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Inherited genes and specific cancers

This page has information about inherited gene faults that can increase your risk of developing cancer. There is information about

 

Research into inherited cancer genes

Researchers have found some genes that increase the risk of particular types of cancer. Tests are available for some of these genes.

Below is information about cancers that we know can be linked to inherited faulty genes and that you can have a test for. We haven’t included genes that are known about but that we can't test for.

 

If you think you have a high risk of developing cancer

If you think there may be a cancer gene fault in your family, the first thing to do is to see your GP. Your GP will talk to you about your family history. If they think you may have a strong family history of cancer they will refer you to a specialist clinic. There, you will see a genetics counsellor who can begin to look into the number of cancer cases in your family.

 

Bowel cancer

Bowel cancer is the 4th most common type of cancer in the UK. Around 6 in 100 men (6%) and 5 in 100 women (5%) will develop bowel cancer during their lifetime. The genes that can increase the risk of developing bowel cancer and can be tested for are

If you are known to have a gene that increases bowel cancer risk, your specialist may suggest that you have regular screening.

We have information about screening for people at high risk of bowel cancer.

Familial adenomatous polyposis (FAP) is caused by a fault in the APC gene. It is a rare disease that causes 1 in 100 bowel cancers (1%). A faulty APC gene can cause hundreds of non cancerous (benign) growths called polyps to develop in the bowel at a young age. Over a long time, these polyps can develop into a cancer. The risk of bowel cancer is greater because of having many polyps.

Rarely, people can develop FAP without any family history. This means that the gene fault has happened for the first time in that person. You can read our information about FAP.

MYH associated polyposis (MAP) is caused by MYH gene faults. It is much rarer than FAP (familial adenomatous polyposis). To have MAP you need two faulty MYH genes, one from each of your parents. 

Lynch syndrome is also called hereditary non polyposis colon cancer (HNPCC). It is caused by faults in the MLH1, MSH2, MSH6 and PMS2 genes. Lynch syndrome is rare and accounts for between 2 and 5 out of every 100 bowel cancers (2 to 5%). Between 70 and 90 out of 100 people with Lynch syndrome (70 to 90%) develop bowel cancer.

If you have Lynch syndrome you are at higher risk of developing other cancers including womb and ovarian cancer in women. Other cancers that Lynch syndrome may cause include stomach, small bowel and gallbladder. These are all rare and most people with Lynch syndrome do not develop these other cancers.

Peutz-Jeghers syndrome (PJS) is linked to a gene fault called STK11. PJS increases the risk of bowel cancer as well as other types of cancer. If you have PJS, the skin around your mouth, nostrils, eyes, and near your back passage may be darker then surrounding skin. PJS is very rare so it is difficult to find any reliable figures.

Juvenile Polyposis Syndrome (JPS) is linked to the BMPR1A and SMAD4 genes. A fault in one of these genes can cause small growths (polyps) in the stomach and small bowel. Juvenile is the name of the type of polyp and is not related to the age you develop the polyps. JPS increases the risk of developing bowel cancer.  

 

Breast cancer

Breast cancer is a common cancer with 1 in 8 women developing it during their lifetime in the UK. But fewer than 3 out of every 100 breast cancers (3%) are caused by an inherited faulty gene. The genes that increase the risk of breast cancer and can be tested for are

Occasionally when you have a test for the BRCA genes the test can show changes in other genes such as the CHEK2 gene. Individual tests for these other genes are not available.

If you are known to have a gene that increases breast cancer risk, your specialist may suggest that you have regular screening.

We have information about screening for women at higher risk.

BRCA1 and BRCA2 genes

Faulty BRCA1 and BRCA2 genes are rare. Between 45 and 90 women out of 100 (45 to 90%) with a BRCA1 or BRCA2 gene fault develop breast cancer during their lifetime. These genes also increase the risk of ovarian cancer and BRCA2 increases the risk of male breast cancer and prostate cancer.

TP53 and PTEN

Faults in TP53 and PTEN are even rarer than BRCA1 and BRCA2 mutations.

The TP53 gene normally controls when a cell divides. It is a type of tumour suppressor gene. It causes breast cancer as part of a rare cancer syndrome called Li Fraumeni syndrome. It causes less than 1 in 100 (1%) of all breast cancers diagnosed.

PTEN is the gene fault in a rare condition called Cowden syndrome.  It increases the risk of breast cancer.

Other genes and breast cancer

A number of other gene faults are linked to a higher risk of breast cancer. Women can have one or more of these gene changes. Finding the changes has helped scientists to understand much more about how breast cancer develops. But the changes still can't tell us who will definitely get breast cancer and who won't. It may take a few years before tests are developed for these other gene changes.

You can read more detailed information about breast cancer genes.

 

Kidney cancer

Kidney cancer is the 8th most common cancer in the UK. 1 in 56 men and 1 in 90 women develop it in the UK during their lifetime.

We know that if you have a family history of kidney cancer your risk is increased. This may be because of shared way of life or more rarely because of inherited faulty genes. Researchers are looking into which genes may increase the risk of developing kidney cancer.

