Medical Oncologist
CION Cancer Clinics
Cancer genetics glossary: the words on your report, explained | CION Cancer Clinics
A genetic report uses words most families have never heard before. This glossary explains the ones you are most likely to meet, in plain language, grouped by what they describe: the gene, the change, the verdict and the family. It will help you follow the conversation with your genetic counsellor. It cannot tell you what your own result means for you. At CION Cancer Clinics in Hyderabad, our oncologists review your family history with you and guide you to the right genetic counselling and testing.
NG
Medically reviewed by Dr. Naresh GunduConsultant Medical Oncologist · MBBS, DNB (Internal Medicine), DM (Medical Oncology, AIIMS) · last reviewed September 2026, next review due September 2027
17+specialists on panel
15,000+patients treated
35+centres across Telangana & AP
4.8★ / 800+Google rating
On this page
- What do the words on a genetic report actually mean?
- Which part of the report is each word describing?
- In what order should I read my report?
- The terms you are most likely to see, in plain language
- Which pairs of words do families most often mix up?
- What this glossary cannot tell you
- Four words that are often taken the wrong way
- Common questions about genetic report words
The short answer
What do the words on a genetic report actually mean?
Most words on a genetic report describe one of four things: the gene that was read, the change found in it, how sure the laboratory is that the change matters, and how it could pass through a family. Once you know which of the four a word belongs to, the report becomes much easier to follow.
Why the words feel so unfamiliar
Genetic reports are written by laboratory scientists for the doctor who ordered the test. They are precise because a single word can change what a family is told. That precision is useful, but it means ordinary English words, such as variant or significance, carry a narrower meaning than they do in daily speech.
How to use this glossary
Keep your report beside you and look up each unfamiliar word as you meet it. Write down anything that still does not make sense. Those notes make the best questions to take to your genetic counsellor, who can explain what each word means for your own result.
Knowing the words helps you follow the conversation. It does not replace it.Four kinds of word
Which part of the report is each word describing?
Almost every term on a report falls into one of four groups. Sorting a word into its group is often enough to see why it is there.
Words about the gene
These name the instruction that was read. The gene name, written in capitals such as BRCA1 or MLH1, tells you which one. Words like exon and transcript describe exactly which part of that gene was looked at.
You will see
- The gene name
- An exon number
- A transcript reference code
Words about the change
These describe what differs from the usual spelling. Variant is the neutral word. Deletion, duplication and missense describe the kind of change, rather like saying a letter was dropped, repeated or swapped.
Words about the verdict
These say how confident the laboratory is that the change matters. Five standard labels run from harmful to harmless. The middle one means the evidence is not yet strong enough either way.
The five labels
- Pathogenic
- Likely pathogenic
- Uncertain significance
- Likely benign
- Benign
Words about the family
These describe how a change travels between relatives. Dominant, recessive, carrier and cascade testing all belong here. They matter most when brothers, sisters and grown children start asking whether they should be tested too.
Not sure whether this applies to you?
Ask an oncologistReading a report
In what order should I read my report?
Start with the headline result
Most reports open with a short summary saying whether a change was found and how it was classified. Read that line first and hold on to the classification word. Everything else on the report explains it.
Find the gene name
Next, note which gene the change is in. The same label means different things in different genes, because each gene is linked to different cancers and to different levels of risk.
Check the zygosity
This word says whether the change sits on one copy of the gene or on both. For most inherited cancer genes, one copy is the usual finding. A change on both copies points to a different, often rarer, condition.
Read the interpretation paragraph
Near the end, the laboratory explains its reasoning. This part is written for a doctor, and it is the part most worth going through with your counsellor, line by line.
The core words
The terms you are most likely to see, in plain language
- Germline
- Present in every cell from birth, and so able to pass to children. This part of the site covers germline testing only.
- Somatic
- Found only inside the tumour and never inherited. Tumour testing is explained in our targeted therapy section.
- Variant
- A spelling difference in a gene. Most are harmless and simply make people different from each other.
- Pathogenic
- A change known to break the gene's instruction and raise the risk of certain cancers.
- VUS
- Short for variant of uncertain significance. Nobody can yet say whether it matters, so it should not guide treatment.
- Penetrance
- How often a change leads to cancer across everyone who carries it. It is never all of them.
- Carrier
- Someone who has the change, whether or not they have ever had cancer.
- Cascade testing
- Offering a test for a known family change to relatives, one step outwards at a time.
- Pedigree
- The family tree your counsellor draws, marking who had which cancer and roughly when.
Leave a number, we will call you
One field. No form to fill in, and no charge for the call.
Easily confused
Which pairs of words do families most often mix up?
This word
Is not the same as
Germline: inherited, in every cell
Somatic: only in the tumour, never passed on
Carrier: has the change
Patient: has cancer
Negative: no change found in the genes tested
Normal: no raised risk at all
Uncertain significance: not yet known
Positive: a known harmful change
Familial: more cancer than expected, no gene found
Hereditary: a specific inherited change identified
Being straight with you
What this glossary cannot tell you
It cannot tell you what your own result means. A word like pathogenic has a fixed meaning, but what it means for you depends on the gene, the exact change, your own history and your family tree. What your specific variant means is a question for the counsellor who ordered the test.
