A problem facing primary care providers is how to evaluate a patient giving a family history of colorectal carcinoma. In the West Midlands of England an algorithm has been developed to help determine the most effective testing strategy.
Data collection sheet: available at www.bham.ac.uk/ich/clingen.htm [October, 2000].
Basic strategy: separate patients into risk groups:
(1) low risk: reassurance and routine surveillance by general practitioner
(2) moderate risk: referral to specialty center with close surveillance
(3) high risk: referral to clinical geneticist with molecular testing; referral to specialty center with close surveillance
Parameters:
(1) number of close family members affected with colorectal cancer and colorectal cancer equivalents
(2) ages of onset
(3) presence or absence of Amsterdam criteria for HNPCC (see above)
(4) presence or absence of familial adenomatous polyposis
Family History |
Additional Information |
Management |
Level |
familial adenomatous polyposis |
|
annual sigmoidoscopy from 12-40 years; refer to clinical geneticist |
9 |
3 close relatives |
meet Amsterdam criteria |
colonoscopy every 2 years from 25-65; refer to clinical geneticist |
8 |
3 close relatives |
do not meet Amsterdam criteria |
colonoscopy every 3-5 years starting from 30 to 40 and stopping at 65; refer to clinical geneticist |
7 |
2 first degree relatives |
average age < 50 |
colonoscopy every 3-5 years from 30-65 years; refer to clinical geneticist |
6 |
2 first degree relatives |
average age 50 – 60 |
colonoscopy every 5 years, 35 to 65; appointment at local screening unit |
5 |
2 first degree relatives |
average age 60 – 70 |
single colonoscopy, about 55 years of age; appointment at local screening unit |
4 |
2 first degree relatives |
average age > 70 |
reassure and routine population surveillance |
2 |
1 first degree relative |
age <= 40 |
colonoscopy every 5 years, 25 to 65; appointment at local screening unit |
3 |
1 first degree relative |
age > 40 years |
reasssure and routine population surveillance |
1 |
no first degree relatives |
|
reasssure and routine population surveillance |
1 |
where:
• Level indicates risk level in the implemented spreadsheet.
Modified Amsterdam criteria for HNPCC (International Collaborative Group)
(1) 3 or more relatives with documented colorectal cancer
(2) a relative with endometrial or small bowel adenocarcinoma may be substituted for colorectal cancer
(3) one of the patients is a first degree relative of the other two
(4) cases occur over 2 or more generations
(5) at least one of the cases occurred in a patient < 50 years of age
(6) familial adenomatous polyposis excluded
Specialty: Hematology Oncology, Surgery, general, Gastroenterology
ICD-10: ,