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
Researchers are finding new genes all the time that are linked to particular types of cancer. But this is a complicated area of research and it will be some time before we fully understand how inherited gene faults cause particular cancers. There are only a few genes that doctors can test for at the moment.
There is more information about how genes can cause cancer in this section.
Below there 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 cannot test for. You can find out more in the risks and causes section of the cancer type you are interested in.
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 in to the number of cancer cases in your family.
Bowel cancer is the 3rd most common type of cancer in the UK. 1 in 15 men and 1 in 19 women will develop bowel cancer during their lifetime. The genes that increase your risk of developing bowel cancer and can be tested for are
- FAP or familial adenomatous polyposis (the APC gene)
- MAP or MYH associated polyposis (the MYH gene)
- Lynch syndrome or HNPCC (the MLH1, MSH2, MSH6 and PMS2 genes)
- Peutz Jeghers syndrome (the STK11 gene)
- Juvenile Polyposis syndrom (the BMPR1A and SMAD4 genes)
If you are known to have a gene that increases bowel cancer risk, your specialist may suggest that you have regular screening.
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 growths called polyps to develop in the bowel at a young age. Over a long time, these polyps can develop into a cancer. Your risk of cancer is greater because you have many more of these polyps than someone without this gene fault.
MYH associated polyposis (MAP) is caused by an MYH gene fault. It is much rarer than FAP (familial adenomatous polyposis). To have MAP you need two faulty MYH genes, one from each of your parents. To develop FAP, you only need one faulty copy of the gene.
Lynch syndrome is also called Hereditary non polyposis colon cancer (HNPCC). It is caused by faults in MLH1, MSH2 MSH6 and PMS2genes. These repair DNA. Lynch syndrome is rare and accounts for between 2 and 5 out of every 100 bowel cancers (2 to 5%). Between 7 and 9 out of 10 people with Lynch syndrome (between 70 and 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 cancers.
Peutz-Jeghers syndrome (PHS) is linked to a gene fault called STK11. Peutz Jeghers increases the risk of bowel cancer as well as other types of cancer. If you have this your skin around the mouth, nostrils eyes and near your back passage may be darker. Peutz Jeghers 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 not to do with the age you develop the polyps. JPS increases the risk of developing bowel cancer.
Breast cancer is a common cancer with 1 in 8 women developing it during their lifetime in the UK. 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 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.
Between 45 and 90 women out of 100 (45 to 90%) with a faulty BRCA1 or BRCA2 gene develop breast cancer during their lifetime.
Faulty BRCA1 and 2 genes are rare. But they can also increase the risk of other cancers such as ovarian cancer, pancreatic and prostate cancer.
Faults in TP53 and PTEN mutations are 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 fewer than 1 in 100 (1%) of all breast cancers diagnosed.
PTEN is the gene fault in a rare condition called Cowden syndrome. It increases your risk of breast cancer.
Kidney cancer is the 8th most common cancer in the UK. 1 in 61 men and 1 in 100 women develop it during their lifetime in the UK.
We know that if you have a family history of kidney cancer your risk is increased. And if your brother and sister has had kidney cancer you have a 4 times greater risk of kidney cancer than if they didn’t have kidney cancer. 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% of kidney cancers. They are
- Von Hippel Landau (VHL) syndrome
- Tuberous sclerosis (TS)
- Birt-Hogg-Dube syndrome
- Hereditary papillary renal cell cancer
- Hereditary leiomyomatosis and renal carcinoma
Von Hippel Landau (VHL) syndrome is caused by faults in the VHL gene. It is a rare inherited condition affecting about 1 in 36,000 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 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). Individuals 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 in HLRCC, but other types, for example 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 is a type of skin cancer. In the UK, almost 12,000 people are diagnosed with melanoma each year. The main cause of melanoma is too much exposure to sunlight. About 1 in 10 people (10%) who have melanoma have a strong family history of the disease. People with a family history are at increased risk.
