BowelGene

BowelGene is a genetic test for individuals with bowel cancer, or a strong family history of bowel cancer. It examines the DNA code of eleven genes known to be associated with an increased risk of developing bowel cancer. It is performed on a blood sample.

Find out your risk of developing bowel cancer with fast, accurate genetic testing.

  • National network of registered genetic counsellors
  • Consultations by telephone or face-to-face
  • Genetic counselling given before and after all genetic tests
  • Genetic testing may influence your surgical treatment, choice of chemotherapy and future cancer prevention
  • Expert counsellors explain the testing process and provide you with all the information to help you make the choice that's right for you

 

1,400

* includes a one-hour phone consultation with a genetic counsellor.

Why should I have genetic testing?

Genetic testing offers you a safe and accurate way of finding out if you are at risk of cancer. We offer a personalised service with pre and post test counselling ensuring you are fully supported every step of the way through the process of genetic testing.

Why should I have genetic testing?
 

Frequently Asked Questions

What is hereditary bowel cancer?

Most bowel cancer occurs by chance, however, less than 30% is familial. In families where bowel cancer is hereditary it may be possible to find the genetic change (variant) which is responsible for the cancers. This allows appropriate cancer screening and risk-reducing options to be offered to the family.

How do I know if I am at risk?

Individuals with hereditary bowel cancer generally show one or more of the following:

  • Bowel cancer diagnosed at a young age (before the age of 50)
  • Bowel cancer that has screened positive for Lynch syndrome (abnormal IHC/ MSI)
  • Several relatives with bowel cancer
  • Relatives with bowel cancer and related cancers (such as womb or ovarian cancer)
  • Multiple bowel polyps* in an individual
  • Multiple generations with cancer

* Cancer usually starts as a benign growth known as a polyp. Not all polyps will become cancerous and they can often be removed during screening.

Genes we test for

The following genes have been shown to be associated with bowel cancer and are tested as part of Bowelgene:

Gene  Condition Main cancer risks About the Condition 
APC Familial Adenomatous Polyposis (FAP)  Bowel: <100%  FAP and AFAP are inherited conditions which cause multiple bowel polyps (over 100 in classical FAP), as well as a significantly increased risk of bowel, small bowel (4-12%) and other cancers. These conditions are rare: approximately 2-3 people in 100 000 will have FAP. However, about 25% of people with FAP will have a new mutation in the APC gene: this means that it occurred for the first time in them and so they usually won’t have a family history of cancer. If someone has FAP, screening can begin in their teens and they usually consider having their bowel and rectum removed. AFAP seems to be milder with people having fewer polyps and usually a later age of onset and would need increased bowel screening.
BMPR1A Juvenile Polyposis Syndrome Bowel:38-68% Juvenile polyposis (JPS) causes many polyps in the bowel and most people will develop some polyps by the age of 20. As well as an increased risk of bowel cancer JPS also increases the risk of stomach cancer (21%) and possibly other cancers. Colonoscopy and endoscopy screening will be recommended.
EPCAM  Lynch Syndrome   Bowel: 33-53% Prostate: 12-52% Ovarian: 6-28% Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 1–3% of all bowel cancer. LS associated with EPCAM causes an increased risk of bowel (33-53%), womb (42-72%), ovarian (6-28%), stomach (2-14%), prostate (12- 52%) and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. 

For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome related cancers.

 MLH1  Lynch Syndrome Bowel: 38-54%
Prostate: 8% - 25%
Ovarian: 5-15% 
Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with MLH1 causes an increased risk of bowel (38-54%), womb (31 - 49%), ovarian (5-15%), stomach (4-11%), prostate (8- 25%) and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome related cancers.
MSH2 Lynch Syndrome 

Bowel: 33-53%
Prostate: 12% - 52%
Ovarian:6-28%

Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with MSH2 causes an increased risk of bowel (33-53%), womb (42 to 72%), ovarian (6-28%), stomach (2-14%), prostate (12- 52%) and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome effective in Lynch syndrome related cancers.
MSH6  Lynch Syndrome

Bowel: 3-27%
Prostate: <44%
Ovarian: <31%

 
Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with MSH2 causes an increased risk of bowel (33-53%), womb (42 to 72%), ovarian (6-28%), stomach (2-14%), prostate (12- 52%) and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome effective in Lynch syndrome related cancers. 

Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with MSH6 causes an increased risk of bowel (3-27%), womb (27-65%), ovarian (up to 31%), stomach ( up to 13%), prostate (up to 44%) cancer and other cancers. It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin, and considering risk-reducing surgery. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome related cancers.

