- Esophageal cancer added to name of this guideline, with a section added on hereditary esophageal cancer (HESOPH-1 & 2)
- One of the biggest changes was recommendation for genetic testing for all colorectal, endometrial, and gastric cancers
- Tumor screening for MMR deficiency recommended for the following cancers: sebaceous neoplasms, small bowel, biliary tract, brain, bladder/urothelial, and adrenocortical cancers
The panel set a specific minimal set of genes to test for colorectal, endometrial, and gastric cancer:
COLORECTAL CANCER GENES
(including genes that predispose to polyps)
- Recommend: APC (Familial Adenomatous Polyposis), Juvenile Polyposis genes (BMPR1A & SMAD4), Lynch Syndrome genes(MLH1, MSH2, EPCAM, MSH6, PMS2), biallelic MUTYH, PTEN (Cowden), STK11 (Peutz-Jeghers), and TP53 (Li-Fraumeni).
- Consider: AXIN2, GREM1, POLE, POLD1, and biallelic mutations in MSH3, MLH3, MBD4, and NTHL1.
Additional genes that sometimes get included: ATM, BLM, CHEK2, GALNT12, RNF43, and RPS20.
ENDOMETRIAL (UTERINE) CANCER GENES
- Recommend: BRCA1/2, PTEN, and Lynch Syndrome genes (MLH1, MSH2, EPCAM, MSH6, PMS2).
- Consider: POLD1 and POLE.
GASTRIC CANCER GENES
- Recommend: APC (including APC promoter 1B), ATM, Juvenile Polyposis genes (BMPR1A & SMAD4), BRCA1/2, PALB2, Hereditary Gastric Cancer genes (CDH1 &CTNNA1), Lynch Syndrome genes (MLH1, MSH2, EPCAM, MSH6), STK11 (Peutz-Jeghers), and TP53 (Li-Fraumeni).
Test selection and decision to retest including additional genes beyond these minimal sets should be based on considerations such as: age at presentation, type of polyps, personal and family history of cancer, and patient and provider preference
Released June 16th, 2026: https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceeg.pdf