All of the people who fall into the categories below warrant a referral to a family cancer clinic for assessment.
| Colorectal cancer |
- UNTESTED blood relative of a person with an identified pathogenic variant in a colorectal cancer predisposition gene (e.g. MLH1, MSH2, MSH6, PMS2, APC, STK11)
- Sibling or partner of a person with 2 pathogenic variants in MUTYH
|
| Tumour pathology characteristics |
| Characteristics that warrant referral irrespective of other factors |
| 2 or more hamartomatous colorectal polyps at any age |
| 2 or more juvenile colorectal polyps at any age |
| Any number of Peutz-Jeghers polyps (any site) at any age |
| 20 or more (cumulative) adenomatous colorectal polyps at any age |
| 10 or more (cumulative) adenomatous colorectal polyps by age 30 years |
| 20 or more (cumulative) serrated colorectal polyps at any age |
| CRC or polyp where tumour testing detected microsatellite instability (MSI) or abnormal MMR immunohistochemistry (except where there is loss of expression of MLH1, and either hypermethylation of the MLH1 promoter or the BRAF V600E pathogenic variant is detected in the tumour) |
| For those with a personal history of cancer or colorectal polyps |
| Individual characteristics that warrant referral irrespective of other factors |
| Isolated colorectal cancer (CRC) diagnosed under the age of 50 yrs |
| Personal history of CRC and a second Lynch syndrome associated cancer (including 2 colorectal cancers) |
| Personal history of CRC AND a family history of 1 or more 1st or 2nd degree relatives with colorectal or endometrial cancer, with at least one of the cancers diagnosed under the age of 50 years |
| Personal history of CRC AND a family history of 2 or more 1st or 2nd degree relatives with a Lynch syndrome-associated cancer, regardless of the age the cancers were diagnosed |
| Personal history of intra-abdominal or abdominal wall desmoid tumour diagnosed under the age of 60 years |
| Personal history of numerous gastric fundic gland polyps in the absence of treatment with a proton pump inhibitor |
| For those with a family history of cancer |
| Characteristics sufficient to warrant referral irrespective of other factors |
| Family history of 2 or more 1st or 2nd degree relatives with colorectal or endometrial cancer, at least one of the cancers diagnosed under the age of 50 years |
| Family history of 3 or more 1st or 2nd degree relatives with a Lynch syndrome related cancer, regardless of the age the cancers were diagnosed |
Lynch syndrome-associated cancer includes adenocarcinoma of the colorectum, endometrium, small intestine, stomach, ovary, or pancreas, transitional cell carcinoma of the ureter or renal pelvis, cholangiocarcinoma, brain tumour, sebaceous gland tumours, keratoacanthoma.