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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.

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Presentation on theme: "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."— Presentation transcript:

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2 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.

3 Have 3 or more people in your family had bowel cancer? (2 or less)

4 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. NEXT

5 Have any members of your family been diagnosed with womb cancer?

6 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 3) Right sided or mucinous tumours NEXT

7 Did any affected members of your family suffer from multiple bowel polyps or tumours?

8 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). NEXT

9 Do you have any relatives that were diagnosed with Bowel Cancer under 50 years of age?

10 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. NEXT

11 (2+ cases) Was only one affected relative diagnosed with bowel cancer before the age of 50?

12 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. NEXT

13 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

14 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. NEXT

15 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. NEXT

16 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

17 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: About Colon and Rectal Cancer Symptoms and Diagnosis Main Site Click on any of the links above and the webpage will open.


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