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Bowel Cancer Genetic Testing

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Download the BowelGene brochure

The following genes are tested:

Gene Condition Estimated bowel cancer risk by age 70
EPCAM Lynch syndrome 25-70%
MLH1 Lynch syndrome
MSH2 Lynch syndrome
MSH6 Lynch syndrome
PMS2 Lynch syndrome
MUTYH MUTYH associated Polyposis 43-100%
APC FAP AFAP >90% 70%
BMPR1A Juvenile Polyposis Syndrome 10-38%
SMAD4 Juvenile Polyposis Syndrome
PTEN Cowden syndrome 9%
STK11 Peutz Jeghers Syndrome 39%

Bowel cancer affects approximately 41,000 people in the UK each year and is the UK’s second biggest killer. More than 80% of bowel cancers are diagnosed in people over the age of 60. So the risk increases as you get older.

Only 2-5% of bowel cancer is hereditary but if there is a family history of bowel cancer, this can be a big worry. Families with hereditary bowel cancer generally show one or more of the following clues:

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

  • Bowel cancer diagnosed at a young age (before the age of 50)
  • 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.

Bowel Gene – bowel cancer genetic testing

BowelGene is bowel cancer genetic testing which examines the DNA code for 11 genes known to cause an increased risk of bowel cancer. It is performed on a saliva sample and if possible, it is always more informative to test a relative who has had bowel cancer.

A genetic counsellor can give you more information about these genes.

What can I do if I am shown to be at increased risk?

It is usual for someone with an increased risk of bowel cancer to have a colonoscopy. A colonoscopy involves the insertion of a flexible telescope 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 (lynch syndrome) carriers.

Genetic bowel cancer counselling

Only 2-5% of bowel cancer is hereditary but if there is a family history of bowel cancer, this can be a big worry. Deciding to have a genetic test is a big decision for any man or woman and one that needs careful consideration.

That’s why at BowelHealth UK we offer genetic counsellors to assist you prior to any bowel cancer testing. Our counsellors will provide you with all the information you need to make a decision and will help explain the process of genetic testing to you. Our counsellors will also be available once you have had your testing to discuss your results and options.

Why would I want to know that I’m at risk of cancer?

Genetic testing can help determine the risk of cancer within a family and guide appropriate cancer screening. Depending on the specific genetic risk, different screening tests can be arranged and risk-reducing strategies considered. Colonoscopies have particularly been shown to lower the risk of bowel cancer in families with an inherited risk.

Bowel cancer 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 known as acromegaly also increase the risk of bowel cancer and you should consult your doctor regarding screening if you have these.

Smoking and drinking alcohol have both been shown to increase the risk of bowel cancer. Your GP can help with smoking cessation and/or discuss your alcohol intake if you are concerned. Red meat, processed meat, abdominal and body fatness also increase the risk of colorectal cancer.

A diet high in dietary fibre, garlic, milk, and calcium lower the risk of colorectal cancer, as does physical activity.

Price

At BowelHealth UK we offer genetic counsellors to assist you prior to any bowel cancer genetic testing. Our counsellors will provide you with all the information you need to make a decision and will help explain the process of genetic testing to you. Our counsellors will also be available once you have had your testing to discuss your results and options.

The cost for BowelGene is £1,500 which includes before and after test counselling.

For more information please contact us

BowelCheck
If you want fast, accurate screening for bowel cancer
BowelGene
If you have a family history of bowel cancer
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