Transcript Do you have a significant Family history of bowel cancer (CRC) in

This short questionnaire will help to determine whether there may be a
gene in your family connected to an increased risk of the development of
bowel cancer.
Information about bowel cancer
 Bowel cancer affects 1 in 14 men and 1 in 19 women
 The majority of bowel cancer does not run in families and is not due to
an inherited susceptibility.
 Approximately 5% of bowel tumours are caused by the inheritance of a
spelling mistake in a single high risk of bowel cancer gene.
It is possible to have a family history of bowel cancer which is due to a
combination of inherited and environmental factors without a single high
risk gene being identified or present. This is because a lot of inherited
bowel cancer is probably linked to subtle variations in a large number of
unidentified genes each associated with a small increase in risk.
 A family history of bowel cancer, particularly in association with bowel
cancer and polyps diagnosed at a young age, or in association with the
following tumours may suggest an inherited link:
Stomach, gallbladder, prostate, womb (endometrial), fallopian tube,
ovarian, kidney/bladder (urotherlial tract) or skin cancer.
Have 3 or more people in your
family had bowel cancer?
(2 or less)
We would recommend you discuss this with your GP to
arrange referral to your regional family history and/or
clinical genetics department.
This is because there may be a high risk of cancer caused by
a spelling mistake in a gene associated with bowel cancer.
This risk is usually only higher if bowel cancer has been
diagnosed in a close family member (such as a parent,
sister or brother) under the age of 50, or when several
close members on the same side of a family have all had
bowel cancer.
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Have any members of your family
been diagnosed with womb
cancer?
We advise you to seek referral to your regional family history and/or
clinical genetics department through your GP.
HNPCC is responsible for about 2-3% of bowel cancer. It is caused by the
inheritance of an alteration in a gene important in repairing defects in
the genetic code before cells divide (proof-reading/mismatch repair
genes). This gene change can be inherited from men or women.
A diagnosis is usually made by detecting abnormalities in the repair of
genetic material in bowel tumours and then by identifying the familial
link through a blood test, if possible, on a living affectd member of the
family.
The condition is more common in patients with bowel cancer
diagnosed under the age of fifty or if there is:
1) Less than ten bowel polyps in family members
2) Stomach, gallbladder, prostate, womb (endometrial), fallopian
tube, ovarian, kidney/bladder (urotherlial tract) or skin cancer in the
family
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3) Right sided or mucinous tumours
Did any affected members of your
family suffer from multiple bowel
polyps or tumours?
We advise you to seek genetic councilling through your GP.
If there is a strong family history of bowel cancer in association
with a large number of polyps it may be helpful for your doctor
to consider testing for HNPCC or familial polyposis.
Familial polyposis can be caused by either the inheritance of a
single alteration in the APC gene associated with familial
adenomatous polyposis (this can be passed on from parent to
child in a dominant fashion) or by the inheritance of an
alteration in the MYH gene from both parents (this tends to
affect brothers and sisters rather than parent and child and is
generally inherited in a recessive fashion).
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Do you have any relatives that
were diagnosed with Bowel Cancer
under 50 years of age?
We think that it would be beneficial to seek genetic counselling
through your GP.
This is because a person with a close family member (such as a
parent, sister or brother) under the age of 50, or when several
close members on the same side of a family have all had bowel
cancer can be at greater risk. Due to two rare conditions that
can run in families: familial adenomatous polyposis (FAP) and
hereditary non-polyposis colon cancer (HNPCC). People with
either condition have a very high risk of developing colon
cancer.
However, only about 5% of (5 in every 100) colon and rectal
cancers are caused by an inherited faulty gene like this.
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Was only one affected relative
diagnosed with bowel cancer
before the age of 50?
(2+ cases)
From this assessment you are near population risk of developing
inherited bowel cancer.
If you have one relative diagnosed with bowel cancer over
the age of fifty and there is no one in the family who had:
1) Stomach, gallbladder, prostate, womb (endometrial),
fallopian tube, ovarian, kidney/bladder (urotherlial tract)
or skin cancer
Or relatives with
2) Bowel polyps
3) Right sided or mucinous tumour between the age of 50
and 60
Then no additional screening or genetic tests are
recommended.
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Is the average age of the relatives
that have been diagnosed with
bowel cancer less than 60?
Example: ages are 54 and 62.
(54+62)÷2 = 58 = less than 60
We recommend consulting your GP about receiving genetic
counselling.
When there are a number of people affected with bowel tumours or
polyps in the family it is possible that genetic testing could clarify if
the relatives are at an increased risk. Not all bowel polyps (or benign
growths of the bowel wall into the lumen of the bowel) are associated
with an increased risk of cancer for the patient and their relatives and
this should be discussed with the doctors involved in caring for the
patient. In general hamartomas, tubular adeomas and tubulovillous
adenomas are the most likely to be relevant to the family history.
If the cause of the family history is not identified, this does not
necessarily mean that screening for at risk relatives would not be
indicated as the reason for the tumours in the family may not yet have
been discovered.
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You are at a low risk of inherited bowel cancer.
If you have one relative diagnosed with bowel cancer over the age
of fifty and there is no one in the family who had:
1) Stomach, gallbladder, prostate, womb (endometrial), fallopian
tube, ovarian, kidney/bladder (urotherlial tract) or skin cancer
Or relatives with
2) Bowel polyps
3) Right sided or mucinous tumour between the age of 50 and
60
Then no additional screening or genetic tests are recommended.
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Screening:
If you are aged 60+ you are likely to receive a stool sampling
kit as a screening test for bowel cancer. This is a good test for
the general population and is supplemented by bowel
screening (with a colonoscopy) if there is a strong family
history.
Symptoms which may be suggestive of bowel cancer which
may merit further discussions with your general practitioner:
1. Alteration in your usual bowel habit for more than two
weeks
2. Blood loss from the back package
3. Weight loss or loss of appetite for no reason
4. Abdominal pain or tiredness all the time
If you are concerned about anything you have read, please
go to the Macmillan Cancer Support Website for more
information and videos about bowel cancer.
Here are some useful links:
Main Site
About Colon and Rectal Cancer
Symptoms and Diagnosis
Click on any of the links above and the webpage will open.