Do you have 3 or more affected relatives? (2 or less)

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Presentation transcript:

Do you have 3 or more affected relatives? (2 or less)

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. NEXT 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 INFOMORE INFO What is this?

Do you have any family history of womb (endometrial) cancer?

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. NEXT 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 INFOMORE INFO

Did any affected patients in your family have multiple bowel polyps or tumours?

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 NEXT APC = Adenomatous polyposis 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 INFOMORE 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. What is this?

Were any relatives diagnosed with Bowel Cancer under 50 years of age?

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

(2+ cases) Single case, diagnosed under the age of 50?

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

Average age of diagnosed is less than 60? Example: ages are 54 and 62. (54+62)÷2 = 58 = less than 60

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

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

Do you have 3 or more affected relatives? “YES” High Risk Seek genetic counselling and a Tumour Block Analysis (TBA) Do you have a family history of womb cancer? “YES” High Risk Seek genetic counselling and a Tumour Block Analysis (TBA) Did any affected patients in your family have multiple bowel polyps and/or tumours? “YES” High Risk Seek genetic counselling and TBA/APC/MYH/FAR Were any relatives diagnosed with Bowel Cancer before the age of 50? “YES” Medium Risk Seek genetic counselling and a Tumour Block Analysis Single case, diagnosed after the age of 50? “YES” Low Risk Discuss with GP Average age of diagnosed is less than 60? “YES” Medium Risk Seek genetic counselling and a Tumour Block Analysis All Questions “NO” Low Risk Discuss with GP