Table 1.
Indication for surveillance | Category | Modality | Age to commence (years) | Interval |
Family history of CRC | Average risk | National screening | National screening age | As defined by national screening |
Moderate risk | Colonoscopy | 55 | Post-polypectomy guidelines | |
High risk* | Colonoscopy | 40 | 5 yearly until age 75 years | |
Lynch syndrome | MMR gene pathogenic variant carriers | |||
MLH1 and MSH2 gene carriers | Colonoscopy | 25 | 2 yearly until age 75 years | |
MSH6 and PMS2 gene carriers | Colonoscopy | 35 | 2 yearly until age 75 years | |
Stomach, small bowel and pancreas | Not indicated outside a clinical trial | |||
Lynch-like syndrome | Individuals with deficient MMR tumours without hypermethylation/BRAF pathogenic variant and no pathogenic constitutional pathogenic variant in MMR genes, and no evidence of biallelic somatic MMR gene inactivation (and their unaffected FDRs). | Colonoscopy | 25 | 2 yearly until age 75 years |
Serrated polyposis syndrome | Affected individuals (WHO 2019) | Colonoscopy | From age of diagnosis | 1–2 yearly until age 75 years |
FDRs of affected individuals | Colonoscopy | 40 (or 10 years earlier than the index case) | 5 yearly until age 75 years | |
Multiple colorectal adenomas (MCRAs) | 10 or more adenomas without constitutive pathogenic variants in APC or MUTYH | Colonoscopy | From age of diagnosis | 1–2 yearly until age 75 years |
Familial adenomatous polyposis (FAP) | APC pathogenic variant carriers | Colonoscopy | 12 to 14 | 1–3 yearly depending on phenotype |
Gastroscopy and duodenoscopy | 25 | As per Spigelman classification | ||
Sigmoidoscopy/ pouchoscopy | From time of colectomy | 1–3 yearly depending on phenotype | ||
Individuals with an FDR with a clinical diagnosis of FAP (ie, “at-risk”) and in whom a constitutional pathogenic variant has not been identified | Colonoscopy | 12 to 14 | 5 yearly until national screening age | |
Gastroscopy and duodenoscopy | Commence only if clinical diagnosis made of colorectal polyposis phenotype | As per Spigelman classification | ||
MUTYH-associated polyposis (MAP) | MUTYH gene pathogenic variant carriers | Colonoscopy | 18 to 20 years | Annual |
Gastroscopy and duodenoscopy | 35 | As per Spigelman classification | ||
Peutz-Jeghers syndrome (PJS) | STK11 gene pathogenic variant carriers | Upper gastrointestinal endoscopy, colonoscopy and video capsule endoscopy | 8 | see main text |
Juvenile polyposis syndrome (JPS) | SMAD4 and BMPR1A pathogenic variant carriers | Colonoscopy | 15 | 1–3 yearly depending on phenotype |
SMAD4 pathogenic variant carriers | Gastroscopy and duodenoscopy | 18 | 1–3 yearly depending on phenotype | |
BMPR1A pathogenic variant carriers | Gastroscopy and duodenoscopy | 25 | 1–3 yearly depending on phenotype |
*Amsterdam criteria families where MMR testing is not possible may be offered surveillance as per Lynch syndrome families and/or additional constitutional testing.
CRC, colorectal cancer; FDR, first degree relative; MMR, mismatch repair.