Researchers have found that the family cancer syndrome - familial atypical multiple mole melanoma syndrome (FAMMM) increases your risk of developing melanoma. The gene CDKN2A is known to cause FAMMM. Recent research suggests that just over 1 in 4 people (25%) with a faulty CDKN2A gene will develop melanoma by the age of 80 years. Research also suggests that your risk varies depending on where in the world you live. For example people with a faulty CDKN2A gene who live in Australia have a higher risk than those in the UK with a faulty gene. Researchers think that other factors including other gene changes or environmental factors may alter the amount your risk is increased by having a faulty CDKN2A.
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. Not everyone who has a CDKN2A gene fault develops melanoma and so even if you are found to have a faulty gene you may not go on to develop melanoma. So although there is a genetic test for a faulty CDKN2A it is unclear as to how useful this is.
On average, 1 out of every 54 women in the UK will develop ovarian cancer during their lifetime. The genes that are known to increase risk of ovarian cancer, and that you can have a test 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 still looking into the best way to do this. There is information about screening for high risk groups in the ovarian cancer section. Or, depending on your age and whether you’ve had all the children you want to have, they may advise surgery to remove your womb and ovaries.
Of all women with a faulty BRCA1 gene, between 4 and 6 out of 10 (40 to 60%) will develop ovarian cancer at some point in their lives. A BRCA 1 gene fault also increases breast cancer risk.
Between 1 and 3 out of 10 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 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 - 15%) will develop ovarian cancer. Researchers think that around 2 out of every 100 ovarian cancers diagnosed (2%) are linked to Lynch syndrome.
In the UK, around 5 out of every 200 cancers diagnosed (2.6%) are pancreatic cancer. Around 1 in 77 men and 1 in 79 women will develop it at sometime in their lifetime. Researchers estimate that a cancer gene fault causes about 1 in 10 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 regular monitoring for the disease. You can find more information about screening for pancreatic cancer in the pancreas cancer section.
Cancer of the pancreas can also develop as part of one of the family cancer syndromes. The ones that tests are available for include
- 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 is now the most common cancer in men. The lifetime risk for a man in the UK is 1 in 8. Remember that it is most common over the age of 70 so your risk at 50 is much lower than this. Scientists have found a number of genes that increase 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
If you have a faulty BRCA2 gene, your risk of getting prostate cancer before the age of 65 is 7 times higher than a man without a faulty gene. After the age of 65 you have a 4½ times greater risk of prostate cancer than a man without a gene fault.
BRCA1 gene and prostate cancer
There has been research 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 published a research study in February 2008 that looked at gene changes in men with prostate cancer. Researchers realised that particular combinations of genes may increase a man’s risk of developing prostate cancer. So, over many years, teams of scientists in the UK and Australia studied the differences in the genetic make up of more than 10,000 men. They compared the genetic make up of men who had prostate cancer and men who did not have prostate cancer.
The scientists found 7 gene changes, which each slightly increase the risk of prostate cancer. The changes are on the human chromosomes numbered 3, 6, 7, 10, 11, 19 and X.
Men can have one or more of these gene changes. The more changes you have, 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
There is a trial for men with a high risk of developing prostate cancer because they have faulty BRCA1 or BRCA2 genes. The trial is looking at whether the PSA test 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 more about this trial on our clinical trials database.
Retinoblastoma is a rare cancer that develops in young children. Between 40 and 50 children get retinoblastoma every year in the UK. It 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%) is unknown. Those within this group includes children who are the first to develop the gene fault within the family. There is a test available for this gene.
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. Between 1 in 10 and 1 in 20 thyroid cancers (10 to 20%) are medullary thyroid cancers. About 1 out of 4 (25%) of these are caused by an inherited faulty gene. More rarely papillary thyroid cancers are caused by an inherited faulty gene.
Faulty genes may cause medullary thyroid cancer as part of a rare syndrome 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 one of the other conditions which may be linked to MEN, doctors usually diagnose it as familial medullary thyroid cancer (FMTC for short).
There is also information about screening for people who have a high risk of thyroid cancer.
About 1 in 46 women in the general population will develop womb cancer. Between 4 and 6 out of 10 women (40 – 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.
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