MUTYH MUTYH Associated Polyposis Bowel: 43-100% MUTYH Associated Polyposis (MAP) causes an increased risk of bowel polyps and bowel cancer. It is unusual in that it is inherited in a recessive pattern. This means that someone must inherit a mutation from their mother AND father to be affected. Someone with MAP would be advised to have regular bowel screening and may consider more extensive surgery if they have been diagnosed with bowel cancer.
PMS2  Lynch Syndrome  Bowel: 7-22% 

Prostate: unclear

Lynch syndrome (LS) is the most common hereditary bowel cancer syndrome and is the cause of approximately 2–3% of all bowel cancer. LS associated with PMS2 causes an increased risk of bowel (7-22%) and womb cancer (7-24%). It has been estimated that in Europe approximately one million people have LS; although many do not know they have the condition. Some hospitals now automatically screen bowel tumours for Lynch syndrome and for individuals who screen positive further genetic testing on a blood sample is recommended. If a mutation is identified on the blood test then the person is said to have Lynch syndrome. For individuals with LS, regular bowel screening with colonoscopy is vital and other risk-reducing strategies will be considered. These strategies include detecting and treating an infection called Helicobacter Pylori as well as taking aspirin. A new immunotherapy drug known as PD1 is also particularly effective in treating Lynch syndrome related cancers.
 PTEN Cowden's Syndrome 

Breast: <85%
Bowel: 9-16%

Cowden syndrome causes bowel polyps, benign skin lesions, benign breast disease, large head size (macrocephaly), autism and other features. Individuals with Cowden syndrome have an increased risk of bowel (9%), breast (85%), kidney (34%), thyroid (35%), and womb (28%) cancers as well as a risk of melanoma (5%). Colonoscopy as well as mammograms, renal MRI, skin examination and thyroid ultrasounds will be recommended. Risk reducing surgery may be considered.
 SMAD4 Juvenile Polyposis syndrome Bowel: 38-68% Juvenile polyposis causes many polyps in the bowel and most people will develop some polyps by the age of 20. As well as an increased risk of bowel cancer JPS also increases the risk of stomach cancer (21%) and possibly other cancers. Colonoscopy and endoscopy screening will be recommended. 22% of people with SMAD4 mutations will also have hemorrhagic telangiectasia (malformations of the veins).
 STK11  Peutz Jeghers syndrome  Breast: 45% 

Bowel: 39%

Peutz Jeghers Syndrome (PJS) causes polyps in the large and small bowel, as well as ovarian tumours and abnormal colouring of the skin in childhood, particularly on the lips. PJS causes an increased risk of bowel (39%), breast (45%), pancreatic (11%) and other cancers. Mammograms, colonoscopies and other cancer screening will be recommended.

 

How can genetic testing help?

Genetic testing can help determine the risk of cancer within a family and guide appropriate cancer treatment and screening. Clinical management, in terms, of surgery and chemotherapy may be altered based on the results of genetic testing. Depending on the specific genetic risk different screening tests can be arranged and risk-reducing strategies considered. Colonoscopies in particular have been shown to lower the risk of bowel cancer in families with an inherited risk.

What will the test show?

There are three possible results:

  1. A pathogenic variant is found in one of the genes which is known to increase the risk of bowel cancer. Increased screening and/or risk-reducing techniques will be recommended.
  2. A genetic variant of uncertain significance is found, but whether or not this is the cause of cancer is unknown. Screening will be recommended based on the family history.
  3. No variant is found. It is possible that there may be an undetectable variant or a variant in a different gene. Cancer screening may still be beneficial.
What does it mean if I have a pathogenic variant?

If you have a pathogenic variant this means that you have an increased risk of bowel cancer and possibly other cancers. Your exact risks will depend on which gene variant has been found.  Extra screening and/or risk-reducing strategies will be discussed. It will also be possible to offer predictive testing to other people in your family to see if they also have the mutation.

Screening

When someone has an increased risk of bowel cancer it is usual for them to have colonoscopies. A colonoscopy is when a flexible telescope is inserted into the anus to examine the entire bowel (rectum and colon).  If any polyps are found these can usually be removed to prevent them developing into cancer. The frequency of colonoscopy will depend on which gene mutation is found. 

Screening for other cancers may also be needed and will be discussed if necessary.

Aspirin has been shown to lower the risk of bowel cancer in some circumstances and is currently recommended for LS carriers.

Risk-reducing surgery

In some situations, people may wish to consider risk-reducing surgery.  This is dependent on the condition. 

In Lynch syndrome women have an increased risk of womb and ovarian cancer and may therefore consider hysterectomy and removal of the ovaries.

Colectomy (removal of the colon) may be considered if an individual has FAP but is rare for other conditions.

Bowel awareness

It is important for everyone to be bowel aware and inform their doctor if they notice any signs that they are concerned about.

Signs of bowel cancer are:

  • Bleeding from the anus and/or blood in the poo
  • A change in bowel habit (needing to go to the toilet more or less often) lasting for 3 weeks, and particularly looser stools
  • Unexplained weight loss
  • Extreme tiredness for no obvious reason
  • A pain or lump in the tummy

Most of the time people with these signs will not have cancer but is always important to get them checked out.

Other risk factors

The risk of bowel cancer increases as a person becomes older which is why bowel screening for the general population currently starts at 60.  A personal history of bowel polyps, type 2 diabetes, ulcerative colitis, Crohn’s, and a condition called Acromegaly also increase the risk of bowel cancer and you should consult your doctor regarding screening if you have these.

Vicki Kiesel, Consultant Genetic Counsellor

For those with a family history of cancer, genetic testing is an invaluable tool, helping them to understand their risk of developing cancer. Genetic testing can help to reassure those at low risk while enabling individuals at high risk to make proactive decisions to lower their chance of cancer and increase the likelihood of early detection.

Find out more