Inherited genes and cancer types

  • Most cancers are not linked to inherited faulty genes.

  • If you have an inherited faulty gene it increases your risk of developing certain types of cancer. 

  • Some faulty genes increase the risk of more than one cancer type.

  • Faulty BRCA1 and BRCA2 genes increase the risk of developing breast, ovarian, pancreatic and prostate cancer.

Most cancers are not linked to inherited faulty genes Open a glossary item. Only around 5 in every 100 cancers (around 5%) diagnosed are linked to an inherited faulty gene.

This information is about some of the inherited faulty genes that can increase your risk of developing cancer. Faulty genes are also called gene mutations.

It’s important to remember that these conditions are rare. Most cancers develop because of a combination of chance and our environment, not because we have inherited a cancer gene. Talk to your GP if you have a strong family history of cancer. Or if you think you could have inherited any of these faulty genes.

 

BRCA1 and BRCA2 genes 

Everyone has BRCA1 and BRCA2 genes. BRCA stands for BReast CAncer gene. They are important genes that stop the cells in our body from growing and dividing out of control. Doctors call these tumour suppressor genes.

A fault (or mutation) in the BRCA1 or BRCA2 gene means that the cells can grow out of control. This can lead to cancer developing.

Faulty BRCA1 and BRCA2 genes are rare. Only around 1 in every 400 people have a faulty BRCA1 or BRCA2 gene. 

People who inherit faulty versions of these genes have an increased risk of developing different types of cancers. This includes:

  • breast cancer

  • ovarian cancer

  • prostate cancer 

  • pancreatic cancer 

Breast cancer

Researchers think that around 70 in every 100 people (around 70%) with a faulty BRCA1 or BRCA2 gene will develop breast cancer by the age of 80. 

Ovarian cancer

Almost 45 in every 100 people (almost 45%) with a faulty BRCA1 gene will develop ovarian cancer by the age of 80. This is almost 20 in every 100 people (almost 20%) with a faulty BRCA2 gene.

Prostate and pancreatic cancer

Faulty BRCA1 and BRCA2 genes can also increase your risk of developing prostate and pancreatic cancer. But this risk is much lower than the risk of developing breast or ovarian cancer.

 

Lynch syndrome

Lynch syndrome is also called hereditary non polyposis colon cancer (HNPCC). It is caused by faults in the following genes:

  • MLH1

  • MSH2

  • MSH6

  • PMS2

People with Lynch syndrome have an increased risk of developing bowel cancer. Around 70 in every 100 people (70%) with Lynch syndrome will develop bowel cancer. Most people will develop bowel cancer before the age of 50.

Lynch syndrome can also increase your risk of developing other types of cancers. This includes:

  • womb cancer 

  • ovarian cancer 

  • stomach cancer 

  • gallbladder cancer  

  • prostate cancer 

 

Li-Fraumeni syndrome

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

​​​​​​​

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 

​​​​​​​

MYH associated polyposis (MAP)

MAP is caused by faults in the MYH gene (also called MUTYH gene). To have MAP, a person needs to have 2 faulty copies of the MYH (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 have an increased risk of developing:

  • ovarian cancer 

  • bladder cancer 

  • breast cancer 

  • womb cancer 

​​​​​​​

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  ​​​​​​​

​​​​​​​

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. Almost 15 in every 100 women (almost 15%) with a faulty PALB2 gene will develop breast cancer by the age of 50.

 

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

​​​​​​​

Tuberous sclerosis (TB)

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 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). 

Faulty MEN2 genes 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

RB1 gene is also called the retinoblastoma 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​​​​​​​

If you think you might have an inherited cancer gene

Talk to your GP if you think you could have inherited any of these faulty genes. Or if you have a strong family history of cancer. A strong family history of cancer means multiple close family members on the same side of the family who have the same cancer or related cancer types.

Your GP can refer you to a genetic clinic where you will see a genetic counsellor. They can look into our family history and offer you genetic testing.

  • Cancer: Principles & Practice of Oncology (10th edition)
    VT DeVita, TS Lawrence and SA Rosenberg
    Lippincott, Williams and Wilkins, 2015
  • Clinical Commissioning Policy: Genetic Testing for BRCA1 and BRCA2 mutations
    NHS England, 2015
  • Risks of breast, ovarian and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers
    K Kuchenbaecker and others
    Jama, 2017. Vol 317, Issue 23, Pages 2402-2416
  • Molecular testing strategies for Lynch syndrome in people with colorectal cancer
    The National Institute for Health and Care Excellence (NICE), February 2017
  • UKCGG consensus group guidelines for the management of patients with constitutional TP53 pathogenic variants
    H Hanson and others
    BMJ, 2021. Vol 58, Pages 135-139

The information on this page is based on literature searches and specialist checking. We used many references and there are too many to list here. Please contact patientinformation@cancer.org.uk with details of the particular issue you are interested in if you need additional references for this information.

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