Inherited renal cancer syndromes

What are inherited renal cancer syndromes?

Inherited renal cancer syndromes, also known as renal cell carcinoma (RCC) predisposition syndromes, are a group of inherited conditions that cause an increased risk of developing kidney cancer.

They include the following conditions:

BAP1-related tumour predisposition syndrome
Birt Hogg Dube (BHD) syndrome
Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome
Hereditary Type 1 papillary renal cell carcinoma syndrome (MET oncogene)
PTEN hamartoma tumour syndrome (PHTS; also known as Cowden syndrome)
Succinate dehydrogenase-related tumour predisposition syndrome
Von Hippel Lindau (VHL) disease

For information about BHD syndrome, HLRCC and VHL disease visit VHL UK/Ireland

For information about PHTS visit PTEN UK & Ireland Patient Group

Having one of these conditions does not mean that you will necessarily develop kidney cancer. However you are at greater risk of doing so. Early diagnosis and monitoring is therefore important to ensure that any treatment that is needed can start as soon as possible.

It is hard to give accurate figures for how common these conditions are. In some cases, many more people carry the genetic changes associated with these conditions than ever develop kidney cancer, so they may therefore never be diagnosed as having the condition. In other cases hereditary kidney tumours can occur but no genetic alteration is detected.

BHD syndrome and HLRCC are thought to affect around 1 in 200,000 people in the UK.

VHL disease affects around one in 70,000 people in the UK.

PHTS is thought to affect between 200 – 300 people overall in the UK.

It is currently unknown how many people are affected by BAP1-related tumour predisposition or Hereditary Type 1 papillary renal cell carcinoma syndromes.

What causes inherited renal cancer syndromes?

Inherited renal cancer syndromes are caused by genetic mutations (abnormalities). The precise genes involved vary by condition and some are still being investigated.

BAP1-related tumour predisposition syndrome is caused by a mutation in the BAP1 gene.

BHD syndrome is caused by a mutation in the FLCN gene.

Hereditary Type 1 papillary renal cell carcinoma syndrome is caused by a mutation in the MET gene.

HLRCC is caused by a mutation in the FH gene.

PHTS is caused by a mutation in the PTEN gene.

VHL disease is caused by a mutation in the VHL gene.

What are the signs and symptoms of inherited renal cancer syndromes?

The precise signs and symptoms of inherited renal cancer syndromes vary depending on the condition.

Some people do not have any symptoms and are never affected by the condition.

If symptoms do occur, they can include:

BHD syndrome causes benign (non-cancerous) skin lumps called fibrofolliculomas, lung cysts (small, fluid filled sacs), and an increased risk of collapsed lung (spontaneous pneumothorax).

Hereditary Type 1 papillary renal cell carcinoma syndrome causes tumours in the cells that line the small tubes in the kidney.

HLRCC syndrome causes benign (non-cancerous) skin lumps called cutaneous leiomyomas. Women often develop large fibroids in the uterus called uterine leiomyomas.

Most people with PHTS have an abnormally large head (macrocephaly). They may also have developmental delay, unusual skin pigmentation and wart-like lesions or fatty lumps called lipomas in their skin.

VHL disease can cause non-cancerous cysts which do not usually cause any problems. People with VHL have an increased risk of developing tumours. Most of the time these are noncancerous and may not cause any problems but need careful monitoring.

All of the conditions cause a higher risk of developing kidney cysts and kidney cancer.

How are inherited renal cancer syndromes diagnosed?

Precise diagnosis is by genetic testing. Accurate diagnosis allows for lifelong screening to ensure the early detection of tumours. This reduces the risk of serious illness and prolongs life expectancy.

Blood and urine tests are used to check kidney function.

Additional tests may be recommended depending on the precise condition - for example eye tests for VHL disease.

Tumours may be identified by MRI or ultrasound scan, depending on the specific condition.

The age at which kidney cancer occurs varies according to the precise syndrome but for most conditions screening and precise monitoring will start in adulthood.

Do inherited renal cancer syndromes affect other parts of the body?

As well as the kidneys, VHL disease can cause tumours to develop in other parts of the body, including the eyes, brain, spinal cord, pancreas and adrenal glands.

People with PHTS are more likely to develop cancer of the breast, thyroid, bowel, womb lining (endometrial) or skin at a younger age than the general population.

Do inherited renal cancer syndromes run in families?

Most cases of inherited renal cancer syndromes are passed down from one of your parents due to a genetic abnormality or mutation.

In some cases, however, a genetic change occurs spontaneously. This can cause a renal cancer syndrome to develop in someone whose parents do not have a mutated gene. This new mutation can then be passed onto the next generation.

How are inherited renal cancer syndromes treated?

Treatment varies depending on the precise condition and how serious it is.

Large fibroids for women with HLRCC may need a hysterectomy – the removal of the womb.

Cysts are very common and often do not need treatment but will be monitored to check that they do not cause any damage or pain.

If kidney cancer does develop, the tumour is usually surgically removed in a way that aims to preserve as much kidney function as possible. Sometimes repeated surgeries may be required to treat multiple tumours in both kidneys. Kidney failure is rare but if it does occur, dialysis or transplant will be needed.

Where can I get more information or support about inherited renal cancer syndromes?

For information about BHD syndrome, HLRCC and VHL disease, including their diagnosis, symptoms and treatment, visit VHL UK/Ireland

For information about PHTS, including its diagnosis, symptoms and treatment visit PTEN UK & Ireland Patient Group

Publication date: 09/2025

Review date: 09/2028