- In an individual with a cancer diagnosis who meets the following:
- personal history of Lynch syndrome-related cancer* <25 years
- multiple bowel adenomas <25 years, after exclusion of APC and MUTYH pathogenic variants
- clinical presentation meets testing threshold
- Where a known pathogenic variant is identified in a relative
- Where testing of an affected person has not been possible, testing of an unaffected first degree relative may be indicated as monoallelic pathogenic variants in the mismatch repair (MMR) genes are associated with Lynch syndrome.
Genetic testing is important for good clinical care of individuals who are suspected of having a heritable pathogenic variant in this gene.
* Includes colorectal, endometrial, ovarian, small bowel, ureter, renal pelvis, biliary tract, stomach, bladder