Medical Oncologist
CION Cancer Clinics
CEBPA, DDX41, ETV6 and ANKRD26: which cancers, and how much risk | CION Cancer Clinics
An inherited fault in CEBPA, DDX41, ETV6 or ANKRD26 raises the risk of cancers that start in the bone marrow, mainly acute myeloid leukaemia and myelodysplastic syndrome. How high the risk is, and at what age, differs a great deal between the four genes. This page sets out which cancers each gene is linked to, when they tend to appear, and why a precise figure is hard to give. 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. Basudev PokhrelConsultant Haematologist · last reviewed September 2026, next review due September 2027
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On this page
- Which cancers do these four genes raise the risk of?
- How much risk does each gene carry?
- At what age does each risk usually appear?
- What do the risk words on your report mean?
- The four genes compared at a glance
- What this page cannot tell you
- Four things families assume about these risks
- Common questions about the cancer risks of these genes
The short answer
Which cancers do these four genes raise the risk of?
Mainly blood cancers that start in the bone marrow. The two main ones are acute myeloid leukaemia, a fast-growing marrow cancer, and myelodysplastic syndrome, where the marrow makes faulty blood cells. ETV6 also raises the chance of a childhood leukaemia called acute lymphoblastic leukaemia.
The size of the risk differs by gene
CEBPA carries the highest chance by far, and its leukaemia can start in childhood or young adult life. DDX41 raises risk more modestly, and mostly late in life. ETV6 and ANKRD26 cause a low platelet count, with a raised but smaller chance of a marrow cancer later on.
What these genes are not linked to
They are not known to clearly raise the risk of solid cancers such as breast, bowel or lung cancer. A carrier does not usually need extra scans for those. The watching is done through the blood, by a haematologist, a doctor who specialises in blood disorders.
A raised risk is not a diagnosis. For DDX41, ETV6 and ANKRD26, many carriers never develop a blood cancer.Gene by gene
How much risk does each gene carry?
The four genes share a page because they are tested together. Their risks are quite different.
CEBPA
The highest risk of the four. Most people with an inherited CEBPA fault develop acute myeloid leukaemia at some point, often in childhood or young adult life. There is usually no warning sign in the blood count beforehand. After successful treatment, a new and separate leukaemia can arise years later.
DDX41
The one found most often. Leukaemia or myelodysplastic syndrome usually appears late in life, around the same age as ordinary leukaemia, and men seem to be affected more often. Many carriers stay well, and many have no relative with a known blood cancer.
ETV6
Carriers usually have a low platelet count from early life, with easy bruising or nosebleeds. The chance of blood cancer is raised, including acute lymphoblastic leukaemia in childhood and myeloid cancers in adults. Studies so far are small.
ANKRD26
A lifelong low platelet count, often mild and found by chance. The chance of myelodysplastic syndrome or acute myeloid leukaemia later in life is raised, though most carriers never develop either.
Often mistaken for
- Immune low platelets, treated for years
- A family tendency to bruise, never tested
Not sure whether this applies to you?
Ask an oncologistAcross a lifetime
At what age does each risk usually appear?
-
From birth
ETV6 and ANKRD26 carriers may already have a low platelet count. It is often mild and found only when a blood test is done for another reason.
-
Childhood and teenage years
ETV6 carriers have a raised chance of acute lymphoblastic leukaemia. CEBPA leukaemia can also begin at this age, usually without any earlier warning in the blood.
-
Young adult life
This is when many CEBPA leukaemias appear. Carriers of the other three genes are usually well, apart from any low platelet count.
-
Middle age
ANKRD26 and ETV6 carriers may begin to show myeloid problems, such as myelodysplastic syndrome. A slow fall in blood counts can be the first clue.
-
Later life
DDX41 cancers mostly appear in the sixties and beyond. Because that is also when ordinary leukaemia is common, the inherited cause is often missed unless someone thinks to look.
On your report
What do the risk words on your report mean?
- Penetrance
- How often a fault leads to cancer across everyone who carries it. It is high for CEBPA and lower for the other three.
- Lifetime risk
- The chance of developing a cancer at any point up to old age. It is not the chance of it happening this year.
- Myelodysplastic syndrome
- A marrow condition in which blood cells are made badly. It can stay steady for years or turn into leukaemia.
- Acute lymphoblastic leukaemia
- A fast-growing cancer of young lymphocytes, a type of white cell. It is the commonest childhood leukaemia.
- Second hit
- A new change in one marrow cell during life, on top of the inherited fault. It is usually what tips a cell towards cancer.
- Somatic
- A change found only in the cancer cells, not present from birth. It cannot be passed on to children.
