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CION Cancer Clinics
Fanconi anaemia genes: which cancers, and how the risk changes with age | CION Cancer Clinics
People with Fanconi anaemia have a much higher risk of leukaemia in childhood and of mouth, throat and genital cancers as young adults. People who carry a fault in only one copy usually do not share that risk, although a few of these genes, such as BRCA2 and PALB2, raise adult breast and ovarian risk. This page sets out each linked cancer, when it tends to appear, and how checks help. 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 the Fanconi anaemia genes raise the risk of?
- Which cancers are most linked to the condition?
- How does the risk change with age?
- The words you will meet, in plain language
- Fanconi anaemia compared with being a carrier
- Four things families tell us, and what is actually true
- What this page cannot tell you
- Common questions about Fanconi anaemia and cancer risk
The short answer
Which cancers do the Fanconi anaemia genes raise the risk of?
People with Fanconi anaemia, a rare inherited condition in which the bone marrow slowly stops making enough blood cells, face a much higher risk of leukaemia and of cancers of the mouth, throat and genital area, often at a young age. People who carry a fault in only one copy of these genes usually do not share that risk. The answer depends on how many faulty copies a person has.
Two faulty copies: the condition itself
Fanconi anaemia needs a faulty copy from each parent. The repair team that fixes one dangerous kind of DNA damage is then missing a member in every cell. Damage builds up fastest in cells that divide often, such as the bone marrow and the lining of the mouth. That is why these are the places where cancer appears.
One faulty copy: a carrier
For most of the Fanconi anaemia genes, a carrier stays healthy and studies so far have not shown a clear rise in cancer risk. A few of these genes are different, because they are also well-known adult cancer genes. BRCA2, PALB2, BRCA1, BRIP1 and RAD51C all belong to the team, and a single faulty copy of those raises the risk of breast, ovarian and some other cancers in adult life.
Check your report for the gene name and for whether one copy or two copies are affected. That decides which half of this page applies to you.In Fanconi anaemia
Which cancers are most linked to the condition?
These are the cancers seen more often in people with two faulty copies. None of them is certain for any one person, and checks are planned to find them early.
Blood and bone marrow
The marrow can develop faulty cells, a stage called myelodysplastic syndrome, which can turn into acute myeloid leukaemia. This is the main cancer risk in childhood and the teenage years.
Watched with
- Regular blood counts
- Bone marrow tests at planned intervals
Mouth, tongue and throat
Cancers of the lining of the mouth and throat are the main risk in young adults. They often appear without any tobacco use, and much earlier than in the general population.
Watched with
- Regular mouth checks by a dentist or specialist
- A biopsy of any patch that does not heal
Food pipe and genital area
The same kind of lining cancer can appear in the food pipe, and in women around the vulva and the anus. Regular gynaecology checks are part of the plan for girls and women from the teenage years.
Rarer patterns
Liver tumours can occur, especially in people treated with hormone-based medicines to support the marrow. Children with the BRCA2 or PALB2 types can develop brain and kidney tumours very early in life.
Which type you have is shown by the gene name on your report.Not sure whether this applies to you?
Ask an oncologistAcross a lifetime
How does the risk change with age?
-
Early childhood
Most children are diagnosed because of low blood counts or birth differences such as thumb or kidney changes. In the rarer BRCA2 and PALB2 types, brain and kidney tumours and leukaemia can appear in these early years.
-
Later childhood
Bone marrow failure usually becomes the main concern. Blood counts fall slowly, and a transplant from a matched donor is often discussed in these years.
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The teenage years
The chance of the marrow developing faulty cells or leukaemia rises. Regular marrow checks aim to find this early, ideally before it becomes leukaemia.
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Young adulthood
Cancers of the mouth, throat, food pipe and genital area become the leading risk. This is true whether or not the person has had a transplant.
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After a transplant
A transplant replaces the marrow, so the leukaemia risk falls sharply. The rest of the body still carries the repair fault, so the risk of lining cancers stays, and checks must continue for life.
On your report
The words you will meet, in plain language
- Biallelic
- Both copies of the gene are faulty, one from each parent. This is what causes Fanconi anaemia.
- Carrier
- One faulty copy and one working copy. For most of these genes, a carrier is healthy.
- Myelodysplastic syndrome
- The bone marrow makes faulty, immature cells. It can turn into leukaemia, so it is watched closely.
- Acute myeloid leukaemia
- A fast-growing cancer of the blood-forming cells in the marrow.
- Squamous cell carcinoma
- A cancer of the thin lining cells that cover the mouth, throat, food pipe and genital area.
- Chromosome breakage test
- A blood test that shows whether cells break easily under stress. It is how Fanconi anaemia is usually confirmed.
