- Loss of proteins on mismatch repair immunohistochemistry (MMR IHC). If loss of MLH1 and PMS2, please first carry out MLH1 promoter hypermethylation studies and refer if not hypermethylated.
- Patient diagnosed with bowel cancer younger than 50 years.
- Patient diagnosed with two Lynch syndrome related cancers* where one is either colorectal or endometrial cancer.
- Patient diagnosed with bowel cancer and family reaches Amsterdam Criteria**
- Patient diagnosed with a non-colorectal Lynch syndrome-related cancer* younger than 50 years e.g. endometrial or ovarian cancer (MMR IHC testing to first be performed locally, if possible)
- Patient is unaffected with cancer but all affected family members are deceased, AND they have a first degree relative with bowel cancer younger than 30 years, OR they have two first degree relatives diagnosed with a Lynch syndrome-related cancer* younger than 60 years, OR family reaches Amsterdam Criteria**
* Lynch-related cancers comprise: colorectal, endometrial, endocervical, ovarian, pancreatic, ureteric, transitional cell cancer of renal pelvis, gastric, hepatobiliary tract, small bowel, glioblastoma, pancreatic, prostate, multiple sebaceous adenomata, multiple sebaceous epitheliomas, multiple keratoacanthomas, and sebaceous carcinoma.
** Amsterdam Criteria: >3 closely related family members diagnosed with Lynch-related cancers over >2 generations with >1 case diagnosed <50 years.