Medical Oncologist
CION Cancer Clinics
Testing the family for PTCH1 and SUFU: who, when and why | CION Cancer Clinics
When one person is found to carry a PTCH1 or SUFU fault, their parents, brothers, sisters and children can each be tested for that exact fault. A negative result in a relative usually means they need no Gorlin checks at all. This page explains who is tested first, why children are often tested early, what a new fault in the family means, and how the conversations are usually handled. 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 PTCH1 or SUFU?
- What does testing mean for each person in the family?
- What happens when a relative decides to be tested?
- What do the words about family testing mean?
- What changes after a relative's result?
- What this page cannot tell you
- Four things families say before testing
- Common questions about testing the family
The short answer
Who in the family should be tested for PTCH1 or SUFU?
The parents, brothers, sisters and children of the person who carries the fault come first. Each of them can be tested for that one exact fault. A PTCH1 or SUFU fault is passed on in a dominant way, which means each child of a carrier has a one-in-two chance of inheriting it.
Why children are often tested early here
For many cancer genes, testing waits until a child is an adult. Gorlin syndrome is different, because some of its problems start in childhood. A SUFU child may need brain scans in the first years of life, and jaw cysts can appear before the teenage years. A negative result spares a child years of checks and the worry that goes with them.
When neither parent carries it
In a real share of families, the fault appeared for the first time in the person who has it. It was not passed down. When both parents test negative, brothers and sisters are very unlikely to carry it. That person's own children still have the same one-in-two chance.
Relatives are tested for the family's known fault, not for every gene. That keeps the result clear.Relative by relative
What does testing mean for each person in the family?
The same test answers a slightly different question depending on who is taking it.
A parent
Testing the parents tells you which side the fault came from, or whether it is new. A parent can carry it with very few signs. If one parent is positive, that parent's brothers and sisters become the next people to offer testing.
A brother or sister
If a parent carries the fault, each sibling has a one-in-two chance, separately. One sibling's result says nothing about another's. Each person needs their own test.
A child
Children of a carrier are usually offered testing early, with the parents deciding. The result decides whether the child enters a surveillance plan.
A positive child usually needs
- A named doctor who owns the plan
- Brain MRI in early childhood, if SUFU
- Dental and skin checks as they grow
- Strict sun protection from the start
The wider family
Aunts, uncles and cousins are offered testing only on the side the fault came from. Testing spreads outward one step at a time, following each positive result.
Not sure whether this applies to you?
Ask an oncologistHow it usually runs
What happens when a relative decides to be tested?
The carrier shares the result
The person who tested positive is usually given a family letter. It names the gene and the exact fault, so a relative's doctor knows precisely what to look for.
The relative sees a counsellor
Before the test, the relative talks through what a positive or negative result would change for them. For a child, the parents have this conversation. It can be held in Telugu.
A blood or saliva sample
The laboratory checks only the family's known fault. This is usually quicker and cheaper than the first person's test, which had to search the whole gene.
The result and the plan
A negative result usually ends the matter for that person. A positive result leads to a surveillance plan matched to their age and gene.
On the letter
What do the words about family testing mean?
- Cascade testing
- Testing relatives step by step, starting with the closest, for a fault already found in the family.
- Dominant inheritance
- One faulty copy is enough to cause the condition. Each child of a carrier has a one-in-two chance of inheriting it.
- De novo
- A fault that is new in this person. Neither parent carries it.
- Mosaicism
- A fault present in only some of a person's cells. It can make a parent test negative in blood yet still pass the fault on.
- Known familial variant
- The exact spelling change found in the first person tested. It is what every relative is checked for.
- Predictive test
- A test in someone who is well, to see whether they carry the family's fault.
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Side by side
What changes after a relative's result?
The relative tests positive
The relative tests negative
A surveillance plan starts, matched to age and gene
No Gorlin surveillance is needed
X-rays and CT scans are kept to a minimum
Ordinary medical care applies
Their own children can be offered testing
Their children cannot inherit it from them
Family planning choices can be discussed
Nothing more to decide on this fault
Being straight with you
What this page cannot tell you
It cannot tell you who in your family carries the fault. Only a test can do that. It also cannot interpret your family's report. What your specific variant means is a question for the counsellor who ordered the test.
Who this does not apply to
Family testing only works when a clear, harmful fault has been found. If the first test found nothing, or found a variant of uncertain significance, meaning the laboratory cannot yet say whether it matters, testing relatives for it will not answer anything. Most families never need this page at all.
The conversations that are hard
Some families worry that a result will affect a marriage proposal. Others have relatives who do not speak to each other. A result is private medical information, and who is told is the carrier's decision. India has no dedicated law against genetic discrimination, so it is fair to ask a counsellor about privacy before anyone is tested.
Tumour testing is a separate question and lives under targeted therapy, not here.Commonly believed
Four things families say before testing
"Our child looks perfectly healthy, so they cannot have it."
Many signs of Gorlin syndrome are small or appear later, such as tiny pits on the palms or jaw cysts. A healthy-looking child can still carry the fault. Only the test can say.
"I have never had a skin cancer, so I cannot be a carrier."
Features vary widely, even within one family. Some carriers have many skin cancers and others have very few.
"Testing a small child is too early."
For Gorlin syndrome the result changes childhood care: brain scans for SUFU children, dental checks, sun protection and fewer X-rays. Waiting can mean missing the years that matter.
"My sister tested negative, so I must be negative too."
Each child's chance is separate. One sibling's result says nothing about another's.
Questions we are asked
Common questions about testing the family
Is a relative's test the same as the first test?
No. The first person's test had to search the whole gene. A relative's test looks only for the fault already found, so it is usually quicker and costs less. Bring the family letter or the original report, because the laboratory needs the exact variant name.
Does my child need a blood test?
Usually a small blood sample is used. Saliva or a cheek swab is sometimes possible. Ask the counsellor which sample the laboratory accepts, especially for a very young child.
My parent has no signs at all. Should they still be tested?
Yes, if they are willing. A parent can carry the fault with very few signs. Their result tells you which side of the family to follow, and whether their other relatives should be offered testing too.
What if the family fault was never found?
If the affected person was diagnosed on signs alone, the first step is usually to test them. Without a known fault, relatives cannot be given a clear yes or no, and are checked on their signs instead. A counsellor can advise what is possible.
How do I tell my relatives?
Many people share the family letter and let each relative decide for themselves. You do not have to do it alone. A counsellor can help you plan what to say, and can speak with relatives directly if they ask, in Telugu if they prefer.
Can a pregnancy be tested?
Once the family fault is known, testing in pregnancy or during IVF can be possible. In India this is done through licensed centres and follows the law on prenatal testing. It needs a careful conversation with a counsellor well before a pregnancy.
Could a result affect marriage or insurance?
It is a real worry for many families. India has no dedicated law on genetic discrimination, and a result is private medical information. Discuss who will see the report, and any cover you want to arrange, with the counsellor before testing.
What if my child tests negative?
Then your child does not carry the family's fault and needs no Gorlin surveillance. Ordinary dental care and sensible sun protection are still good habits. Keep the report safely, because a future doctor may ask to see it.
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
- GeneReviews (NCBI) — Nevoid Basal Cell Carcinoma Syndrome
- MedlinePlus Genetics — Gorlin syndrome
- MedlinePlus Genetics — PTCH1 gene
- 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.
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Not sure which relatives to test first?
Share the report and a rough family tree, and we will help you work out who to offer testing to and in what order. One helpline serves every CION centre.