The National Comprehensive Cancer Network (NCCN v 3.2019) guidelines recommend referral to a cancer genetics professional for an individual with one or more of the following:

AFFECTED WITH UTERINE CANCER

  • Uterine cancer diagnosed before the age of 50
  • Uterine cancer diagnosed at any age with tumor showing evidence of mismatch repair (MMR) deficiency, either by microsatellite instability (MSI) or loss of MMR protein expression
  • A history of uterine cancer and another synchronous or metachronous Lynch syndrome-related cancer* 
  • Uterine cancer diagnosed at any age with one or more first- or second-degree relative diagnosed with Lynch syndrome-related cancer* before the age of 50
  • Uterine cancer diagnosed at any age with two or more first- or second-degree relatives diagnosed with Lynch syndrome-related cancers* regardless of age

FAMILY HISTORY OF UTERINE CANCER

  • One or more first-degree relative with colorectal or endometrial cancer diagnosed before age 50
  • One or more first degree relative with colorectal or endometrial cancer and another synchronous or metachronous Lynch syndrome-related cancer
  • Two or more first- or second-degree relatives with Lynch syndrome-related cancer, including one or more diagnosed before age 50
  • Three or more first- or second-degree relatives with Lynch syndrome-related cancers, regardless of age
  • Family history of any blood relative with a known pathogenic/likely pathogenic variant in a cancer susceptibility gene
  • Increased model-predicted risk for Lynch syndrome
    • An individual with a 5% or greater risk of having an MMR gene pathogenic variant based on predictive models (ie, PREMM5, MMRpro, MMRpredict)

*Lynch syndrome-related cancers include colorectal, gastric, ovarian, pancreas, ureter and renal pelvis, brain (usually glioblastoma), biliary tract, small intestinal cancers, as well as sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas as seen in Muir-Torre syndrome

CONDITIONS TO CONSIDER