the Positive Result Was Found on a Tumor Test?
This situation requires special attention.
A tumor may contain a genetic variant that was acquired by the cancer rather than inherited.
Therefore:
A mutation found in your tumor does not automatically mean you inherited it.
If a tumor test identifies a pathogenic variant in a gene associated with hereditary cancer, your oncologist may recommend confirmatory germline testing.
ASCO specifically recommends germline testing in certain circumstances when tumor testing identifies pathogenic variants in genes associated with hereditary cancer risk.
This is one of the reasons patients should understand the difference between tumor genomic testing and germline genetic testing.
Does a Positive Genetic Test Mean My Children Will Get Cancer?
No.
This is worth repeating.
A child who inherits a pathogenic variant generally inherits an increased risk, not a diagnosis of cancer.
The level of risk varies dramatically from one gene to another.
Some hereditary cancer genes are associated with relatively high lifetime risks for particular cancers. Others confer more moderate increases in risk.
This is why genetic counseling is so important.
Your family deserves accurate information—not unnecessary fear.
Myeloma Diagnostics- Next-Generation Sequencing
Could My Genetic Result Change in the Future?
Genetic science continues to evolve.
Scientists learn more about genes and variants over time.
A variant that was once difficult to interpret may eventually be reclassified as researchers accumulate additional evidence.
This is particularly important when a report contains a VUS.
Your healthcare team or genetics professional can tell you whether your result should be periodically reviewed for changes in classification.
Can I Still Develop Cancer If My Genetic Test Is Positive?
Yes.
A positive genetic test does not mean that every cancer-prevention strategy will work.
It also does not guarantee that enhanced screening will detect every cancer early.
The purpose of identifying inherited cancer risk is to improve risk assessment and provide opportunities for earlier detection or risk reduction when appropriate.
It is not a guarantee of prevention.
Can I Still Develop Cancer If My Genetic Test Is Negative?
Yes.
This is another important point.
A negative genetic test does not mean that your overall cancer risk is zero.
Testing examines specific genes using currently available technology.
There may be genetic risk factors that current testing cannot identify.
In addition, environmental exposures, lifestyle factors, chance, aging, and other biological factors contribute to cancer risk.
ASCO emphasizes that people can remain at increased cancer risk based on their personal or family history even when germline testing does not identify a pathogenic variant.
So:
Positive genetic test ≠ certain cancer
and
Negative genetic test ≠ zero cancer risk
The Family Benefit of a Positive Genetic Test
It is understandable to initially view a positive result as bad news.
But there is another way to think about it.
If an inherited cancer-predisposition variant is discovered, your family may now have information that was previously unavailable.
A relative who discovers that they carry the same variant may be able to:
- Begin screening earlier
- Screen more frequently
- Consider appropriate risk-reduction strategies
- Make more informed healthcare decisions
- Share the information with their own children
A relative who does not carry the known familial variant may receive important reassurance as well.
In that sense, genetic information can extend beyond the individual who was tested.
Inherited Risk of Multiple Myeloma?
What Does a Positive Cancer Genetic Test Mean? The Bottom Line
A positive cancer genetic test can sound frightening.
But the word positive does not mean:
“You have cancer.”
It does not mean:
“You will definitely get cancer.”
And it does not mean:
“Your children will get cancer.”
Instead, a positive germline cancer genetic test generally means that you carry an inherited pathogenic or likely pathogenic variant associated with increased risk of certain cancers.
The most important next steps are to determine:
- Which gene is affected?
- What specific variant was found?
- What cancers are associated with it?
- How much does it increase your risk?
- Does it affect treatment of your current cancer?
- Does it change your cancer screening?
- Should your biological relatives receive genetic counseling or testing?
And remember the distinction:
- Germline testing asks, “Did I inherit a cancer-risk genetic change?”
- Tumor genomic testing asks, “What genetic changes are present in my cancer?”
Sometimes cancer patients need one.
Sometimes they need both.
If you have received a positive result, don’t try to interpret the report by yourself. Ask your oncologist or a qualified genetic counselor to explain what the result means for you, your cancer, and your family.
PeopleBeatingCancer Evidence Rating
Evidence Rating: High for the basic interpretation of a positive germline genetic test.
There is strong consensus from the National Cancer Institute and professional oncology organizations that pathogenic/likely pathogenic germline variants can identify increased cancer risk, inform selected treatment and screening decisions, and provide potentially important information for biological relatives.
Important limitation: The actual cancer risk and appropriate medical management depend on the specific gene, variant, cancer diagnosis, family history, and other individual factors. A positive result should therefore be interpreted by qualified healthcare professionals rather than treated as a universal prediction of cancer.
Research and Patient Resources
National Cancer Institute — Genetic Testing for Inherited Cancer Risk
NCI: Genetic Testing Fact Sheet
This is the best general patient resource for understanding positive, negative, and VUS results.
American Society of Clinical Oncology — Selection of Germline Genetic Testing Panels in Patients With Cancer
ASCO Guideline
Particularly useful for understanding germline testing, family history, multigene panels, tumor testing, and the relationship between genetic findings and cancer treatment.
National Cancer Institute — BRCA Gene Changes: Cancer Risk and Genetic Testing
NCI BRCA Fact Sheet
Useful for a concrete example of what a positive inherited cancer-risk result can mean.
ASCO–SSO — Germline Testing in Patients With Breast Cancer
ASCO–SSO Breast Cancer Guideline
Useful for explaining why pathogenic variants and VUS findings must be interpreted differently.