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Side by side
The four genes compared at a glance
Gene
Main risk, and when
CEBPA
A high chance of acute myeloid leukaemia, often at a young age
DDX41
A raised risk of myelodysplastic syndrome or leukaemia, mostly later in life
ETV6
Low platelets, and a raised risk of childhood and adult blood cancers
ANKRD26
Low platelets, and a raised risk of marrow cancer in adult life
All four
No clear rise in solid cancers such as breast or bowel
Being straight with you
What this page cannot tell you
It cannot put a number on your own risk. Risk differs by gene, by the exact variant and between families. What your specific variant means is a question for the counsellor or haematologist who ordered the test.
Why precise figures are hard to find
These genes were recognised as inherited causes of blood cancer only recently. The families studied so far are few, and very few are from India. Many early estimates came from families with several affected relatives, which can make a gene look riskier than it is. Be wary of anyone who gives you a precise percentage.
Who this does not apply to
Most people with leukaemia do not carry an inherited fault in any of these genes. If one of them appeared only on a leukaemia report, it may be a somatic change in the cancer cells. That belongs with your treating team and our targeted therapy pages. Relatives who tested negative for the family fault do not carry this risk.
A germline test in someone with leukaemia usually needs a small skin sample, because blood can contain leukaemia cells.Commonly believed
Four things families assume about these risks
"A low platelet count since childhood means leukaemia is coming."
For ETV6 and ANKRD26, the low count is the usual, lifelong feature. It is not leukaemia, and most carriers never develop a blood cancer. What matters is a change from your usual count.
"Leukaemia after sixty cannot be inherited."
DDX41 is the clearest example that it can. Its cancers usually appear late in life, so an older age at diagnosis does not rule out a family fault.
"If CEBPA leukaemia comes back, treatment has failed."
A later leukaemia in a CEBPA carrier is often a new, separate cancer rather than a return of the first. It may respond to treatment again, which is one reason long-term follow-up matters.
"Carriers should have scans for every other cancer too."
These genes are not known to clearly raise solid cancer risk. Watching is done with blood counts, and ordinary screening for your age still applies.
Questions we are asked
Common questions about the cancer risks of these genes
Will I definitely get leukaemia if I carry one of these faults?
It depends on the gene. With CEBPA the chance is high. With DDX41, ETV6 and ANKRD26 the risk is raised, but many carriers stay well for life. None of these results is a diagnosis, and your haematologist will explain what applies to you.
Which of the four is the most serious?
CEBPA carries the highest chance of leukaemia and can affect young people. DDX41 is the most common but mostly affects older adults. ETV6 and ANKRD26 are chiefly known for low platelets, with a smaller raised chance of marrow cancer.
Do men and women carry the same risk?
Sons and daughters of a carrier have the same one in two chance of inheriting the fault. For DDX41, men seem to develop blood cancers more often than women who carry it. For the other three, no clear difference has been shown.
Does the fault make leukaemia harder to treat?
Not necessarily. Some inherited leukaemias respond well to standard treatment. The bigger difference comes with a stem cell transplant, because a brother or sister who carries the same fault should not be the donor.
Can children be affected?
Yes, for some of these genes. CEBPA leukaemia can start in childhood, ETV6 raises the chance of a childhood leukaemia, and ETV6 and ANKRD26 cause low platelets from birth. DDX41 problems usually appear in older adults.
Is my risk of breast or bowel cancer raised?
These genes are not known to clearly raise it. Ordinary screening for your age and family history still applies. If other cancers run strongly in your family, your counsellor may look for a different cause.
Can anything lower my risk?
No medicine is proven to prevent these leukaemias. What helps is regular blood counts, knowing the warning signs, avoiding tobacco and planning donor options early. These do not remove the risk, but they help find problems sooner.
How is my own risk worked out?
A haematologist and a genetic counsellor look at your exact variant, your blood counts and your family history. They will tell you what is known for your gene, and be honest where studies are too small to give a firm answer.
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)
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Sources
- GeneReviews (NCBI) — CEBPA-Associated Familial Acute Myeloid Leukemia (AML)
- MedlinePlus Genetics — ETV6 gene
- MedlinePlus Genetics — ANKRD26 gene
- National Cancer Institute — Adult Acute Myeloid Leukemia Treatment (PDQ) – Patient Version
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
The CEBPA, DDX41, ETV6 and ANKRD26 genes: what they doWhat each gene does in the marrow, before the risksWhy adult-onset leukaemia can still be inheritedThe DDX41 story, told properlySurveillance for CEBPA, DDX41, ETV6 and ANKRD26 carriersThe blood checks that follow from these risksHereditary myeloid malignancy predispositionThe wider group these genes belong to
Talk to us
What does your gene result mean for your own risk?
Bring your report and what you know of the family's blood problems. A haematologist and a genetic counsellor can explain what is known for your gene, in Telugu if you prefer. One helpline serves every CION centre.