It cannot replace the interpretation paragraph
Laboratories sometimes word things slightly differently, and older reports may use terms that have since changed. If a word on your report is not here, or seems to be used differently, ask rather than guess. Searching for a variant online tends to produce frightening and often outdated answers.
Who this page is not for
Most people never need a genetic report, and this page will not help you decide whether you should have one. If that is your question, start with a plain check of your family history instead. If the English words themselves are the barrier, counselling in Telugu is available.
Commonly misread
Four words that are often taken the wrong way
"Negative means nobody in my family can have an inherited fault."
A negative result means no change was found in the genes that were tested. If the relative who had cancer was never tested, a negative result in a well person may simply be uninformative. Your counsellor will say which kind of negative you have.
"Uncertain significance means they found something bad."
It means a difference was found and nobody yet knows what it does. Many such changes are later reclassified as harmless. On its own it should not change treatment or lead to preventive surgery.
"Carrier means I have cancer."
A carrier has the change. Many carriers never develop cancer, and nobody is treated simply for carrying one. What a carrier may need is closer watching, planned with a doctor.
"Mutation means something went wrong with the parents."
Changes in genes are part of how every family is made. Nobody chose it, nobody caused it, and it is nobody's fault. Laboratories now prefer the calmer word variant partly for this reason.
Questions we are asked
Common questions about genetic report words
Why does my report say variant instead of mutation?
Variant is the neutral word laboratories now use for any difference in a gene's spelling. Mutation was the older word, and many people found it alarming. The label that sits beside the word variant is what tells you whether it matters. A pathogenic variant is what people used to call a harmful mutation.
What is the difference between pathogenic and likely pathogenic?
Both mean the laboratory believes the change is harmful. Likely pathogenic means the evidence is strong but falls just short of the highest bar. In practice doctors usually manage both the same way, and relatives can usually be offered testing. Your counsellor will confirm whether that applies to your family.
What does heterozygous mean on my report?
It means the change was found on one of your two copies of the gene. That is the usual finding in inherited cancer, because most of these genes need only one faulty copy to raise risk. Homozygous means both copies carry the same change, which points to a different situation your counsellor will explain.
What do the letters and numbers in a gene name mean?
They are simply the gene's name, written in capitals and often in italics, such as BRCA2 or MSH2. The numbers are part of the name and are not a score or a level of risk. The same letters in plain type sometimes refer to the protein the gene makes.
What is a transcript code, and do I need it?
It is a reference that tells other laboratories exactly which version of the gene's spelling was used to describe your change. You do not need to understand it. Keep it safe, though, because it lets relatives be tested for precisely the same change later.
Does familial mean the same as hereditary?
No. Familial means more cancer in a family than expected, with no single faulty gene found to explain it. Hereditary means a specific inherited change has been identified. Both families are watched closely, but only a hereditary family has a change that relatives can be tested for.
Is there a version of this glossary in Telugu?
Yes. The Telugu glossary gives the same key words with plain explanations in Telugu, so the whole family can read them. Many of these terms have no everyday Telugu word, so counsellors often use the English term with a Telugu explanation beside it.
Who can explain a word that is not on this page?
Your genetic counsellor, or the oncologist who ordered the test. Write the word down exactly as it appears, with the line it came from. Call the CION helpline if you are not sure who to ask, and someone will point you to the right clinic.
Your Specialists
Meet CION's oncologists. Bring your family history or genetic report to them.
Our medical oncologists see people with a strong family history of cancer, arrange genetic counselling and testing where it fits, and plan the checks that follow.
Medical Oncologist
Dr. C. Raghavendra Reddy
MBBS(Gold Medal), DNB(General Medicine), DM(Medical Oncology)(Gold Medal)
Medical Oncologist
Dr. Bharati Devi Gorantla
MBBS, MD(General Medicine), DM(Medical Oncology)(Adyar,Chennai), ECMO, MRCP SCE(UK)
Medical Oncologist
Dr. Owais Mohammed
MBBS, MD (General Medicine), DrNB (Medical Oncology), ECMO, MRCP SCE (Medical Oncology) (UK)
Medical Oncologist
Medical Oncologist
Want a specific doctor for your case? Mention them when booking.
Book Free ConsultationBook an appointment with our specialist
Share your name and number — we'll call you back within 30 minutes to schedule your consultation.
Sources
- National Cancer Institute — NCI Dictionary of Genetics Terms
- National Human Genome Research Institute — Talking Glossary of Genomic and Genetic Terms
- MedlinePlus Genetics — Help Me Understand Genetics
- Genetics in Medicine (ACMG/AMP) — Standards and guidelines for the interpretation of sequence variants
This page is general information, not a prescription. Do not change or stop any treatment based on what you read here. If anything is worrying you, contact your own treating team — or call our helpline and we will help you reach the right specialist.
Keep reading
Related pages
Cancer genetics glossary in TeluguThe same key words, explained in Telugu for the whole familyHow to read a genetic reportPut the words together and walk through a real report layoutThe five classificationsWhat each verdict label means, from pathogenic to benignCancer genetics explainedThe big picture before the vocabulary
Talk to us
Stuck on a word in your report?
Tell us the word and where it appears, and we will arrange for a genetic counsellor to explain it in English or Telugu. One helpline serves every CION centre.