ICARE Newsletter Summer 2016

Practice Guideline Updates for NCCN Genetic/Familial High-Risk Assessment

The National Comprehensive Cancer Network (NCCN) is a network of oncology healthcare providers who work together to develop best practice guidelines for the delivery of cancer care. Given the increasing use of testing for mutations in several inherited cancer genes at one time (called “multi-gene panel testing”), the Breast/Ovarian and Colorectal Panels sought to provide medical management guidance when using this testing approach. To access current NCCN guidelines, visit: https://www.nccn.org/professionals/physician_gls/f_guidelines.asp.

Colorectal (v1.2016)

The current version was significantly changed to include risk level and recommended management for several newer genes associated with colorectal cancer risk as outlined below:

  • High-Risk Colorectal Cancer Genes (GREM1, POLD1, POLE): Begin colonoscopy between age 25-30 and repeat every 2-3 years if normal. If polyps are found, repeat colonoscopy every 1-2 years. Surgical consideration if polyp number becomes unmanageable.
  • Low/Moderate-Risk Colorectal Cancer Genes (APC (I1307K variant), BLM (single carrier), CHEK2, GALNT12, MUTYH (single carrier)): For carriers without a personal history of colon cancer who have a first-degree relative (parent, sibling, child) with colorectal cancer: colonoscopy every 5 years beginning at age 40 or 10 years prior to the earliest diagnosis of colon cancer in the first-degree relative. For patients without a personal history of colon cancer who do not have a first-degree relative with colorectal cancer: colonoscopy every 5 years beginning at age 40.
  • Lynch Syndrome (LS) (MLH1, MSH2, MSH6, PMS2, EPCAM): Begin colorectal screening at the same age and interval regardless of which of the five LS genes has a mutation. This is an important update for individuals with LS to share with at-risk family members as this may help to inform the age at which relatives may consider predictive testing for a known familial mutation. The updated NCCN colorectal cancer screening guidelines for LS are as follows:

LS Genes

Colorectal Cancer Risk
by Age 70

Updated Colorectal Cancer Screening

  • MLH1/MSH2: 52-82% 
  • MSH6: 10-22%
  • PMS2: 15-20%
  • Begin colonoscopy at 20-25 years old or 2-5 years prior to the earliest colon cancer in the family if diagnosed < age 25
  • Repeat every 1-2 years

Permanent link to this article: https://inheritedcancer.net/2nls2016/