Medical Oncologist
Hereditary Cancer Risk
MEN2, VHL and Other — Hereditary Endocrine Cancer Syndromes
If one of these syndromes runs in your family, finding out whether you carry the gene mutation is the starting point. A clear, age-by-age screening plan — not wait-and-watch — is what changes the outcome.
Medically reviewed by Dr. T. Raghavender Reddy, Medical Oncologist, MBBS · DM (Medical Oncology) · MD (Radiation Oncology) · Last reviewed August 2026
- Caused by one gene mutation — MEN2 is caused by a mutation in the RET gene. VHL is caused by a mutation in the VHL gene. One blood test confirms or rules out the mutation.
- Screening starts in childhood — For the highest-risk RET variants, surveillance or preventive surgery begins before school age — sometimes in infancy.
- Most cancers are preventable — Medullary thyroid cancer, the cancer most strongly linked to MEN2, can be prevented by surgery before it develops.
- First-degree relatives need testing — Each child of an affected parent has a 50% chance of inheriting the mutation. Testing confirms or rules this out.
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If MEN2 runs in your family, the RET gene test confirms whether you carry the mutation. American Thyroid Association data puts the lifetime risk of medullary thyroid cancer above 95% in untreated carriers. A structured screening programme — shaped by your specific RET codon — begins in childhood and prevents most of that risk.
What does an MEN2 diagnosis in the family mean for your own risk?
MEN2 is caused by a mutation in the RET gene that is passed directly from parent to child. Each child of an affected parent has a 50% chance of inheriting it.
If you carry the mutation, the American Thyroid Association reports that the lifetime risk of medullary thyroid cancer exceeds 95% without preventive action. Pheochromocytoma — a tumour of the adrenal gland — develops in around half of all RET mutation carriers over a lifetime, according to ATA data.
Carrying the mutation does not mean cancer is already present. It means the surveillance programme starts now, and starts early enough to prevent the cancer rather than treat it.
What about VHL, MEN1, and other hereditary endocrine syndromes?
VHL syndrome is caused by a mutation in the VHL gene. The VHL Alliance reports that around seven in ten people with VHL develop clear cell renal cell carcinoma in their lifetime. Haemangioblastomas in the brain and spine and adrenal tumours are also common.
MEN1 is caused by a mutation in the MEN1 gene and affects the parathyroid glands, pituitary gland, and pancreatic neuroendocrine tissue. NCCN data indicates that parathyroid overactivity develops in more than nine in ten carriers by their fifth decade.
SDHx gene mutations cause hereditary paraganglioma and phaeochromocytoma syndromes. ESMO guidelines note that malignant spread is more common with SDHB mutations than with other variants in this group.
All of these syndromes are identified through genetic testing. If your family has had one of these cancers — particularly at a young age, or in more than one relative — ask your oncologist whether a genetic referral is appropriate.
Words your doctor may use — and what they mean
- RET gene
- The gene that, when mutated, causes MEN2. The exact location of the mutation within the gene — the codon — determines how aggressively the associated cancer tends to behave and when screening or surgery should begin.
- Medullary thyroid cancer (MTC)
- A cancer arising from the C-cells of the thyroid gland, which produce a hormone called calcitonin. Nearly all untreated MEN2 carriers will develop this. It is distinct from the more common papillary and follicular thyroid cancers and requires a specific surgical approach.
- Pheochromocytoma
- A usually benign tumour of the adrenal gland that produces adrenaline-like hormones. It can cause high blood pressure, pounding headache, sweating, and racing heartbeat. In MEN2, it almost always arises in the adrenal gland itself rather than elsewhere in the body.
- Calcitonin
- A hormone produced by the thyroid's C-cells. A rising blood level is an early indicator of medullary thyroid cancer and is measured regularly in carriers who still have their thyroid.
- Prophylactic thyroidectomy
- Surgical removal of the thyroid before cancer has developed. For the highest-risk RET variants, the American Thyroid Association recommends considering this within the first year of life.
- VHL gene
- The gene that, when mutated, causes Von Hippel-Lindau syndrome. A single altered copy, inherited from one parent, is enough to cause the syndrome.
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What does MEN2 screening look like, age by age?
At any age — genetic testing once a family mutation is known
When a RET mutation is identified in one family member, genetic testing is offered to all first-degree relatives. Testing a newborn is possible from birth. A single blood sample identifies the specific codon variant, which sets the ATA risk category and shapes everything that follows.
Within the first six months — surgery discussion for the highest-risk codon
Children who carry codon 918 (the variant associated with MEN2B) face the most aggressive form of medullary thyroid cancer. The American Thyroid Association recommends discussing prophylactic thyroidectomy before six months of age. This decision is made with a specialist endocrine surgical team.
