Inherited genes and cancer types

Li-Fraumeni syndrome (LFS)

Li-Fraumeni syndrome is caused by a fault in the TP53 gene. The TP53 gene controls when a cell divides. It is called a tumour suppressor gene.

People with Li-Fraumeni syndrome have an increased risk of developing a number of cancers. This includes:

• breast cancer 

• bone cancer 

• a type of leukaemia called acute myeloid leukaemia (AML)

• soft tissue sarcoma

• brain tumours

• cancer of the adrenal gland

PTEN Hamartoma tumour syndrome

This syndrome includes Cowden syndrome. It is caused by a fault in the PTEN gene. This syndrome increases your risk of developing benign tumours and different types of cancers. This includes:

• breast cancer 

• thyroid cancer

• womb cancer 

• bowel cancer 

• kidney cancer 

• skin cancer (melanoma)

Familial adenomatous polyposis (FAP)

FAP is caused by a fault in the APC gene. It is a rare disease that is linked to around 1 in every 100 bowel cancers (1%) diagnosed. A faulty APC gene can cause hundreds of non cancerous (benign) growths called polyps to develop in the bowel at a young age. If left untreated, people will almost certainly develop bowel cancer by their 40s.

People with FAP also have an increased risk of developing:

• stomach cancer

• pancreatic cancer 

• liver cancer 

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MUTYH associated polyposis (MAP)

MAP is caused by faults in the MUTYH gene. To have MAP, a person needs to have 2 faulty copies of the MUTYH gene, 1 from each parent. People with MAP develop polyps and are likely to develop bowel cancer under the age of 60.

Researchers also think that people with MAP may have a small increased risk of developing:

• ovarian cancer 

• bladder cancer 

• breast cancer 

• womb cancer 

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Peutz Jeghers syndrome (PJS)

Peutz Jeghers syndrome is caused by a fault in the STK11 gene. Some signs of PJS can appear during childhood. It includes darker skin around the mouth, lips, fingers and toes.

People with PJS have an increased risk of developing:

• breast cancer  

• bowel cancer 

• pancreatic cancer  

• stomach cancer 

• ovarian cancer  ​​​​​​​

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Juvenile Polyposis syndrome (JPS)

JPS is linked to the BMPR1A and SMAD4 genes. A fault in one of these genes can cause polyps in the stomach and small bowel. Juvenile is the name of the type of polyp and is not related to the age at which the polyps develop.

People with JPS have an increased risk of developing stomach and bowel cancer.

PALB2 gene

Faults in the PALB2 gene increase the risk of developing breast cancer. Up to 50 in every 100 women (up to 50%) with a faulty PALB2 gene will develop breast cancer by the age of 70.

Von Hippel Lindau syndrome (VHL)

VHL is a rare inherited condition caused by a change in the von Hippel-Lindau gene. It can affect different parts of the body. People who have this condition have an increased risk of developing:

• pancreatic neuroendocrine tumours (pNETs)

• a type of kidney cancer called renal cell carcinoma

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Tuberous sclerosis (TS)

Tuberous sclerosis is a rare condition caused by faults in the TSC1 and TSC2 genes. It can cause skin, brain, heart and kidney problems. Researchers think that people with TS also have an increased risk of developing renal cell carcinoma. Renal cell carcinoma is a type of kidney cancer.

Birt-Hogg-Dube syndrome (BHDS)

Birt-Hogg-Dube syndrome is caused by faults in the FLCN gene. People with BHDS often develop multiple benign skin tumours (fibrofolliculomas) on the face, neck and upper body. They also have an increased risk of developing kidney cancer.

Researchers think that BHDS may also increase your risk of bowel and breast cancer. But they need more research to find out for sure.

Multiple endocrine neoplasia (MEN) type 1 and 2

MEN is a rare inherited condition in which tumours develop in different parts of the body. There are 2 types, MEN1 and MEN2.

People with MEN1 usually develop tumours in the pancreas, parathyroid gland and pituitary gland. Tumours can also develop in the:

• bowel

• stomach

• adrenal glands

The tumours can be non cancerous (benign) or cancerous (malignant). 

MEN2 is caused by a fault in the RET gene. MEN2 can cause a type of thyroid cancer called medullary thyroid cancer. People with MEN2 also have an increased risk of developing adrenal gland tumours.

RB1 gene

A fault in the RB1 gene can increase the risk of developing a rare type of eye cancer called retinoblastoma.

Retinoblastoma most commonly affects children under the age of 5. It can affect one or both eyes.

Familial atypical multiple mole melanoma syndrome (FAMMM)

FAMMM is a syndrome that increases your risk of developing melanoma skin cancer. People with FAMMM tend to have large numbers of moles or moles that are unusual. They also have at least one close relative with a diagnosis of melanoma. A close relative is a parent, brother or sister, or child.

Scientists think that FAMMM is linked to a fault in the CDKN2A gene. It may also increase your risk of developing pancreatic cancer. But doctors need more research to find out for sure.

Hereditary papillary cancer

Hereditary papillary cancer is linked with a high risk of developing kidney cancer. This includes:

• hereditary papillary renal cell carcinoma (HPRCC)

• hereditary leiomyomatosis and renal cell cancer (HLRCC)

HPRCC is caused by faults in the MET gene. People with HPRCC usually have more than one tumour in both kidneys.

HLRCC is caused by faults in the FH gene and it causes:

• benign skin tumours called cutaneous leiomyomata

• fibroids in the womb or uterine leiomyomata

• kidney cancer​​​​​​​