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Side by side
Fanconi anaemia compared with being a carrier
Fanconi anaemia (two faulty copies)
Carrier (one faulty copy)
A much higher risk of leukaemia from childhood
No raised leukaemia risk for most genes
Mouth and throat cancer risk from young adulthood
No clear rise for most genes
Regular blood, marrow, mouth and gynaecology checks
Usually no special checks, unless the gene is BRCA2, PALB2, BRCA1, BRIP1 or RAD51C
Cancer treatment doses must be reduced
Standard treatment is usually safe
Commonly believed
Four things families tell us, and what is actually true
"After the transplant, the cancer danger is over."
A transplant replaces the marrow only. The lining of the mouth, throat and genital area still carries the repair fault. Mouth and gynaecology checks must continue for life.
"He never chews tobacco, so mouth cancer cannot happen."
In Fanconi anaemia, mouth cancer often appears without any tobacco use. Avoiding tobacco, gutka, areca nut and alcohol still lowers the risk, and it matters more here than for anyone else.
"As a carrier, I will get the same cancers as my child."
For most of these genes, carriers stay healthy. The exceptions are carriers of BRCA2, PALB2, BRCA1, BRIP1 or RAD51C, whose risks are the adult breast and ovarian risks of those genes.
"If cancer comes, normal treatment will work the same way."
People with Fanconi anaemia are very sensitive to chemotherapy and radiation. Doses must be reduced and planned by a team who knows the condition. Tell every doctor about the diagnosis.
Being straight with you
What this page cannot tell you
It cannot put a number on your own risk or your child's. Fanconi anaemia is rare, the risk differs between genes and between families, and published figures come from small groups. What your specific variant means is a question for the counsellor who ordered the test.
It cannot tell you when to consider a transplant
That decision depends on blood counts, marrow findings and whether a matched donor is available, often a brother or sister. It belongs with a haematologist who treats this condition, not with a web page.
Who this does not apply to
Most people with a low blood count, or a mouth ulcer, do not have Fanconi anaemia and do not need this test. In families where parents are related by marriage, the chance of two carriers is higher. That is a reason to ask, not a reason to worry.
Tumour testing to guide cancer treatment is a separate subject, covered under targeted therapy.Questions we are asked
Common questions about Fanconi anaemia and cancer risk
What is the biggest cancer risk in Fanconi anaemia?
In childhood and the teenage years, it is leukaemia arising from the bone marrow. In young adults, it is cancer of the mouth and throat. Both risks are much higher than in the general population, which is why checks start early and continue for life.
Does a carrier of a FANCA fault have a higher cancer risk?
For FANCA and most of the other genes, studies so far have not shown a clear rise in cancer risk for carriers. The main reason a carrier result matters is family planning, if a partner carries a fault too. Your counsellor can confirm this for your gene.
Can mouth cancer be prevented?
The risk cannot be removed, but it can be lowered. Avoid tobacco in every form, areca nut and alcohol. Keep teeth and gums healthy. Ask about the HPV vaccine. Regular mouth checks find early changes when they are still easy to treat.
Does a bone marrow transplant change the cancer risk?
It sharply lowers the leukaemia risk, because the new marrow does not carry the fault. It does not lower the risk of mouth, throat or genital cancers, and graft problems after transplant can raise it. Checks for those cancers must continue.
Why must cancer treatment be different?
The same repair fault that raises cancer risk also means cells cannot repair the damage chemotherapy and radiation cause. Standard doses can be dangerous. Treatment is planned with reduced doses by a team who knows the condition.
Why are women checked by a gynaecologist?
Lining cancers of the vulva and the area around the anus are more common in women with Fanconi anaemia and can appear young. A gynaecologist checks for early changes, and any lasting itch, sore or lump should be reported promptly.
Should brothers and sisters be tested?
Yes. Each brother or sister of a child with the condition has a one in four chance of having it too. Testing also shows who could be a safe donor if a transplant is needed. A haematologist can arrange this.
Who looks after Fanconi anaemia at CION?
A haematologist leads care, working with a genetic counsellor, a head and neck specialist and a gynaecologist. Call the CION helpline with the report, and you will be booked with the right team. Counselling in Telugu can be arranged.
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) — Fanconi Anemia
- MedlinePlus Genetics — Fanconi anemia
- National Cancer Institute — Head and Neck Cancers
- MedlinePlus Genetics — BRCA2 gene
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
Fanconi anaemia and head and neck cancer in young adultsThe mouth and throat risk, in detailWhy chemotherapy and radiation doses must be reducedWhy standard treatment can be dangerous in this conditionSurveillance for Fanconi anaemia gene carriersThe regular checks that find cancers earlyThe Fanconi anaemia genes: what they doThe repair fault behind the risk
Talk to us
Has a FANC gene result left you unsure what the risk is?
Tell us what the report says and whether one copy or two are affected. We will help you reach a haematologist or genetic counsellor who can explain it properly. One helpline serves every CION centre.