Before age 5 — surgery for high-risk codons
Children with high-risk codons such as codon 634 are generally recommended for prophylactic thyroidectomy by age five, or earlier if calcitonin begins to rise. The operation is planned at a centre with paediatric endocrine surgical experience.
From childhood onward — annual pheochromocytoma screening
Annual measurement of catecholamines and metanephrines — in blood or a 24-hour urine sample — begins in childhood for highest-risk carriers and in the teenage years for others. The exact start age is determined by your ATA risk category. This continues every year through adult life.
Annually — neck ultrasound and calcitonin for carriers who retain their thyroid
Carriers managing on active surveillance without immediate surgery have a neck ultrasound and blood calcitonin level every year. A calcitonin that rises progressively — even within the normal range — can prompt earlier surgical review.
From young adulthood — parathyroid check for MEN2A
MEN2A carriers are also screened each year for primary hyperparathyroidism using a blood calcium and parathyroid hormone level. This is added to the routine annual blood tests from early adulthood and continued lifelong.
What happens when screening finds something early?
Medullary thyroid cancer found before it has spread to lymph nodes is managed with surgery alone in a large proportion of patients, without systemic treatment.
Pheochromocytoma caught through annual surveillance — before it causes a hypertensive crisis — is removed with a planned, lower-risk operation.
Early detection does not just improve outcomes. It changes the entire character of the treatment that is needed.
Did you know?
Prophylactic thyroidectomy performed before medullary thyroid cancer develops — guided by the ATA risk category for the child's specific RET codon — can prevent a cancer that would otherwise affect nearly all mutation carriers in their lifetime.
When surgery is done at the right point for the risk category, calcitonin is often normal at the time of the operation, and no further treatment is needed afterwards.
Source: American Thyroid Association Guidelines for Medullary Thyroid Carcinoma, 2015
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Common questions
Frequently asked questions
Does everyone with a RET mutation definitely get medullary thyroid cancer?
Without preventive action, the lifetime risk is very high — the American Thyroid Association puts it above 95% for carriers. This is why the programme exists: not to watch for cancer to appear, but to prevent it from appearing at all, either through close surveillance with early surgery or through prophylactic thyroidectomy at an age set by the specific codon variant. Carrying the mutation is serious. It is not the same as a cancer diagnosis.
How is MEN2 different from MEN1?
MEN2 is caused by a mutation in the RET gene and primarily affects the thyroid, adrenal glands, and sometimes the parathyroid glands. MEN1 is caused by a different gene — the MEN1 gene — and primarily affects the parathyroid glands, pituitary gland, and pancreatic hormone-producing tissue. The two syndromes are unrelated and require different surveillance schedules. If your family's genetic report names MEN1, the NCCN guidelines for that syndrome apply rather than the MEN2/ATA framework.
Can a child be tested for the RET mutation?
Yes, and for MEN2 specifically, testing early in childhood is strongly recommended — not something to defer until adulthood. Once the family variant is identified, testing a newborn is straightforward and it changes the surgical plan significantly. Discuss this with an endocrine oncologist or clinical geneticist as soon as MEN2 is confirmed in a family member, before the child reaches the age at which the relevant intervention would typically be recommended.
If my parent has MEN2, what is the chance I carry the mutation?
Fifty percent. MEN2 follows an autosomal dominant inheritance pattern: each child of an affected parent has an equal chance of inheriting the mutation or not. If you do not carry it, your own children are not at increased risk from your parent's syndrome. If you do carry it, each of your children in turn has a 50% chance. Genetic testing is the only way to know — you cannot tell from symptoms alone, because the mutation can be present for years before any cancer develops.
Does a positive RET test mean surgery is certain and immediate?
Not for every codon. The ATA divides RET variants into risk categories — highest, high, and moderate — and the timing of recommended prophylactic thyroidectomy varies accordingly. Some moderate-risk carriers are managed with close annual surveillance, with the surgery decision taken based on calcitonin trends rather than a fixed age. A positive test opens a structured plan, not a single fixed outcome. Your endocrine oncologist will explain which category your variant falls into and what that means in practice for your child or for you.
Is RET genetic testing available in India?
RET gene sequencing and VHL gene testing are available at accredited genetic laboratories in India, including through referral pathways at major cancer centres. What can be limited is access to a specialist — a medical geneticist or endocrine oncologist with experience in these syndromes — to interpret results and guide the surveillance plan. If a hereditary endocrine syndrome is suspected at your centre, ask specifically for a genetics referral rather than waiting for one to be offered. The testing itself is rarely the barrier; specialist interpretation is where delays commonly occur.