Medical Oncologist
CION Cancer Clinics
CDK4, MITF or POT1 in the family: who should be tested | CION Cancer Clinics
When one person carries a CDK4, MITF or POT1 fault, their parents, brothers, sisters and adult children each have a one in two chance of carrying it too. For CDK4 and POT1, relatives are usually offered a test for that exact change. For the milder MITF change it is discussed case by case. This page explains who is tested, in what order and what each result changes. At CION Cancer Clinics, our oncologists explain what a gene result means for you and your family, and plan the checks that follow.
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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
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On this page
- Who in the family should be tested for CDK4, MITF or POT1?
- Which relatives are offered a test, and why?
- How does family testing actually happen?
- What do the words on a family letter mean?
- What a relative's result changes
- What can this page not tell you?
- What do families assume about testing relatives?
- Common questions about testing the family
The short answer
Who in the family should be tested for CDK4, MITF or POT1?
Once a fault is found, the carrier's parents, brothers, sisters and adult children are offered a test for that exact change. Each has a one in two chance of carrying it. For CDK4 and POT1 this is usually recommended. For the milder MITF change it is discussed case by case.
Why the gene changes the advice
A CDK4 or POT1 fault raises risk clearly, so knowing who carries it changes who needs close skin checks. The common MITF change raises risk only modestly. In many MITF families, relatives are advised to have skin checks based on the family history anyway, so a test may change little. Your counsellor will explain which situation you are in.
Men and women alike
These faults pass from fathers as often as from mothers, and sons are as likely to inherit them as daughters. Melanoma risk applies to both. Leaving the men out of family testing is a common gap.
Testing is a personal choice. Every relative decides for themselves, after their own counselling.Relative by relative
Which relatives are offered a test, and why?
Testing moves out from the carrier one circle at a time. Closer relatives come first.
Brothers and sisters
Each has an even chance of carrying the fault. They are usually the first to be offered a test, especially if any of them has many moles or has had a suspicious spot removed.
Parents
A parent's result shows which side the fault came from. That tells the family whose aunts, uncles and cousins should be offered testing next, and whose need not be.
Sons and daughters
Adult children can choose testing. For younger children, testing usually waits, because sun protection and skin awareness are advised in a melanoma family whatever the result.
For every child in the family
- Avoid sunburn
- Learn what their own moles look like
- Show a parent any new or changing spot
The wider family
Aunts, uncles and cousins on the carrier's side come next. Where cousins have married within the family, mention it, so the counsellor checks both sides of the tree.
Not sure whether this applies to you?
Ask an oncologistHow it works
How does family testing actually happen?
The carrier shares a family letter
Your counsellor gives you a letter naming the gene and the exact change. You choose who receives it. Relatives abroad can take it to any genetics service.
Each relative has their own counselling
Before a sample is taken, each person talks through what either result would mean for them, including marriage, work and insurance. Deciding to wait is allowed.
A sample for the known change
A blood or saliva sample is tested for the one change on the family report. It is quicker and costs far less than the first test in the family.
A skin check, whatever the result
Many relatives are offered a full skin check at the same time. What happens next depends on the result, the moles found and the family history.
On the letter
What do the words on a family letter mean?
- Cascade testing
- Testing relatives step by step, starting with the closest, for a fault already found in the family.
- Familial variant
- The exact gene change found in your family. Relatives are tested for this change only.
- Predictive test
- A test in someone who is well, to find out whether they carry the family fault before any cancer appears.
- Full skin check
- An examination of the whole skin by a specialist, including the scalp, soles, palms and nails.
- Mole mapping
- Photographs of the skin kept on record, so new or changing moles can be spotted at the next visit.
- True negative
- A relative who does not carry the known family fault. The extra risk from this gene does not apply to them.
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Side by side
What a relative's result changes
Carries the family fault
Does not carry it
Offered regular full skin checks
Skin checks guided by their own moles and history
POT1 carriers may discuss checks for other cancers
No extra checks needed for this gene
Each child has an even chance of inheriting it
Children cannot inherit it from this person
Their own brothers and sisters may be offered testing
Testing stops on this branch of the family
Being straight with you
What can this page not tell you?
