Description

This logic path provides recommendations for colorectal cancer surveillance in individuals with hereditary syndromes which carry an increased risk of colorectal cancer.

Mid-Level Flow Diagram

Personal history ofLynch syndrome, FAP,AFAP, MAP, PJS, JPS,SPS or Cowdensyndrome?Genetic marker forLynch syndrome, FAP,AFAP, MAP, PJS, JPS,SPS or CowdenSyndrome?Family history ofgenetic marker forLynch syndrome, FAP,AFAP, MAP, PJS, JPS,or CowdenSyndrome?Family history of SPSor familial coloncancer type X?Recommendation: Refer to GIspecialist for colonoscopysurveillance recommendationsRecommendation: Colonoscopysurveillance recommendations forpatients with confirmed syndromeapplyendyesnoyesnoyesnoyesno

Semi-Structured Logic Statements

Inclusions

NameDescription
Patients who have or are at risk for a hereditary syndrome associated with an increased risk of colorectal cancer
Patient has a clinical or genetic diagnosis of a colorectal cancer-associated hereditary syndrome, or is considered at risk for such a syndrome (e.g. suggestive family history, family history of confirmed mutation on a hereditary syndrome-associated gene).

Exclusions

None.

Events

NameDescription
Personal history of Lynch syndrome, FAP, AFAP, MAP, PJS, JPS, SPS or Cowden syndrome?
Patient has a diagnosis of a hereditary syndrome associated with increased risk for colorectal cancer.
Genetic marker for Lynch syndrome, FAP, AFAP, MAP, PJS, JPS, SPS or Cowden Syndrome?
Patient has a confirmed pathologic or likely pathologic genetic variant fpr a colorectal cancer-associated hereditary syndrome.
Family history of genetic marker for Lynch syndrome, FAP, AFAP, MAP, PJS, JPS, or Cowden Syndrome?
Patient has a family member with a confirmed pathologic or likely pathologic genetic variant for a colorectal cancer-associated hereditary syndrome.
Family history of SPS or familial colon cancer type X?
Patient has a family history of a syndrome not strongly associated with mutations in specific genes.
FAMILY HISTORY of `Serrated polyposis syndrome` in `First-degree relative` EXISTS
OR
FAMILY HISTORY of `Familial Colorectal Cancer Type X` EXISTS

Actions

Recommendation: Refer to GI specialist for colonoscopy surveillance recommendations
Description
RECOMMENDATION:
Refer to GI specialist for colorectal cancer (and possibly additional cancers) surveillance recommendations.

Patients with a hereditary cancer syndrome require specialized management and colonoscopy surveillance for colorectal cancer (as well as additional surveillance for other cancers). Recommendations on when to start surveillance and surveillance intervals vary according to the syndrome.
Pseudocode
Recommendation: Colonoscopy surveillance recommendations for patients with confirmed syndrome apply
Description
RECOMMENDATION:
Refer to GI specialist for colorectal cancer (and possibly additional cancers) surveillance recommendations.

Surveillance for patients at risk for colorectal cancer hereditary syndromes is generally the same as for patients diagnosed with the syndrome. Recommendations on when to start surveillance and surveillance intervals vary according to the syndrome.
Pseudocode

References

  • USMSTF (2014): Giardiello, F. M., et al. (2014). Guidelines on genetic evaluation and management of Lynch syndrome: A consensus statement by the US multi-society task force on colorectal cancer. American Journal of Gastroenterology, 109(8), 1159–1179. https://doi.org/10.1038/ajg.2014.186
  • ACG (2015): Syngal, S., et al. (2015). ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes. American Journal of Gastroenterology 110(2):p 223-262. https://doi.org/10.1038/ajg.2014.435
  • USMSTF (2017): Rex, D. K., et al. (2017). Colorectal Cancer Screening: Recommendations for Physicians and Patients From the U.S. Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 153(1), 307–323. https://doi.org/10.1053/j.gastro.2017.05.013
  • USMSTF (2022): Boland, C. R., et al. (2022). Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer. Gastroenterology, 162(7), 2063–2085. https://doi.org/10.1053/j.gastro.2022.02.021
  • NCCN (2.2024): NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Genetic/Familial High-Risk Assessment: Colorectal, Endometrial, and Gastric V.2.2024. https://www.nccn.org/professionals/physician_gls/pdf/genetics_ceg.pdf

Approved for Public Release, Distribution Unlimited.
Public Release Case Number 24-2711
Copyright ©2024 The MITRE Corporation. All rights reserved.