We know that there are a number of inherited conditions that increase your risk of developing it. They are very rare and together only account for about 2 in 100 kidney cancers (2%). They are

Von Hippel Lindau (VHL) syndrome is caused by faults in the VHL gene. It is a rare inherited condition affecting about 3 in 100,000 people. 4 out of 10 people (40%) with VHL syndrome develop a type of kidney cancer called clear cell renal cell cancer (CCRCC). Kidney cysts are common in VHL syndrome. These cysts do not usually affect kidney function, but CCRCC can develop in a cyst. People who carry the gene fault also have an increased risk of developing other rare cancers in the brain, spine, pancreas, eyes and inner ear.

Tuberous sclerosis (TS) is caused by faults in the TSC1 and TSC2 genes. About 1 in 10,000 people have it. About 1 in 3 cases of TS (33%) are inherited. In the other 2 out of 3 cases it occurs as a new event in that person. It can cause skin, brain and heart problems, as well as kidney disease. People with TS have an increased risk of kidney cysts and papillary kidney cancer.

Birt-Hogg-Dube syndrome (BHDS) is caused by faults in the FLCN gene (also known as BHD). People with BHDS develop multiple benign skin tumours (fibrofolliculomas) on the face, neck and upper body. People with BHDS are at increased risk of kidney cancer. It is a very rare condition and the number of people and families with BHDS is not known.   

Isolated hereditary papillary renal cell cancer (HPRCC) is caused by faults in the MET gene. It is a very rare condition and the number of people with HPRCC is unknown. Doctors may suspect it in families when lots of relatives have papillary renal cell carcinoma.

Hereditary leiomyomatosis and renal carcinoma (HLRCC) is caused by faults in the FH gene. People with HLRCC have benign skin tumours (cutaneous leiomyomata), fibroids in the womb (uterine leiomyomata) and may have kidney cancer. Papillary renal cancer is the most common kidney cancer type in HLRCC, but other types, such as tubulo-papillary renal cell cancer and collecting-duct renal cell cancer, can develop. It is a very rare condition and the number of people with HLRCC is not known.

 

Melanoma

Melanoma is a type of skin cancer. In the UK, around 13,300 people are diagnosed with melanoma each year. The main cause of melanoma is too much exposure to ultraviolet light (from sunlight or from artificial sources such as sun beds). About 1 in 10 people (10%) who have melanoma have a strong family history of the disease. People with a family history of melanoma are at increased risk.

Researchers have found that familial atypical multiple mole melanoma syndrome (FAMMM) increases the risk of developing melanoma. People who have FAMMM have more than 50 moles and at least one close relative has been diagnosed with a melanoma. A close relative is a parent, brother, sister, child, aunt, uncle or grandparent. Some families with FAMMM are also at a higher risk of developing pancreatic cancer.

The gene CDKN2A is linked to familial cases of melanoma. But not everyone who has a CDKN2A gene fault develops melanoma. Even if you are found to have a faulty CDKN2A gene you may not go on to develop melanoma. So, although there is a test for the CDKN2A gene it is not clear how useful this is.

Research suggests that the risk of melanoma linked to the CDKN2A fault varies depending on where in the world you live. For example people who live in Australia have a higher risk than those in the UK. Researchers think that factors such as other gene changes or environmental factors may also alter the amount someone's risk is increased by having a faulty CDKN2A gene.

We need more research to find out more about other genes that may cause melanoma.

You can read our information about screening for people at high risk of melanoma.

 

Ovarian cancer

On average, around 2 out of every 100 women in the UK will develop ovarian cancer during their lifetime (2%). The genes that are known to increase risk of ovarian cancer and tests are available for are

If you have one of these faulty genes, what happens next will depend on which one you have. Your specialist may suggest screening. Researchers are looking into the best way to do this. Or, depending on your age and whether you’ve had all the children you want to have, you may choose to have surgery to remove your ovaries and fallopian tubes.

You can read our information about screening for women at high risk of ovarian cancer

BRCA 1

Of all women with a faulty BRCA1 gene, between 40 and 60 out of 100 (40 to 60%) will develop ovarian cancer at some point in their lives. A BRCA 1 gene fault also increases breast cancer risk.

BRCA2

Between 10 and 30 out of 100 women with a faulty BRCA2 gene (10 to 30%) will develop ovarian cancer at some point. A BRCA 2 gene fault also increases breast cancer risk.

Lynch syndrome (HNPCC)

Lynch syndrome is also called HNPCC (hereditary non polyposis colorectal cancer). The genes that cause it are MLH1, MSH2, MSH6 and PMS2. Lynch syndrome is more commonly linked to bowel cancer but can also increase the risk of ovarian cancer. Between 10 and 15 out of 100 women with lynch syndrome (10 to 15%) will develop ovarian cancer. Researchers think that around 2 out of every 100 ovarian cancers diagnosed (2%) are linked to Lynch syndrome.

