Do you have 3 or more affected relatives?

1. Do you have a significant Family history of bowel cancer (CRC) in First Degree Relatives requiring specialist input on screening or genetic testing?

2. 1 Do you have 3 or more affected relatives? Yes No (2 or less)

3. SEEK REFERRAL Risk Assessment: High/High-Moderate Advice: Seek genetic counselling Possible Genetic Testing: Tumour block analysis (TBA) for HNPCC If tests normal; may require 2 yearly screening from age 25 if there has been a relative diagnosed under 50. What is this? HNPCC: A condition in which the tendency to develop colorectal cancer is inherited. families with HNPCC, cancer usually occurs on the right side of the colon. It often occurs at a younger age than colon cancer that is not inherited. Other cancers can occur in these families including cancer of the uterus, ovaries, stomach, urinary tract, small bowel, and bile ducts. MORE INFO NEXT

4. 2 Do you have any family history of womb (endometrial) cancer? Yes No

5. SEEK REFERRAL Risk Assessment: High Advice: Seek genetic counselling Possible Genetic Testing: Tumour block analysis(TBA) If HNPCC is confirmed; recommended bowel screening every 18 months from age 25 and gynaecological review at 35. What is this? HNPCC: A condition in which the tendency to develop colorectal cancer is inherited. families with HNPCC, cancer usually occurs on the right side of the colon. It often occurs at a younger age than colon cancer that is not inherited. Other cancers can occur in these families including cancer of the uterus, ovaries, stomach, urinary tract, small bowel, and bile ducts. MORE INFO NEXT

6. 3 Did any affected patients in your family have multiple bowel polyps or tumours? Yes No

7. SEEK REFERRAL Risk Assessment: High Advice: Seek genetic counselling Possible Genetic Testing: Tumour block analysis TBA / APC / MYH / FAP (familial polyposis) If tests FAP; may require annual screening from age 12. MYH polyposis has autosomal recessive inheritance What is this? APC = Adenomatouspolyposis coli is a protein that in humans is encoded by the APC gene. Mutations in the APC gene may result in colorectal cancer as APC is classified as a tumour suppressor gene; prevents the uncontrolled growth of cells that may result in cancerous tumours. MORE INFO MYH =MYH-associated polyposis (MAP) is a hereditary condition. MAP sufferers’ develop multiple adenomatous colon polyps (normal cells that line the inside of the colon can begin to make mucous and form a mass) during their lifetime and will have an increased risk of colorectal cancer. NEXT

8. 4 Were any relatives diagnosed with Bowel Cancer under 50 years of age? Yes No

9. SEEK REFERRAL Risk Assessment: High - moderate Advice: Seek genetic counselling Possible Genetic Testing: Tumour block analysis (TBA) Risk of CRC (Bowel Cancer) in the UK: Men = 1 in 14 Women = 1 in 19 NEXT

10. 5 Single case, diagnosed under the age of 50? Yes No (2+ cases)

11. REFERRAL UNLIKEY TO BE HELPFUL Risk Assessment: Low (Population) Advice: Discuss with your GP, likely that no further investigations needed Possible Genetic Testing: NONE Further information: Right sided bowel cancers presents symptoms such as anaemia, left sided tumours show signs of altered bowel habit or rectal bleeding NEXT

12. 6 Average age of diagnosed is less than 60? Yes No Example: ages are 54 and 62. (54+62)÷2 = 58 = less than 60

13. SEEK REFERRAL Risk Assessment: High - Moderate Advice: Seek Genetic Advice Possible Genetic Testing: Tumour Block Analysis (TBA) If tests normal, consider 5 yearly bowel screening from age 50. NEXT

14. REFERRAL UNLIKEY TO BE HELPFUL Risk Assessment: Low - Moderate Advice: Discuss with your GP, may require specialist advice if wider family history show: gastric/renal /gynaecological tumours/Right sided bowel tumours Possible Genetic Testing: Tumour Block Analysis (TBA) may be indicated If tests normal consider a 1 off colonoscopy at 55. NEXT

15. Overview of Questions and Actions