The National Comprehensive Cancer Network (NCCN, v 1.2018) has recommended the following guidelines for when to refer a patient for further genetic risk evaluation for a hereditary polyposis syndrome:

FAMILIAL ADENOMATOUS POLYPOSIS (FAP)

  • From a family with a known APC gene mutation
  • Personal history of 20 or more adenomas
  • Consider testing if a personal history of:
    • Desmoid tumor
    • Hepatoblastoma
    • Cribriform-morular variant of papillary thyroid cancer
    • Multifocal/bilateral CHRPE
    • Between 10-20 adenomas

MUTYH-ASSOCIATED POLYPOSIS (MAP)

  • From a family with known MUTYH gene mutation(s)
  • Personal history of 20 or more adenomas
  • Consider testing if a personal history of:
    • Between 10-20 adenomas
    • At least five serrated polyps (including hyperplastic polyps, sessile serrated adenomas/polyps, and traditional serrated adenomas) with at least some adenomas present
    • Twenty or more serrated polyps of any size, but distributed throughout the colon with at least some adenomas present