It cannot tell you who in your own family should be tested next. That depends on which gene was found, who is alive, who has had melanoma and which side the fault came from. A genetic counsellor works this out from your family tree and the original report.
It cannot read the family report
Family testing only makes sense when the change is clearly harmful. What your specific variant means is a question for the counsellor who ordered the test.
Who this does not apply to
If the family result was a variant of uncertain significance, meaning the lab could not say whether it matters, relatives are usually not tested for it. If the first test found nothing, relatives are guided by the family history instead. Testing a melanoma to choose treatment is a different test, covered under targeted therapy.
Studies of these genes in Indian families are small. Ask how firm the advice for your relatives is.Commonly believed
What do families assume about testing relatives?
"My sister tested negative, so I am negative too."
Brothers and sisters inherit genes separately. One sibling's result tells you nothing about another's. Each person needs their own test.
"He has dark skin and few moles, so he need not bother."
Skin colour and moles change the size of the risk, not whether the fault is there. Melanoma in Indian patients often starts on the soles or nails, away from the sun.
"A negative result means I can forget about my skin."
It removes the extra risk from this gene. Many moles, past sunburn and shared habits still count, so sensible sun care and a look at your own skin remain wise.
"We should test the little ones now, to be safe."
Children in a melanoma family are protected the same way whatever the result. Testing usually waits until they are old enough to take part in the decision.
Questions we are asked
Common questions about testing the family
At what age can a child be tested?
Usually once they are an adult and can decide for themselves. Until then, sun protection and learning to check their own skin are advised for every child in the family. Your counsellor will say if your family pattern suggests a different approach.
If I test negative, do I still need skin checks?
Not the close checks advised for carriers. Whether you need any checks depends on your own moles, skin type and sunburn history. Someone with many unusual moles may still be advised to see a skin specialist.
Do relatives need testing if our gene is MITF?
It is discussed case by case. The common MITF change raises risk only modestly, and relatives in a melanoma family are often advised skin checks based on the family history anyway. Some still find a clear answer helpful. Your counsellor will talk it through.
My relatives live abroad. Do they need to come here?
No. A test for a known family change can be done by a genetics service in their own country. They will need a copy of the original report so the lab knows exactly which change to look for.
What if a relative does not want to know?
That is their right. Give them the family letter so they can decide later. Even without testing, they can still protect their skin and ask for a skin check if any mole looks new or is changing.
Can relatives be tested if our result was uncertain?
Usually not. A variant of uncertain significance is not treated as a fault, so testing relatives for it would not guide their care. If the lab later reclassifies it as harmful, family testing can start then.
Should we mention this when arranging a marriage?
There is no single right answer, and families often ask. A counsellor can help you think through timing and wording. For most of these genes, a carrier leads an ordinary life with regular skin checks, which is worth explaining clearly.
Will a relative's result affect their insurance?
India has no dedicated law on genetic discrimination in insurance, and the position has been argued in court rather than settled. It is a fair question to raise before testing, not afterwards, and one reason some relatives arrange cover first.
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
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Sources
- National Cancer Institute — Genetics of Skin Cancer (PDQ) – Health Professional Version
- MedlinePlus Genetics — Melanoma
- NHS — Predictive genetic tests for cancer risk genes
- National Cancer Institute — Genetic Testing for Inherited Cancer Susceptibility Syndromes
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
CDK4, MITF or POT1 positive: what happens nextThe checks for a relative who tests positiveCDK4, MITF and POT1: which cancers and what riskHow much each gene raises riskCDK4, MITF and POT1: what the genes doThe genes themselves, in plain wordsSkin surveillance protocolsWhat a carrier's skin checks involve
Talk to us
Not sure which relatives to tell first?
Bring the family report and a rough family tree. A counsellor will help you decide who to offer testing, in what order, and how to share the news. One helpline serves every CION centre.