 

Pancreatic cancer

In the UK, around 1 to 2 in 100 people (1 to 2%) will develop pancreatic cancer at some point in their lifetime. Researchers estimate that a cancer gene fault causes about 10 in 100 pancreatic cancers (10%). Although they can see that it can run in families, scientists haven’t found a single gene fault that causes this, so there isn’t a test at the moment. Researchers are looking into the best way of monitoring people with a strong family history.

If your doctor thinks you have a strong family history of pancreatic cancer, they may suggest that you have regular monitoring. You can find information about screening for pancreatic cancer.

Cancer of the pancreas can also develop as part of one of the family cancer syndromes. Tests are available for

  • The faulty breast cancer gene – BRCA2 gene
  • Peutz-Jeghers syndrome – STK11 gene
  • Lynch syndrome – also called Hereditary non polyposis colorectal cancer (HNPCC)
  • Familial adenomatous polyposis – FAP gene
  • Multiple endocrine neoplasia type 1 – MEN1 gene

These syndromes are covered on this page in the other cancer type sections.

 

Prostate cancer

Prostate cancer is now the most common cancer in men and it affects more than 10 in 100 men in the UK (more than 10%). It is most common over the age of 70. Scientists have found a number of genes that increase the risk of prostate cancer. At the moment there is only a test available for the BRCA2 gene. This gene is more commonly linked to breast and ovarian cancer.

BRCA2 gene and prostate cancer

Between 20 and 25 out of 100 men (20 to 25%) who carry a faulty BRCA2 gene develop prostate cancer. But it is rare under the age of 45.

BRCA1 gene and prostate cancer

Researchers have looked into the BRCA1 gene, which is also linked to breast and ovarian cancer. The situation with prostate cancer is less clear and some studies have found that it doesn’t significantly increase the risk of prostate cancer. We need more research to find out.

Other genes and prostate cancer

Cancer Research UK scientists have found 7 other gene changes, which slightly increase the risk of prostate cancer. Men can have 1 or more of these gene changes. The more changes a man has, the more the risk of prostate cancer goes up. Finding these genes has helped scientists to understand much more about how prostate cancer develops. But the changes still can’t tell us who will definitely get cancer and who won’t.

At the moment we don’t have tests to check men for these gene changes. It will take a few years for tests to be developed. Then research trials will take some time to find the best way of using them.

If you have a faulty gene

If you are tested and have a faulty gene, what happens next depends on which gene is faulty. You can read our information about screening for men at high risk of prostate cancer.

There is a trial for men with an increased risk of developing prostate cancer because they have faulty BRCA1 or BRCA2 genes. The trial is looking at whether a blood test for a protein called prostate specific antigen (PSA), combined with a biopsy, is a good way of picking up prostate cancer early in these men. It is called the IMPACT study. 

You can find out about the IMPACT trial.

 

Eye cancer - retinoblastoma

Retinoblastoma is a rare cancer that develops in young children. Between 40 and 50 children get retinoblastoma every year in the UK. This cancer affects the part of the eye which detects light and colour – the retina. About 4 out of 10 children who develop retinoblastoma (40%) have inherited a faulty gene called RB1. The cause of the other 6 out of 10 (60%) cases is unknown. 

There is a test available for the RB1 gene.

You can find detailed information about retinoblastoma.

 

Thyroid cancer

About 2,100 people are diagnosed with thyroid cancer each year in the UK. There are a number of different types of thyroid cancer. 

Papillary thyroid cancer is the most common type and these are rarely caused by an inherited faulty gene.

Between 5 in 100 and 20 in 100 thyroid cancers (5 to 20%) are medullary thyroid cancers. About 25 out of 100 of these  (25%) are caused by an inherited faulty gene. 

Thyroid cancer and related syndromes

Faulty genes may cause medullary thyroid cancer as part of rare syndromes called multiple endocrine neoplasia or MEN for short. The types of MEN that cause thyroid cancer are MEN2a and MEN2b.

People with MEN2a are also at higher risk of developing a rare type of cancer of the adrenal gland and an overactive parathyroid gland. People with MEN2b are at higher risk of getting adrenal cancer and small growths on their tongue and lips.

If 4 or more members of a family have a medullary thyroid cancer but don’t have any other cancer or a condition that may be linked to MEN, doctors usually diagnose it as familial medullary thyroid cancer (FMTC for short).

You can read more about MEN and thyroid cancer in our thyroid cancer risks and causes section.

We also have information about screening for people who have a high risk of thyroid cancer.

 

Womb cancer

About 2 in 100 women (2%) in the general population will develop womb cancer. Between 40 and 60 out of 100 women (40 to 60%) with a rare condition called Lynch syndrome (also called HNPCC) will get womb cancer. Lynch syndrome also increases the risk of developing a number of other cancers including bowel and ovarian cancer.

Another gene that increases the risk of womb cancer is a faulty PTEN gene. This gene is faulty as part of a rare condition called Cowden syndrome.

You can read our information about screening for women at high risk of womb cancer.

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Updated: 27 March 2015