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Tumour Testing
For people who have been diagnosed with bowel cancer under age 50y
Introduction
New guidelines recommend that anyone diagnosed with bowel cancer under the age of 50y is
offered tumour tissue testing. This leaflet explains more about this testing.
What is tumour testing?
Tumour testing carried out on a sample of a tumour removed at the time of surgery or biopsy.
This testing can help identify the cancers which are more likely to be caused by an inherited
predisposition. The results can help us recognise families where genetic testing may be useful
and help us advise on the most appropriate screening for you and your relatives.
Where does the tissue come from?
When someone has a tumour removed, or biopsy taken, small samples of the tumour tissue
are normally stored at the hospital.
What test will be done and what is it looking for?
Immunohistochemistry (IHC) testing will be carried out on the tumour sample. IHC testing
looks for clues that suggest whether or not Lynch syndrome is likely to be the cause of your
cancer.
Lynch syndrome is also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) and
is an inherited predisposition (or tendency) to developing certain cancers.
Lynch syndrome mainly causes in an increased risk of developing bowel cancer and womb
lining (endometrial) cancer in women. There are also other associated cancers but the risks of
developing these are lower.
Lynch syndrome is caused by an alteration (technically known as a mutation) in one of a
number of genes. IHC testing looks in the tumour for the proteins from four genes associated
with Lynch syndrome. If one or more of these proteins are missing in the tumour sample, it
may suggest that one of the Lynch syndrome genes is not working properly. This may mean
that Lynch syndrome is the cause, but this is by no means certain.
Consent
To proceed with this testing, we need your permission. If, after discussing this testing with
your specialist clinician and reading this leaflet, you are happy to go ahead with testing,
please complete and sign the attached consent form for your medical records. It is important
to be aware that your test results may also have implications for your relatives.
What about the results?
The tests can take a few months to complete. Once they are available, the specialist who has
arranged your test will contact you.
What happens next?
If the IHC test suggests that Lynch syndrome is the likely cause of your cancer diagnosis, you
will be offered a referral to Clinical Genetics, who will:
 Recommend appropriate screening for you and your close relatives
 Discuss the possibility of arranging further investigations, which may include a
genetic (blood) test to try to pinpoint an alteration in one of the Lynch syndrome
genes
 Suggest that any relatives who are at risk are referred via their GPs to their local
clinical genetics service to discuss appropriate screening and/or genetic testing
If the IHC test is normal, it is less likely that your cancer diagnosis is due to Lynch syndrome.
The cancer may be due to chance and not be inherited or the cancer may be due to other
genetic factors, which we cannot currently test for. This means bowel screening may still be
recommended for you and your close relatives. Since tumour testing will not detect all cases
of Lynch syndrome, it is important that you make your specialist aware if you have a strong
family history of bowel or other cancers.
Where can I get further information?
If you have any further questions about tumour testing, please contact your bowel specialist:
Your specialist clinician is:…………………………..
Telephone number:……………………………